International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Heather J. Cordell, Younghun Han, George F. Mells, Yafang Li, Gideon M. Hirschfield, Casey S. Greene, Gang Xie, Brian D. Juran, Dakai Zhu, David C. Qian, James A B Floyd, Katherine I. Morley, Daniele Prati, Ana Lleo, Daniele Cusi, M. Eric Gershwin, Carl A. Anderson, Konstantinos N. Lazaridis, Pietro Invernizzi, Michael F Seldin & 441 others Richard N. Sandford, Christopher I. Amos, Katherine A. Siminovitch, Erik M. Schlicht, Craig Lammert, Elizabeth J. Atkinson, Landon L. Chan, Mariza De Andrade, Tobias Balschun, Andrew L. Mason, Robert P. Myers, Jinyi Zhang, Piotr Milkiewicz, Jia Qu, Joseph A. Odin, Velimir A. Luketic, Bruce R. Bacon, Henry C. Bodenheimer, Valentina Liakina, Catherine Vincent, Cynthia Levy, Peter K. Gregersen, Piero L. Almasio, Domenico Alvaro, Pietro Andreone, Angelo Andriulli, Cristina Barlassina, Pier Maria Battezzati, Antonio Benedetti, Francesca Bernuzzi, Ilaria Bianchi, Maria Consiglia Bragazzi, Maurizia Brunetto, Savino Bruno, Giovanni Casella, Barbara Coco, Agostino Colli, Massimo Colombo, Silvia Colombo, Carmela Cursaro, Lory Saveria Crocè, Andrea Crosignani, Maria Francesca Donato, Gianfranco Elia, Luca Fabris, Carlo Ferrari, Annarosa Floreani, Barbara Foglieni, Rosanna Fontana, Andrea Galli, Roberta Lazzari, Fabio Macaluso, Federica Malinverno, Fabio Marra, Marco Marzioni, Alberto Mattalia, Renzo Montanari, Lorenzo Morini, Filomena Morisco, S. Mousa Hani, Luigi Muratori, Paolo Muratori, Grazia A. Niro, Vincenzo O. Palmieri, Antonio Picciotto, Mauro Podda, Piero Portincasa, Vincenzo Ronca, Floriano Rosina, Sonia Rossi, Ilaria Sogno, Giancarlo Spinzi, Marta Spreafico, Mario Strazzabosco, Sonia Tarallo, Mirko Tarocchi, Claudio Tiribelli, Pierluigi Toniutto, Maria Vinci, Massimo Zuin, Chin Lye Ch'Ng, Mesbah Rahman, Tom Yapp, Richard Sturgess, Christopher Healey, Marek Czajkowski, Anton Gunasekera, Pranab Gyawali, Purushothaman Premchand, Kapil Kapur, Richard Marley, Graham Foster, Alan Watson, Aruna Dias, Javaid Subhani, Rory Harvey, Roger McCorry, David Ramanaden, Jaber Gasem, Richard Evans, Thiriloganathan Mathialahan, Christopher Shorrock, George Lipscomb, Paul Southern, Jeremy Tibble, David Gorard, Altaf Palegwala, Susan Jones, Marco Carbone, Mohamed Dawwas, Graeme Alexander, Sunil Dolwani, Martin Prince, Matthew Foxton, David Elphick, Harriet Mitchison, Ian Gooding, Mazn Karmo, Sushma Saksena, Mike Mendall, Minesh Patel, Roland Ede, Andrew Austin, Joanna Sayer, Lorraine Hankey, Christopher Hovell, Neil Fisher, Martyn Carter, Konrad Koss, Andrzej Piotrowicz, Charles Grimley, David Neal, Guan Lim, Sass Levi, Aftab Ala, Andrea Broad, Athar Saeed, Gordon Wood, Jonathan Brown, Mark Wilkinson, Harriet Gordon, John Ramage, Jo Ridpath, Theodore Ngatchu, Bob Grover, Syed Shaukat, Ray Shidrawi, George Abouda, Faiz Ali, Ian Rees, Imroz Salam, Mark Narain, Ashley Brown, Simon Taylor-Robinson, Simon Williams, Leonie Grellier, Paul Banim, Debasish Das, Andrew Chilton, Michael Heneghan, Howard Curtis, Markus Gess, Ian Drake, Mark Aldersley, Mervyn Davies, Rebecca Jones, Alastair McNair, Raj Srirajaskanthan, Maxton Pitcher, Sambit Sen, George Bird, Adrian Barnardo, Paul Kitchen, Kevin Yoong, Oza Chirag, Nurani Sivaramakrishnan, George MacFaul, David Jones, Amir Shah, Chris Evans, Subrata Saha, Katharine Pollock, Peter Bramley, Ashis Mukhopadhya, Andrew Fraser, Peter Mills, Christopher Shallcross, Stewart Campbell, Andrew Bathgate, Alan Shepherd, John Dillon, Simon Rushbrook, Robert Przemioslo, Christopher Macdonald, Jane Metcalf, Udi Shmueli, Andrew Davis, Asifabbas Naqvi, Tom Lee, Dyder Stephen, Jane Collier, Howard Klass, Mary Ninkovic, Matthew Cramp, Nicholas Sharer, Richard Aspinall, Patrick Goggin, Deb Ghosh, Andrew Douds, Barbara Hoeroldt, Jonathan Booth, Earl Williams, Hyder Hussaini, William Stableforth, Reuben Ayres, Douglas Thorburn, Eileen Marshall, Andrew Burroughs, Steven Mann, Martin Lombard, Paul Richardson, Imran Patanwala, Julia Maltby, Matthew Brookes, Ray Mathew, Samir Vyas, Saket Singhal, Dermot Gleeson, Sharat Misra, Jeff Butterworth, Keith George, Tim Harding, Andrew Douglass, Simon Panter, Jeremy Shearman, Gary Bray, Graham Butcher, Daniel Forton, John McLindon, Matthew Cowan, Gregory Whatley, Aditya Mandal, Hemant Gupta, Pradeep Sanghi, Sanjiv Jain, Steve Pereira, Geeta Prasad, Gill Watts, Mark Wright, James Neuberger, Fiona Gordon, Esther Unitt, Allister Grant, Toby Delahooke, Andrew Higham, Alison Brind, Mark Cox, Subramaniam Ramakrishnan, Alistair King, Carole Collins, Simon Whalley, Andy Li, Jocelyn Fraser, Andrew Bell, Voi Shim Wong, Amit Singhal, Ian Gee, Yeng Ang, Rupert Ransford, James Gotto, Charles Millson, Jane Bowles, Caradog Thomas, Melanie Harrison, Roman Galaska, Jennie Kendall, Jessica Whiteman, Caroline Lawlor, Catherine Gray, Keith Elliott, Caroline Mulvaney-Jones, Lucie Hobson, Greta Van Duyvenvoorde, Alison Loftus, Katie Seward, Ruth Penn, Jane Maiden, Rose Damant, Janeane Hails, Rebecca Cloudsdale, Valeria Silvestre, Sue Glenn, Eleanor Dungca, Natalie Wheatley, Helen Doyle, Melanie Kent, Caroline Hamilton, Delyth Braim, Helen Wooldridge, Rachel Abrahams, Alison Paton, Nicola Lancaster, Andrew Gibbins, Karen Hogben, Phillipa Desousa, Florin Muscariu, Janine Musselwhite, Alexandra McKay, Laiting Tan, Carole Foale, Jacqueline Brighton, Kerry Flahive, Estelle Nambela, Paula Townshend, Chris Ford, Sophie Holder, Caroline Palmer, James Featherstone, Mariam Nasseri, Joy Sadeghian, Bronwen Williams, Carol Thomas, Sally Ann Rolls, Abigail Hynes, Claire Duggan, Sarah Jones, Mary Crossey, Glynis Stansfield, Carolyn MacNicol, Joy Wilkins, Elva Wilhelmsen, Parizade Raymode, Hye Jeong Lee, Emma Durant, Rebecca Bishop, Noma Ncube, Sherill Tripoli, Rebecca Casey, Caroline Cowley, Richard Miller, Kathryn Houghton, Samantha Ducker, Fiona Wright, Bridget Bird, Gwen Baxter, Janie Keggans, Maggie Hughes, Emma Grieve, Karin Young, D. Williams, Kate Ocker, Frances Hines, Kirsty Martin, Caron Innes, Talal Valliani, Helen Fairlamb, Sarah Thornthwaite, Anne Eastick, Elizabeth Tanqueray, Jennifer Morrison, Becky Holbrook, Julie Browning, Kirsten Walker, Susan Congreave, Juliette Verheyden, Susan Slininger, Lizzie Stafford, Denise O'Donnell, Mark Ainsworth, Susan Lord, Linda Kent, Linda March, Christine Dickson, Diane Simpson, Beverley Longhurst, Maria Hayes, Ervin Shpuza, Nikki White, Sarah Besley, Sallyanne Pearson, Alice Wright, Linda Jones, Emma Gunter, Hannah Dewhurst, Anna Fouracres, Liz Farrington, Lyn Graves, Suzie Marriott, Marina Leoni, David Tyrer, Kate Martin, Lola Dali-Kemmery, Victoria Lambourne, Marie Green, Dawn Sirdefield, Kelly Amor, Julie Colley, Bal Shinder, Jayne Jones, Marisa Mills, Mandy Carnahan, Natalie Taylor, Kerenza Boulton, Julie Tregonning, Carly Brown, Gayle Clifford, Emily Archer, Maria Hamilton, Janette Curtis, Tracey Shewan, Sue Walsh, Karen Warner, Kimberley Netherton, McDonald Mupudzi, Bridget Gunson, Jane Gitahi, Denise Gocher, Sally Batham, Hilary Pateman, Senayon Desmennu, Jill Conder, Darren Clement, Susan Gallagher, Jacky Orpe, Puiching Chan, Lynn Currie, Lynn O'Donohoe, Metod Oblak, Lisa Morgan, Marie Quinn, Isobel Amey, Yolanda Baird, Donna Cotterill, Lourdes Cumlat, Louise Winter, Sandra Greer, Katie Spurdle, Joanna Allison, Simon Dyer, Helen Sweeting, Jean Kordula

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined -8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.

Original languageEnglish (US)
Article number8019
JournalNature Communications
Volume6
DOIs
StatePublished - Sep 22 2015

Fingerprint

Biliary Liver Cirrhosis
genome
loci
Meta-Analysis
therapy
Genes
Interleukin-27
Genome
Cytokines
Immunomodulation
Genome-Wide Association Study
Interleukin-12
liver
Liver
Autoimmune Diseases
Liver Diseases
Therapeutics
Datasets

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Chemistry(all)
  • Physics and Astronomy(all)

Cite this

Cordell, H. J., Han, Y., Mells, G. F., Li, Y., Hirschfield, G. M., Greene, C. S., ... Kordula, J. (2015). International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. Nature Communications, 6, [8019]. https://doi.org/10.1038/ncomms9019

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. / Cordell, Heather J.; Han, Younghun; Mells, George F.; Li, Yafang; Hirschfield, Gideon M.; Greene, Casey S.; Xie, Gang; Juran, Brian D.; Zhu, Dakai; Qian, David C.; Floyd, James A B; Morley, Katherine I.; Prati, Daniele; Lleo, Ana; Cusi, Daniele; Gershwin, M. Eric; Anderson, Carl A.; Lazaridis, Konstantinos N.; Invernizzi, Pietro; Seldin, Michael F; Sandford, Richard N.; Amos, Christopher I.; Siminovitch, Katherine A.; Schlicht, Erik M.; Lammert, Craig; Atkinson, Elizabeth J.; Chan, Landon L.; De Andrade, Mariza; Balschun, Tobias; Mason, Andrew L.; Myers, Robert P.; Zhang, Jinyi; Milkiewicz, Piotr; Qu, Jia; Odin, Joseph A.; Luketic, Velimir A.; Bacon, Bruce R.; Bodenheimer, Henry C.; Liakina, Valentina; Vincent, Catherine; Levy, Cynthia; Gregersen, Peter K.; Almasio, Piero L.; Alvaro, Domenico; Andreone, Pietro; Andriulli, Angelo; Barlassina, Cristina; Battezzati, Pier Maria; Benedetti, Antonio; Bernuzzi, Francesca; Bianchi, Ilaria; Bragazzi, Maria Consiglia; Brunetto, Maurizia; Bruno, Savino; Casella, Giovanni; Coco, Barbara; Colli, Agostino; Colombo, Massimo; Colombo, Silvia; Cursaro, Carmela; Crocè, Lory Saveria; Crosignani, Andrea; Donato, Maria Francesca; Elia, Gianfranco; Fabris, Luca; Ferrari, Carlo; Floreani, Annarosa; Foglieni, Barbara; Fontana, Rosanna; Galli, Andrea; Lazzari, Roberta; Macaluso, Fabio; Malinverno, Federica; Marra, Fabio; Marzioni, Marco; Mattalia, Alberto; Montanari, Renzo; Morini, Lorenzo; Morisco, Filomena; Mousa Hani, S.; Muratori, Luigi; Muratori, Paolo; Niro, Grazia A.; Palmieri, Vincenzo O.; Picciotto, Antonio; Podda, Mauro; Portincasa, Piero; Ronca, Vincenzo; Rosina, Floriano; Rossi, Sonia; Sogno, Ilaria; Spinzi, Giancarlo; Spreafico, Marta; Strazzabosco, Mario; Tarallo, Sonia; Tarocchi, Mirko; Tiribelli, Claudio; Toniutto, Pierluigi; Vinci, Maria; Zuin, Massimo; Ch'Ng, Chin Lye; Rahman, Mesbah; Yapp, Tom; Sturgess, Richard; Healey, Christopher; Czajkowski, Marek; Gunasekera, Anton; Gyawali, Pranab; Premchand, Purushothaman; Kapur, Kapil; Marley, Richard; Foster, Graham; Watson, Alan; Dias, Aruna; Subhani, Javaid; Harvey, Rory; McCorry, Roger; Ramanaden, David; Gasem, Jaber; Evans, Richard; Mathialahan, Thiriloganathan; Shorrock, Christopher; Lipscomb, George; Southern, Paul; Tibble, Jeremy; Gorard, David; Palegwala, Altaf; Jones, Susan; Carbone, Marco; Dawwas, Mohamed; Alexander, Graeme; Dolwani, Sunil; Prince, Martin; Foxton, Matthew; Elphick, David; Mitchison, Harriet; Gooding, Ian; Karmo, Mazn; Saksena, Sushma; Mendall, Mike; Patel, Minesh; Ede, Roland; Austin, Andrew; Sayer, Joanna; Hankey, Lorraine; Hovell, Christopher; Fisher, Neil; Carter, Martyn; Koss, Konrad; Piotrowicz, Andrzej; Grimley, Charles; Neal, David; Lim, Guan; Levi, Sass; Ala, Aftab; Broad, Andrea; Saeed, Athar; Wood, Gordon; Brown, Jonathan; Wilkinson, Mark; Gordon, Harriet; Ramage, John; Ridpath, Jo; Ngatchu, Theodore; Grover, Bob; Shaukat, Syed; Shidrawi, Ray; Abouda, George; Ali, Faiz; Rees, Ian; Salam, Imroz; Narain, Mark; Brown, Ashley; Taylor-Robinson, Simon; Williams, Simon; Grellier, Leonie; Banim, Paul; Das, Debasish; Chilton, Andrew; Heneghan, Michael; Curtis, Howard; Gess, Markus; Drake, Ian; Aldersley, Mark; Davies, Mervyn; Jones, Rebecca; McNair, Alastair; Srirajaskanthan, Raj; Pitcher, Maxton; Sen, Sambit; Bird, George; Barnardo, Adrian; Kitchen, Paul; Yoong, Kevin; Chirag, Oza; Sivaramakrishnan, Nurani; MacFaul, George; Jones, David; Shah, Amir; Evans, Chris; Saha, Subrata; Pollock, Katharine; Bramley, Peter; Mukhopadhya, Ashis; Fraser, Andrew; Mills, Peter; Shallcross, Christopher; Campbell, Stewart; Bathgate, Andrew; Shepherd, Alan; Dillon, John; Rushbrook, Simon; Przemioslo, Robert; Macdonald, Christopher; Metcalf, Jane; Shmueli, Udi; Davis, Andrew; Naqvi, Asifabbas; Lee, Tom; Stephen, Dyder; Collier, Jane; Klass, Howard; Ninkovic, Mary; Cramp, Matthew; Sharer, Nicholas; Aspinall, Richard; Goggin, Patrick; Ghosh, Deb; Douds, Andrew; Hoeroldt, Barbara; Booth, Jonathan; Williams, Earl; Hussaini, Hyder; Stableforth, William; Ayres, Reuben; Thorburn, Douglas; Marshall, Eileen; Burroughs, Andrew; Mann, Steven; Lombard, Martin; Richardson, Paul; Patanwala, Imran; Maltby, Julia; Brookes, Matthew; Mathew, Ray; Vyas, Samir; Singhal, Saket; Gleeson, Dermot; Misra, Sharat; Butterworth, Jeff; George, Keith; Harding, Tim; Douglass, Andrew; Panter, Simon; Shearman, Jeremy; Bray, Gary; Butcher, Graham; Forton, Daniel; McLindon, John; Cowan, Matthew; Whatley, Gregory; Mandal, Aditya; Gupta, Hemant; Sanghi, Pradeep; Jain, Sanjiv; Pereira, Steve; Prasad, Geeta; Watts, Gill; Wright, Mark; Neuberger, James; Gordon, Fiona; Unitt, Esther; Grant, Allister; Delahooke, Toby; Higham, Andrew; Brind, Alison; Cox, Mark; Ramakrishnan, Subramaniam; King, Alistair; Collins, Carole; Whalley, Simon; Li, Andy; Fraser, Jocelyn; Bell, Andrew; Wong, Voi Shim; Singhal, Amit; Gee, Ian; Ang, Yeng; Ransford, Rupert; Gotto, James; Millson, Charles; Bowles, Jane; Thomas, Caradog; Harrison, Melanie; Galaska, Roman; Kendall, Jennie; Whiteman, Jessica; Lawlor, Caroline; Gray, Catherine; Elliott, Keith; Mulvaney-Jones, Caroline; Hobson, Lucie; Van Duyvenvoorde, Greta; Loftus, Alison; Seward, Katie; Penn, Ruth; Maiden, Jane; Damant, Rose; Hails, Janeane; Cloudsdale, Rebecca; Silvestre, Valeria; Glenn, Sue; Dungca, Eleanor; Wheatley, Natalie; Doyle, Helen; Kent, Melanie; Hamilton, Caroline; Braim, Delyth; Wooldridge, Helen; Abrahams, Rachel; Paton, Alison; Lancaster, Nicola; Gibbins, Andrew; Hogben, Karen; Desousa, Phillipa; Muscariu, Florin; Musselwhite, Janine; McKay, Alexandra; Tan, Laiting; Foale, Carole; Brighton, Jacqueline; Flahive, Kerry; Nambela, Estelle; Townshend, Paula; Ford, Chris; Holder, Sophie; Palmer, Caroline; Featherstone, James; Nasseri, Mariam; Sadeghian, Joy; Williams, Bronwen; Thomas, Carol; Rolls, Sally Ann; Hynes, Abigail; Duggan, Claire; Jones, Sarah; Crossey, Mary; Stansfield, Glynis; MacNicol, Carolyn; Wilkins, Joy; Wilhelmsen, Elva; Raymode, Parizade; Lee, Hye Jeong; Durant, Emma; Bishop, Rebecca; Ncube, Noma; Tripoli, Sherill; Casey, Rebecca; Cowley, Caroline; Miller, Richard; Houghton, Kathryn; Ducker, Samantha; Wright, Fiona; Bird, Bridget; Baxter, Gwen; Keggans, Janie; Hughes, Maggie; Grieve, Emma; Young, Karin; Williams, D.; Ocker, Kate; Hines, Frances; Martin, Kirsty; Innes, Caron; Valliani, Talal; Fairlamb, Helen; Thornthwaite, Sarah; Eastick, Anne; Tanqueray, Elizabeth; Morrison, Jennifer; Holbrook, Becky; Browning, Julie; Walker, Kirsten; Congreave, Susan; Verheyden, Juliette; Slininger, Susan; Stafford, Lizzie; O'Donnell, Denise; Ainsworth, Mark; Lord, Susan; Kent, Linda; March, Linda; Dickson, Christine; Simpson, Diane; Longhurst, Beverley; Hayes, Maria; Shpuza, Ervin; White, Nikki; Besley, Sarah; Pearson, Sallyanne; Wright, Alice; Jones, Linda; Gunter, Emma; Dewhurst, Hannah; Fouracres, Anna; Farrington, Liz; Graves, Lyn; Marriott, Suzie; Leoni, Marina; Tyrer, David; Martin, Kate; Dali-Kemmery, Lola; Lambourne, Victoria; Green, Marie; Sirdefield, Dawn; Amor, Kelly; Colley, Julie; Shinder, Bal; Jones, Jayne; Mills, Marisa; Carnahan, Mandy; Taylor, Natalie; Boulton, Kerenza; Tregonning, Julie; Brown, Carly; Clifford, Gayle; Archer, Emily; Hamilton, Maria; Curtis, Janette; Shewan, Tracey; Walsh, Sue; Warner, Karen; Netherton, Kimberley; Mupudzi, McDonald; Gunson, Bridget; Gitahi, Jane; Gocher, Denise; Batham, Sally; Pateman, Hilary; Desmennu, Senayon; Conder, Jill; Clement, Darren; Gallagher, Susan; Orpe, Jacky; Chan, Puiching; Currie, Lynn; O'Donohoe, Lynn; Oblak, Metod; Morgan, Lisa; Quinn, Marie; Amey, Isobel; Baird, Yolanda; Cotterill, Donna; Cumlat, Lourdes; Winter, Louise; Greer, Sandra; Spurdle, Katie; Allison, Joanna; Dyer, Simon; Sweeting, Helen; Kordula, Jean.

In: Nature Communications, Vol. 6, 8019, 22.09.2015.

Research output: Contribution to journalArticle

Cordell, HJ, Han, Y, Mells, GF, Li, Y, Hirschfield, GM, Greene, CS, Xie, G, Juran, BD, Zhu, D, Qian, DC, Floyd, JAB, Morley, KI, Prati, D, Lleo, A, Cusi, D, Gershwin, ME, Anderson, CA, Lazaridis, KN, Invernizzi, P, Seldin, MF, Sandford, RN, Amos, CI, Siminovitch, KA, Schlicht, EM, Lammert, C, Atkinson, EJ, Chan, LL, De Andrade, M, Balschun, T, Mason, AL, Myers, RP, Zhang, J, Milkiewicz, P, Qu, J, Odin, JA, Luketic, VA, Bacon, BR, Bodenheimer, HC, Liakina, V, Vincent, C, Levy, C, Gregersen, PK, Almasio, PL, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, PM, Benedetti, A, Bernuzzi, F, Bianchi, I, Bragazzi, MC, Brunetto, M, Bruno, S, Casella, G, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, LS, Crosignani, A, Donato, MF, Elia, G, Fabris, L, Ferrari, C, Floreani, A, Foglieni, B, Fontana, R, Galli, A, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Mousa Hani, S, Muratori, L, Muratori, P, Niro, GA, Palmieri, VO, Picciotto, A, Podda, M, Portincasa, P, Ronca, V, Rosina, F, Rossi, S, Sogno, I, Spinzi, G, Spreafico, M, Strazzabosco, M, Tarallo, S, Tarocchi, M, Tiribelli, C, Toniutto, P, Vinci, M, Zuin, M, Ch'Ng, CL, Rahman, M, Yapp, T, Sturgess, R, Healey, C, Czajkowski, M, Gunasekera, A, Gyawali, P, Premchand, P, Kapur, K, Marley, R, Foster, G, Watson, A, Dias, A, Subhani, J, Harvey, R, McCorry, R, Ramanaden, D, Gasem, J, Evans, R, Mathialahan, T, Shorrock, C, Lipscomb, G, Southern, P, Tibble, J, Gorard, D, Palegwala, A, Jones, S, Carbone, M, Dawwas, M, Alexander, G, Dolwani, S, Prince, M, Foxton, M, Elphick, D, Mitchison, H, Gooding, I, Karmo, M, Saksena, S, Mendall, M, Patel, M, Ede, R, Austin, A, Sayer, J, Hankey, L, Hovell, C, Fisher, N, Carter, M, Koss, K, Piotrowicz, A, Grimley, C, Neal, D, Lim, G, Levi, S, Ala, A, Broad, A, Saeed, A, Wood, G, Brown, J, Wilkinson, M, Gordon, H, Ramage, J, Ridpath, J, Ngatchu, T, Grover, B, Shaukat, S, Shidrawi, R, Abouda, G, Ali, F, Rees, I, Salam, I, Narain, M, Brown, A, Taylor-Robinson, S, Williams, S, Grellier, L, Banim, P, Das, D, Chilton, A, Heneghan, M, Curtis, H, Gess, M, Drake, I, Aldersley, M, Davies, M, Jones, R, McNair, A, Srirajaskanthan, R, Pitcher, M, Sen, S, Bird, G, Barnardo, A, Kitchen, P, Yoong, K, Chirag, O, Sivaramakrishnan, N, MacFaul, G, Jones, D, Shah, A, Evans, C, Saha, S, Pollock, K, Bramley, P, Mukhopadhya, A, Fraser, A, Mills, P, Shallcross, C, Campbell, S, Bathgate, A, Shepherd, A, Dillon, J, Rushbrook, S, Przemioslo, R, Macdonald, C, Metcalf, J, Shmueli, U, Davis, A, Naqvi, A, Lee, T, Stephen, D, Collier, J, Klass, H, Ninkovic, M, Cramp, M, Sharer, N, Aspinall, R, Goggin, P, Ghosh, D, Douds, A, Hoeroldt, B, Booth, J, Williams, E, Hussaini, H, Stableforth, W, Ayres, R, Thorburn, D, Marshall, E, Burroughs, A, Mann, S, Lombard, M, Richardson, P, Patanwala, I, Maltby, J, Brookes, M, Mathew, R, Vyas, S, Singhal, S, Gleeson, D, Misra, S, Butterworth, J, George, K, Harding, T, Douglass, A, Panter, S, Shearman, J, Bray, G, Butcher, G, Forton, D, McLindon, J, Cowan, M, Whatley, G, Mandal, A, Gupta, H, Sanghi, P, Jain, S, Pereira, S, Prasad, G, Watts, G, Wright, M, Neuberger, J, Gordon, F, Unitt, E, Grant, A, Delahooke, T, Higham, A, Brind, A, Cox, M, Ramakrishnan, S, King, A, Collins, C, Whalley, S, Li, A, Fraser, J, Bell, A, Wong, VS, Singhal, A, Gee, I, Ang, Y, Ransford, R, Gotto, J, Millson, C, Bowles, J, Thomas, C, Harrison, M, Galaska, R, Kendall, J, Whiteman, J, Lawlor, C, Gray, C, Elliott, K, Mulvaney-Jones, C, Hobson, L, Van Duyvenvoorde, G, Loftus, A, Seward, K, Penn, R, Maiden, J, Damant, R, Hails, J, Cloudsdale, R, Silvestre, V, Glenn, S, Dungca, E, Wheatley, N, Doyle, H, Kent, M, Hamilton, C, Braim, D, Wooldridge, H, Abrahams, R, Paton, A, Lancaster, N, Gibbins, A, Hogben, K, Desousa, P, Muscariu, F, Musselwhite, J, McKay, A, Tan, L, Foale, C, Brighton, J, Flahive, K, Nambela, E, Townshend, P, Ford, C, Holder, S, Palmer, C, Featherstone, J, Nasseri, M, Sadeghian, J, Williams, B, Thomas, C, Rolls, SA, Hynes, A, Duggan, C, Jones, S, Crossey, M, Stansfield, G, MacNicol, C, Wilkins, J, Wilhelmsen, E, Raymode, P, Lee, HJ, Durant, E, Bishop, R, Ncube, N, Tripoli, S, Casey, R, Cowley, C, Miller, R, Houghton, K, Ducker, S, Wright, F, Bird, B, Baxter, G, Keggans, J, Hughes, M, Grieve, E, Young, K, Williams, D, Ocker, K, Hines, F, Martin, K, Innes, C, Valliani, T, Fairlamb, H, Thornthwaite, S, Eastick, A, Tanqueray, E, Morrison, J, Holbrook, B, Browning, J, Walker, K, Congreave, S, Verheyden, J, Slininger, S, Stafford, L, O'Donnell, D, Ainsworth, M, Lord, S, Kent, L, March, L, Dickson, C, Simpson, D, Longhurst, B, Hayes, M, Shpuza, E, White, N, Besley, S, Pearson, S, Wright, A, Jones, L, Gunter, E, Dewhurst, H, Fouracres, A, Farrington, L, Graves, L, Marriott, S, Leoni, M, Tyrer, D, Martin, K, Dali-Kemmery, L, Lambourne, V, Green, M, Sirdefield, D, Amor, K, Colley, J, Shinder, B, Jones, J, Mills, M, Carnahan, M, Taylor, N, Boulton, K, Tregonning, J, Brown, C, Clifford, G, Archer, E, Hamilton, M, Curtis, J, Shewan, T, Walsh, S, Warner, K, Netherton, K, Mupudzi, M, Gunson, B, Gitahi, J, Gocher, D, Batham, S, Pateman, H, Desmennu, S, Conder, J, Clement, D, Gallagher, S, Orpe, J, Chan, P, Currie, L, O'Donohoe, L, Oblak, M, Morgan, L, Quinn, M, Amey, I, Baird, Y, Cotterill, D, Cumlat, L, Winter, L, Greer, S, Spurdle, K, Allison, J, Dyer, S, Sweeting, H & Kordula, J 2015, 'International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways', Nature Communications, vol. 6, 8019. https://doi.org/10.1038/ncomms9019
Cordell, Heather J. ; Han, Younghun ; Mells, George F. ; Li, Yafang ; Hirschfield, Gideon M. ; Greene, Casey S. ; Xie, Gang ; Juran, Brian D. ; Zhu, Dakai ; Qian, David C. ; Floyd, James A B ; Morley, Katherine I. ; Prati, Daniele ; Lleo, Ana ; Cusi, Daniele ; Gershwin, M. Eric ; Anderson, Carl A. ; Lazaridis, Konstantinos N. ; Invernizzi, Pietro ; Seldin, Michael F ; Sandford, Richard N. ; Amos, Christopher I. ; Siminovitch, Katherine A. ; Schlicht, Erik M. ; Lammert, Craig ; Atkinson, Elizabeth J. ; Chan, Landon L. ; De Andrade, Mariza ; Balschun, Tobias ; Mason, Andrew L. ; Myers, Robert P. ; Zhang, Jinyi ; Milkiewicz, Piotr ; Qu, Jia ; Odin, Joseph A. ; Luketic, Velimir A. ; Bacon, Bruce R. ; Bodenheimer, Henry C. ; Liakina, Valentina ; Vincent, Catherine ; Levy, Cynthia ; Gregersen, Peter K. ; Almasio, Piero L. ; Alvaro, Domenico ; Andreone, Pietro ; Andriulli, Angelo ; Barlassina, Cristina ; Battezzati, Pier Maria ; Benedetti, Antonio ; Bernuzzi, Francesca ; Bianchi, Ilaria ; Bragazzi, Maria Consiglia ; Brunetto, Maurizia ; Bruno, Savino ; Casella, Giovanni ; Coco, Barbara ; Colli, Agostino ; Colombo, Massimo ; Colombo, Silvia ; Cursaro, Carmela ; Crocè, Lory Saveria ; Crosignani, Andrea ; Donato, Maria Francesca ; Elia, Gianfranco ; Fabris, Luca ; Ferrari, Carlo ; Floreani, Annarosa ; Foglieni, Barbara ; Fontana, Rosanna ; Galli, Andrea ; Lazzari, Roberta ; Macaluso, Fabio ; Malinverno, Federica ; Marra, Fabio ; Marzioni, Marco ; Mattalia, Alberto ; Montanari, Renzo ; Morini, Lorenzo ; Morisco, Filomena ; Mousa Hani, S. ; Muratori, Luigi ; Muratori, Paolo ; Niro, Grazia A. ; Palmieri, Vincenzo O. ; Picciotto, Antonio ; Podda, Mauro ; Portincasa, Piero ; Ronca, Vincenzo ; Rosina, Floriano ; Rossi, Sonia ; Sogno, Ilaria ; Spinzi, Giancarlo ; Spreafico, Marta ; Strazzabosco, Mario ; Tarallo, Sonia ; Tarocchi, Mirko ; Tiribelli, Claudio ; Toniutto, Pierluigi ; Vinci, Maria ; Zuin, Massimo ; Ch'Ng, Chin Lye ; Rahman, Mesbah ; Yapp, Tom ; Sturgess, Richard ; Healey, Christopher ; Czajkowski, Marek ; Gunasekera, Anton ; Gyawali, Pranab ; Premchand, Purushothaman ; Kapur, Kapil ; Marley, Richard ; Foster, Graham ; Watson, Alan ; Dias, Aruna ; Subhani, Javaid ; Harvey, Rory ; McCorry, Roger ; Ramanaden, David ; Gasem, Jaber ; Evans, Richard ; Mathialahan, Thiriloganathan ; Shorrock, Christopher ; Lipscomb, George ; Southern, Paul ; Tibble, Jeremy ; Gorard, David ; Palegwala, Altaf ; Jones, Susan ; Carbone, Marco ; Dawwas, Mohamed ; Alexander, Graeme ; Dolwani, Sunil ; Prince, Martin ; Foxton, Matthew ; Elphick, David ; Mitchison, Harriet ; Gooding, Ian ; Karmo, Mazn ; Saksena, Sushma ; Mendall, Mike ; Patel, Minesh ; Ede, Roland ; Austin, Andrew ; Sayer, Joanna ; Hankey, Lorraine ; Hovell, Christopher ; Fisher, Neil ; Carter, Martyn ; Koss, Konrad ; Piotrowicz, Andrzej ; Grimley, Charles ; Neal, David ; Lim, Guan ; Levi, Sass ; Ala, Aftab ; Broad, Andrea ; Saeed, Athar ; Wood, Gordon ; Brown, Jonathan ; Wilkinson, Mark ; Gordon, Harriet ; Ramage, John ; Ridpath, Jo ; Ngatchu, Theodore ; Grover, Bob ; Shaukat, Syed ; Shidrawi, Ray ; Abouda, George ; Ali, Faiz ; Rees, Ian ; Salam, Imroz ; Narain, Mark ; Brown, Ashley ; Taylor-Robinson, Simon ; Williams, Simon ; Grellier, Leonie ; Banim, Paul ; Das, Debasish ; Chilton, Andrew ; Heneghan, Michael ; Curtis, Howard ; Gess, Markus ; Drake, Ian ; Aldersley, Mark ; Davies, Mervyn ; Jones, Rebecca ; McNair, Alastair ; Srirajaskanthan, Raj ; Pitcher, Maxton ; Sen, Sambit ; Bird, George ; Barnardo, Adrian ; Kitchen, Paul ; Yoong, Kevin ; Chirag, Oza ; Sivaramakrishnan, Nurani ; MacFaul, George ; Jones, David ; Shah, Amir ; Evans, Chris ; Saha, Subrata ; Pollock, Katharine ; Bramley, Peter ; Mukhopadhya, Ashis ; Fraser, Andrew ; Mills, Peter ; Shallcross, Christopher ; Campbell, Stewart ; Bathgate, Andrew ; Shepherd, Alan ; Dillon, John ; Rushbrook, Simon ; Przemioslo, Robert ; Macdonald, Christopher ; Metcalf, Jane ; Shmueli, Udi ; Davis, Andrew ; Naqvi, Asifabbas ; Lee, Tom ; Stephen, Dyder ; Collier, Jane ; Klass, Howard ; Ninkovic, Mary ; Cramp, Matthew ; Sharer, Nicholas ; Aspinall, Richard ; Goggin, Patrick ; Ghosh, Deb ; Douds, Andrew ; Hoeroldt, Barbara ; Booth, Jonathan ; Williams, Earl ; Hussaini, Hyder ; Stableforth, William ; Ayres, Reuben ; Thorburn, Douglas ; Marshall, Eileen ; Burroughs, Andrew ; Mann, Steven ; Lombard, Martin ; Richardson, Paul ; Patanwala, Imran ; Maltby, Julia ; Brookes, Matthew ; Mathew, Ray ; Vyas, Samir ; Singhal, Saket ; Gleeson, Dermot ; Misra, Sharat ; Butterworth, Jeff ; George, Keith ; Harding, Tim ; Douglass, Andrew ; Panter, Simon ; Shearman, Jeremy ; Bray, Gary ; Butcher, Graham ; Forton, Daniel ; McLindon, John ; Cowan, Matthew ; Whatley, Gregory ; Mandal, Aditya ; Gupta, Hemant ; Sanghi, Pradeep ; Jain, Sanjiv ; Pereira, Steve ; Prasad, Geeta ; Watts, Gill ; Wright, Mark ; Neuberger, James ; Gordon, Fiona ; Unitt, Esther ; Grant, Allister ; Delahooke, Toby ; Higham, Andrew ; Brind, Alison ; Cox, Mark ; Ramakrishnan, Subramaniam ; King, Alistair ; Collins, Carole ; Whalley, Simon ; Li, Andy ; Fraser, Jocelyn ; Bell, Andrew ; Wong, Voi Shim ; Singhal, Amit ; Gee, Ian ; Ang, Yeng ; Ransford, Rupert ; Gotto, James ; Millson, Charles ; Bowles, Jane ; Thomas, Caradog ; Harrison, Melanie ; Galaska, Roman ; Kendall, Jennie ; Whiteman, Jessica ; Lawlor, Caroline ; Gray, Catherine ; Elliott, Keith ; Mulvaney-Jones, Caroline ; Hobson, Lucie ; Van Duyvenvoorde, Greta ; Loftus, Alison ; Seward, Katie ; Penn, Ruth ; Maiden, Jane ; Damant, Rose ; Hails, Janeane ; Cloudsdale, Rebecca ; Silvestre, Valeria ; Glenn, Sue ; Dungca, Eleanor ; Wheatley, Natalie ; Doyle, Helen ; Kent, Melanie ; Hamilton, Caroline ; Braim, Delyth ; Wooldridge, Helen ; Abrahams, Rachel ; Paton, Alison ; Lancaster, Nicola ; Gibbins, Andrew ; Hogben, Karen ; Desousa, Phillipa ; Muscariu, Florin ; Musselwhite, Janine ; McKay, Alexandra ; Tan, Laiting ; Foale, Carole ; Brighton, Jacqueline ; Flahive, Kerry ; Nambela, Estelle ; Townshend, Paula ; Ford, Chris ; Holder, Sophie ; Palmer, Caroline ; Featherstone, James ; Nasseri, Mariam ; Sadeghian, Joy ; Williams, Bronwen ; Thomas, Carol ; Rolls, Sally Ann ; Hynes, Abigail ; Duggan, Claire ; Jones, Sarah ; Crossey, Mary ; Stansfield, Glynis ; MacNicol, Carolyn ; Wilkins, Joy ; Wilhelmsen, Elva ; Raymode, Parizade ; Lee, Hye Jeong ; Durant, Emma ; Bishop, Rebecca ; Ncube, Noma ; Tripoli, Sherill ; Casey, Rebecca ; Cowley, Caroline ; Miller, Richard ; Houghton, Kathryn ; Ducker, Samantha ; Wright, Fiona ; Bird, Bridget ; Baxter, Gwen ; Keggans, Janie ; Hughes, Maggie ; Grieve, Emma ; Young, Karin ; Williams, D. ; Ocker, Kate ; Hines, Frances ; Martin, Kirsty ; Innes, Caron ; Valliani, Talal ; Fairlamb, Helen ; Thornthwaite, Sarah ; Eastick, Anne ; Tanqueray, Elizabeth ; Morrison, Jennifer ; Holbrook, Becky ; Browning, Julie ; Walker, Kirsten ; Congreave, Susan ; Verheyden, Juliette ; Slininger, Susan ; Stafford, Lizzie ; O'Donnell, Denise ; Ainsworth, Mark ; Lord, Susan ; Kent, Linda ; March, Linda ; Dickson, Christine ; Simpson, Diane ; Longhurst, Beverley ; Hayes, Maria ; Shpuza, Ervin ; White, Nikki ; Besley, Sarah ; Pearson, Sallyanne ; Wright, Alice ; Jones, Linda ; Gunter, Emma ; Dewhurst, Hannah ; Fouracres, Anna ; Farrington, Liz ; Graves, Lyn ; Marriott, Suzie ; Leoni, Marina ; Tyrer, David ; Martin, Kate ; Dali-Kemmery, Lola ; Lambourne, Victoria ; Green, Marie ; Sirdefield, Dawn ; Amor, Kelly ; Colley, Julie ; Shinder, Bal ; Jones, Jayne ; Mills, Marisa ; Carnahan, Mandy ; Taylor, Natalie ; Boulton, Kerenza ; Tregonning, Julie ; Brown, Carly ; Clifford, Gayle ; Archer, Emily ; Hamilton, Maria ; Curtis, Janette ; Shewan, Tracey ; Walsh, Sue ; Warner, Karen ; Netherton, Kimberley ; Mupudzi, McDonald ; Gunson, Bridget ; Gitahi, Jane ; Gocher, Denise ; Batham, Sally ; Pateman, Hilary ; Desmennu, Senayon ; Conder, Jill ; Clement, Darren ; Gallagher, Susan ; Orpe, Jacky ; Chan, Puiching ; Currie, Lynn ; O'Donohoe, Lynn ; Oblak, Metod ; Morgan, Lisa ; Quinn, Marie ; Amey, Isobel ; Baird, Yolanda ; Cotterill, Donna ; Cumlat, Lourdes ; Winter, Louise ; Greer, Sandra ; Spurdle, Katie ; Allison, Joanna ; Dyer, Simon ; Sweeting, Helen ; Kordula, Jean. / International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. In: Nature Communications. 2015 ; Vol. 6.
@article{60213bf549104c9c904ca5008a46a9fc,
title = "International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways",
abstract = "Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined -8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.",
author = "Cordell, {Heather J.} and Younghun Han and Mells, {George F.} and Yafang Li and Hirschfield, {Gideon M.} and Greene, {Casey S.} and Gang Xie and Juran, {Brian D.} and Dakai Zhu and Qian, {David C.} and Floyd, {James A B} and Morley, {Katherine I.} and Daniele Prati and Ana Lleo and Daniele Cusi and Gershwin, {M. Eric} and Anderson, {Carl A.} and Lazaridis, {Konstantinos N.} and Pietro Invernizzi and Seldin, {Michael F} and Sandford, {Richard N.} and Amos, {Christopher I.} and Siminovitch, {Katherine A.} and Schlicht, {Erik M.} and Craig Lammert and Atkinson, {Elizabeth J.} and Chan, {Landon L.} and {De Andrade}, Mariza and Tobias Balschun and Mason, {Andrew L.} and Myers, {Robert P.} and Jinyi Zhang and Piotr Milkiewicz and Jia Qu and Odin, {Joseph A.} and Luketic, {Velimir A.} and Bacon, {Bruce R.} and Bodenheimer, {Henry C.} and Valentina Liakina and Catherine Vincent and Cynthia Levy and Gregersen, {Peter K.} and Almasio, {Piero L.} and Domenico Alvaro and Pietro Andreone and Angelo Andriulli and Cristina Barlassina and Battezzati, {Pier Maria} and Antonio Benedetti and Francesca Bernuzzi and Ilaria Bianchi and Bragazzi, {Maria Consiglia} and Maurizia Brunetto and Savino Bruno and Giovanni Casella and Barbara Coco and Agostino Colli and Massimo Colombo and Silvia Colombo and Carmela Cursaro and Croc{\`e}, {Lory Saveria} and Andrea Crosignani and Donato, {Maria Francesca} and Gianfranco Elia and Luca Fabris and Carlo Ferrari and Annarosa Floreani and Barbara Foglieni and Rosanna Fontana and Andrea Galli and Roberta Lazzari and Fabio Macaluso and Federica Malinverno and Fabio Marra and Marco Marzioni and Alberto Mattalia and Renzo Montanari and Lorenzo Morini and Filomena Morisco and {Mousa Hani}, S. and Luigi Muratori and Paolo Muratori and Niro, {Grazia A.} and Palmieri, {Vincenzo O.} and Antonio Picciotto and Mauro Podda and Piero Portincasa and Vincenzo Ronca and Floriano Rosina and Sonia Rossi and Ilaria Sogno and Giancarlo Spinzi and Marta Spreafico and Mario Strazzabosco and Sonia Tarallo and Mirko Tarocchi and Claudio Tiribelli and Pierluigi Toniutto and Maria Vinci and Massimo Zuin and Ch'Ng, {Chin Lye} and Mesbah Rahman and Tom Yapp and Richard Sturgess and Christopher Healey and Marek Czajkowski and Anton Gunasekera and Pranab Gyawali and Purushothaman Premchand and Kapil Kapur and Richard Marley and Graham Foster and Alan Watson and Aruna Dias and Javaid Subhani and Rory Harvey and Roger McCorry and David Ramanaden and Jaber Gasem and Richard Evans and Thiriloganathan Mathialahan and Christopher Shorrock and George Lipscomb and Paul Southern and Jeremy Tibble and David Gorard and Altaf Palegwala and Susan Jones and Marco Carbone and Mohamed Dawwas and Graeme Alexander and Sunil Dolwani and Martin Prince and Matthew Foxton and David Elphick and Harriet Mitchison and Ian Gooding and Mazn Karmo and Sushma Saksena and Mike Mendall and Minesh Patel and Roland Ede and Andrew Austin and Joanna Sayer and Lorraine Hankey and Christopher Hovell and Neil Fisher and Martyn Carter and Konrad Koss and Andrzej Piotrowicz and Charles Grimley and David Neal and Guan Lim and Sass Levi and Aftab Ala and Andrea Broad and Athar Saeed and Gordon Wood and Jonathan Brown and Mark Wilkinson and Harriet Gordon and John Ramage and Jo Ridpath and Theodore Ngatchu and Bob Grover and Syed Shaukat and Ray Shidrawi and George Abouda and Faiz Ali and Ian Rees and Imroz Salam and Mark Narain and Ashley Brown and Simon Taylor-Robinson and Simon Williams and Leonie Grellier and Paul Banim and Debasish Das and Andrew Chilton and Michael Heneghan and Howard Curtis and Markus Gess and Ian Drake and Mark Aldersley and Mervyn Davies and Rebecca Jones and Alastair McNair and Raj Srirajaskanthan and Maxton Pitcher and Sambit Sen and George Bird and Adrian Barnardo and Paul Kitchen and Kevin Yoong and Oza Chirag and Nurani Sivaramakrishnan and George MacFaul and David Jones and Amir Shah and Chris Evans and Subrata Saha and Katharine Pollock and Peter Bramley and Ashis Mukhopadhya and Andrew Fraser and Peter Mills and Christopher Shallcross and Stewart Campbell and Andrew Bathgate and Alan Shepherd and John Dillon and Simon Rushbrook and Robert Przemioslo and Christopher Macdonald and Jane Metcalf and Udi Shmueli and Andrew Davis and Asifabbas Naqvi and Tom Lee and Dyder Stephen and Jane Collier and Howard Klass and Mary Ninkovic and Matthew Cramp and Nicholas Sharer and Richard Aspinall and Patrick Goggin and Deb Ghosh and Andrew Douds and Barbara Hoeroldt and Jonathan Booth and Earl Williams and Hyder Hussaini and William Stableforth and Reuben Ayres and Douglas Thorburn and Eileen Marshall and Andrew Burroughs and Steven Mann and Martin Lombard and Paul Richardson and Imran Patanwala and Julia Maltby and Matthew Brookes and Ray Mathew and Samir Vyas and Saket Singhal and Dermot Gleeson and Sharat Misra and Jeff Butterworth and Keith George and Tim Harding and Andrew Douglass and Simon Panter and Jeremy Shearman and Gary Bray and Graham Butcher and Daniel Forton and John McLindon and Matthew Cowan and Gregory Whatley and Aditya Mandal and Hemant Gupta and Pradeep Sanghi and Sanjiv Jain and Steve Pereira and Geeta Prasad and Gill Watts and Mark Wright and James Neuberger and Fiona Gordon and Esther Unitt and Allister Grant and Toby Delahooke and Andrew Higham and Alison Brind and Mark Cox and Subramaniam Ramakrishnan and Alistair King and Carole Collins and Simon Whalley and Andy Li and Jocelyn Fraser and Andrew Bell and Wong, {Voi Shim} and Amit Singhal and Ian Gee and Yeng Ang and Rupert Ransford and James Gotto and Charles Millson and Jane Bowles and Caradog Thomas and Melanie Harrison and Roman Galaska and Jennie Kendall and Jessica Whiteman and Caroline Lawlor and Catherine Gray and Keith Elliott and Caroline Mulvaney-Jones and Lucie Hobson and {Van Duyvenvoorde}, Greta and Alison Loftus and Katie Seward and Ruth Penn and Jane Maiden and Rose Damant and Janeane Hails and Rebecca Cloudsdale and Valeria Silvestre and Sue Glenn and Eleanor Dungca and Natalie Wheatley and Helen Doyle and Melanie Kent and Caroline Hamilton and Delyth Braim and Helen Wooldridge and Rachel Abrahams and Alison Paton and Nicola Lancaster and Andrew Gibbins and Karen Hogben and Phillipa Desousa and Florin Muscariu and Janine Musselwhite and Alexandra McKay and Laiting Tan and Carole Foale and Jacqueline Brighton and Kerry Flahive and Estelle Nambela and Paula Townshend and Chris Ford and Sophie Holder and Caroline Palmer and James Featherstone and Mariam Nasseri and Joy Sadeghian and Bronwen Williams and Carol Thomas and Rolls, {Sally Ann} and Abigail Hynes and Claire Duggan and Sarah Jones and Mary Crossey and Glynis Stansfield and Carolyn MacNicol and Joy Wilkins and Elva Wilhelmsen and Parizade Raymode and Lee, {Hye Jeong} and Emma Durant and Rebecca Bishop and Noma Ncube and Sherill Tripoli and Rebecca Casey and Caroline Cowley and Richard Miller and Kathryn Houghton and Samantha Ducker and Fiona Wright and Bridget Bird and Gwen Baxter and Janie Keggans and Maggie Hughes and Emma Grieve and Karin Young and D. Williams and Kate Ocker and Frances Hines and Kirsty Martin and Caron Innes and Talal Valliani and Helen Fairlamb and Sarah Thornthwaite and Anne Eastick and Elizabeth Tanqueray and Jennifer Morrison and Becky Holbrook and Julie Browning and Kirsten Walker and Susan Congreave and Juliette Verheyden and Susan Slininger and Lizzie Stafford and Denise O'Donnell and Mark Ainsworth and Susan Lord and Linda Kent and Linda March and Christine Dickson and Diane Simpson and Beverley Longhurst and Maria Hayes and Ervin Shpuza and Nikki White and Sarah Besley and Sallyanne Pearson and Alice Wright and Linda Jones and Emma Gunter and Hannah Dewhurst and Anna Fouracres and Liz Farrington and Lyn Graves and Suzie Marriott and Marina Leoni and David Tyrer and Kate Martin and Lola Dali-Kemmery and Victoria Lambourne and Marie Green and Dawn Sirdefield and Kelly Amor and Julie Colley and Bal Shinder and Jayne Jones and Marisa Mills and Mandy Carnahan and Natalie Taylor and Kerenza Boulton and Julie Tregonning and Carly Brown and Gayle Clifford and Emily Archer and Maria Hamilton and Janette Curtis and Tracey Shewan and Sue Walsh and Karen Warner and Kimberley Netherton and McDonald Mupudzi and Bridget Gunson and Jane Gitahi and Denise Gocher and Sally Batham and Hilary Pateman and Senayon Desmennu and Jill Conder and Darren Clement and Susan Gallagher and Jacky Orpe and Puiching Chan and Lynn Currie and Lynn O'Donohoe and Metod Oblak and Lisa Morgan and Marie Quinn and Isobel Amey and Yolanda Baird and Donna Cotterill and Lourdes Cumlat and Louise Winter and Sandra Greer and Katie Spurdle and Joanna Allison and Simon Dyer and Helen Sweeting and Jean Kordula",
year = "2015",
month = "9",
day = "22",
doi = "10.1038/ncomms9019",
language = "English (US)",
volume = "6",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

AU - Cordell, Heather J.

AU - Han, Younghun

AU - Mells, George F.

AU - Li, Yafang

AU - Hirschfield, Gideon M.

AU - Greene, Casey S.

AU - Xie, Gang

AU - Juran, Brian D.

AU - Zhu, Dakai

AU - Qian, David C.

AU - Floyd, James A B

AU - Morley, Katherine I.

AU - Prati, Daniele

AU - Lleo, Ana

AU - Cusi, Daniele

AU - Gershwin, M. Eric

AU - Anderson, Carl A.

AU - Lazaridis, Konstantinos N.

AU - Invernizzi, Pietro

AU - Seldin, Michael F

AU - Sandford, Richard N.

AU - Amos, Christopher I.

AU - Siminovitch, Katherine A.

AU - Schlicht, Erik M.

AU - Lammert, Craig

AU - Atkinson, Elizabeth J.

AU - Chan, Landon L.

AU - De Andrade, Mariza

AU - Balschun, Tobias

AU - Mason, Andrew L.

AU - Myers, Robert P.

AU - Zhang, Jinyi

AU - Milkiewicz, Piotr

AU - Qu, Jia

AU - Odin, Joseph A.

AU - Luketic, Velimir A.

AU - Bacon, Bruce R.

AU - Bodenheimer, Henry C.

AU - Liakina, Valentina

AU - Vincent, Catherine

AU - Levy, Cynthia

AU - Gregersen, Peter K.

AU - Almasio, Piero L.

AU - Alvaro, Domenico

AU - Andreone, Pietro

AU - Andriulli, Angelo

AU - Barlassina, Cristina

AU - Battezzati, Pier Maria

AU - Benedetti, Antonio

AU - Bernuzzi, Francesca

AU - Bianchi, Ilaria

AU - Bragazzi, Maria Consiglia

AU - Brunetto, Maurizia

AU - Bruno, Savino

AU - Casella, Giovanni

AU - Coco, Barbara

AU - Colli, Agostino

AU - Colombo, Massimo

AU - Colombo, Silvia

AU - Cursaro, Carmela

AU - Crocè, Lory Saveria

AU - Crosignani, Andrea

AU - Donato, Maria Francesca

AU - Elia, Gianfranco

AU - Fabris, Luca

AU - Ferrari, Carlo

AU - Floreani, Annarosa

AU - Foglieni, Barbara

AU - Fontana, Rosanna

AU - Galli, Andrea

AU - Lazzari, Roberta

AU - Macaluso, Fabio

AU - Malinverno, Federica

AU - Marra, Fabio

AU - Marzioni, Marco

AU - Mattalia, Alberto

AU - Montanari, Renzo

AU - Morini, Lorenzo

AU - Morisco, Filomena

AU - Mousa Hani, S.

AU - Muratori, Luigi

AU - Muratori, Paolo

AU - Niro, Grazia A.

AU - Palmieri, Vincenzo O.

AU - Picciotto, Antonio

AU - Podda, Mauro

AU - Portincasa, Piero

AU - Ronca, Vincenzo

AU - Rosina, Floriano

AU - Rossi, Sonia

AU - Sogno, Ilaria

AU - Spinzi, Giancarlo

AU - Spreafico, Marta

AU - Strazzabosco, Mario

AU - Tarallo, Sonia

AU - Tarocchi, Mirko

AU - Tiribelli, Claudio

AU - Toniutto, Pierluigi

AU - Vinci, Maria

AU - Zuin, Massimo

AU - Ch'Ng, Chin Lye

AU - Rahman, Mesbah

AU - Yapp, Tom

AU - Sturgess, Richard

AU - Healey, Christopher

AU - Czajkowski, Marek

AU - Gunasekera, Anton

AU - Gyawali, Pranab

AU - Premchand, Purushothaman

AU - Kapur, Kapil

AU - Marley, Richard

AU - Foster, Graham

AU - Watson, Alan

AU - Dias, Aruna

AU - Subhani, Javaid

AU - Harvey, Rory

AU - McCorry, Roger

AU - Ramanaden, David

AU - Gasem, Jaber

AU - Evans, Richard

AU - Mathialahan, Thiriloganathan

AU - Shorrock, Christopher

AU - Lipscomb, George

AU - Southern, Paul

AU - Tibble, Jeremy

AU - Gorard, David

AU - Palegwala, Altaf

AU - Jones, Susan

AU - Carbone, Marco

AU - Dawwas, Mohamed

AU - Alexander, Graeme

AU - Dolwani, Sunil

AU - Prince, Martin

AU - Foxton, Matthew

AU - Elphick, David

AU - Mitchison, Harriet

AU - Gooding, Ian

AU - Karmo, Mazn

AU - Saksena, Sushma

AU - Mendall, Mike

AU - Patel, Minesh

AU - Ede, Roland

AU - Austin, Andrew

AU - Sayer, Joanna

AU - Hankey, Lorraine

AU - Hovell, Christopher

AU - Fisher, Neil

AU - Carter, Martyn

AU - Koss, Konrad

AU - Piotrowicz, Andrzej

AU - Grimley, Charles

AU - Neal, David

AU - Lim, Guan

AU - Levi, Sass

AU - Ala, Aftab

AU - Broad, Andrea

AU - Saeed, Athar

AU - Wood, Gordon

AU - Brown, Jonathan

AU - Wilkinson, Mark

AU - Gordon, Harriet

AU - Ramage, John

AU - Ridpath, Jo

AU - Ngatchu, Theodore

AU - Grover, Bob

AU - Shaukat, Syed

AU - Shidrawi, Ray

AU - Abouda, George

AU - Ali, Faiz

AU - Rees, Ian

AU - Salam, Imroz

AU - Narain, Mark

AU - Brown, Ashley

AU - Taylor-Robinson, Simon

AU - Williams, Simon

AU - Grellier, Leonie

AU - Banim, Paul

AU - Das, Debasish

AU - Chilton, Andrew

AU - Heneghan, Michael

AU - Curtis, Howard

AU - Gess, Markus

AU - Drake, Ian

AU - Aldersley, Mark

AU - Davies, Mervyn

AU - Jones, Rebecca

AU - McNair, Alastair

AU - Srirajaskanthan, Raj

AU - Pitcher, Maxton

AU - Sen, Sambit

AU - Bird, George

AU - Barnardo, Adrian

AU - Kitchen, Paul

AU - Yoong, Kevin

AU - Chirag, Oza

AU - Sivaramakrishnan, Nurani

AU - MacFaul, George

AU - Jones, David

AU - Shah, Amir

AU - Evans, Chris

AU - Saha, Subrata

AU - Pollock, Katharine

AU - Bramley, Peter

AU - Mukhopadhya, Ashis

AU - Fraser, Andrew

AU - Mills, Peter

AU - Shallcross, Christopher

AU - Campbell, Stewart

AU - Bathgate, Andrew

AU - Shepherd, Alan

AU - Dillon, John

AU - Rushbrook, Simon

AU - Przemioslo, Robert

AU - Macdonald, Christopher

AU - Metcalf, Jane

AU - Shmueli, Udi

AU - Davis, Andrew

AU - Naqvi, Asifabbas

AU - Lee, Tom

AU - Stephen, Dyder

AU - Collier, Jane

AU - Klass, Howard

AU - Ninkovic, Mary

AU - Cramp, Matthew

AU - Sharer, Nicholas

AU - Aspinall, Richard

AU - Goggin, Patrick

AU - Ghosh, Deb

AU - Douds, Andrew

AU - Hoeroldt, Barbara

AU - Booth, Jonathan

AU - Williams, Earl

AU - Hussaini, Hyder

AU - Stableforth, William

AU - Ayres, Reuben

AU - Thorburn, Douglas

AU - Marshall, Eileen

AU - Burroughs, Andrew

AU - Mann, Steven

AU - Lombard, Martin

AU - Richardson, Paul

AU - Patanwala, Imran

AU - Maltby, Julia

AU - Brookes, Matthew

AU - Mathew, Ray

AU - Vyas, Samir

AU - Singhal, Saket

AU - Gleeson, Dermot

AU - Misra, Sharat

AU - Butterworth, Jeff

AU - George, Keith

AU - Harding, Tim

AU - Douglass, Andrew

AU - Panter, Simon

AU - Shearman, Jeremy

AU - Bray, Gary

AU - Butcher, Graham

AU - Forton, Daniel

AU - McLindon, John

AU - Cowan, Matthew

AU - Whatley, Gregory

AU - Mandal, Aditya

AU - Gupta, Hemant

AU - Sanghi, Pradeep

AU - Jain, Sanjiv

AU - Pereira, Steve

AU - Prasad, Geeta

AU - Watts, Gill

AU - Wright, Mark

AU - Neuberger, James

AU - Gordon, Fiona

AU - Unitt, Esther

AU - Grant, Allister

AU - Delahooke, Toby

AU - Higham, Andrew

AU - Brind, Alison

AU - Cox, Mark

AU - Ramakrishnan, Subramaniam

AU - King, Alistair

AU - Collins, Carole

AU - Whalley, Simon

AU - Li, Andy

AU - Fraser, Jocelyn

AU - Bell, Andrew

AU - Wong, Voi Shim

AU - Singhal, Amit

AU - Gee, Ian

AU - Ang, Yeng

AU - Ransford, Rupert

AU - Gotto, James

AU - Millson, Charles

AU - Bowles, Jane

AU - Thomas, Caradog

AU - Harrison, Melanie

AU - Galaska, Roman

AU - Kendall, Jennie

AU - Whiteman, Jessica

AU - Lawlor, Caroline

AU - Gray, Catherine

AU - Elliott, Keith

AU - Mulvaney-Jones, Caroline

AU - Hobson, Lucie

AU - Van Duyvenvoorde, Greta

AU - Loftus, Alison

AU - Seward, Katie

AU - Penn, Ruth

AU - Maiden, Jane

AU - Damant, Rose

AU - Hails, Janeane

AU - Cloudsdale, Rebecca

AU - Silvestre, Valeria

AU - Glenn, Sue

AU - Dungca, Eleanor

AU - Wheatley, Natalie

AU - Doyle, Helen

AU - Kent, Melanie

AU - Hamilton, Caroline

AU - Braim, Delyth

AU - Wooldridge, Helen

AU - Abrahams, Rachel

AU - Paton, Alison

AU - Lancaster, Nicola

AU - Gibbins, Andrew

AU - Hogben, Karen

AU - Desousa, Phillipa

AU - Muscariu, Florin

AU - Musselwhite, Janine

AU - McKay, Alexandra

AU - Tan, Laiting

AU - Foale, Carole

AU - Brighton, Jacqueline

AU - Flahive, Kerry

AU - Nambela, Estelle

AU - Townshend, Paula

AU - Ford, Chris

AU - Holder, Sophie

AU - Palmer, Caroline

AU - Featherstone, James

AU - Nasseri, Mariam

AU - Sadeghian, Joy

AU - Williams, Bronwen

AU - Thomas, Carol

AU - Rolls, Sally Ann

AU - Hynes, Abigail

AU - Duggan, Claire

AU - Jones, Sarah

AU - Crossey, Mary

AU - Stansfield, Glynis

AU - MacNicol, Carolyn

AU - Wilkins, Joy

AU - Wilhelmsen, Elva

AU - Raymode, Parizade

AU - Lee, Hye Jeong

AU - Durant, Emma

AU - Bishop, Rebecca

AU - Ncube, Noma

AU - Tripoli, Sherill

AU - Casey, Rebecca

AU - Cowley, Caroline

AU - Miller, Richard

AU - Houghton, Kathryn

AU - Ducker, Samantha

AU - Wright, Fiona

AU - Bird, Bridget

AU - Baxter, Gwen

AU - Keggans, Janie

AU - Hughes, Maggie

AU - Grieve, Emma

AU - Young, Karin

AU - Williams, D.

AU - Ocker, Kate

AU - Hines, Frances

AU - Martin, Kirsty

AU - Innes, Caron

AU - Valliani, Talal

AU - Fairlamb, Helen

AU - Thornthwaite, Sarah

AU - Eastick, Anne

AU - Tanqueray, Elizabeth

AU - Morrison, Jennifer

AU - Holbrook, Becky

AU - Browning, Julie

AU - Walker, Kirsten

AU - Congreave, Susan

AU - Verheyden, Juliette

AU - Slininger, Susan

AU - Stafford, Lizzie

AU - O'Donnell, Denise

AU - Ainsworth, Mark

AU - Lord, Susan

AU - Kent, Linda

AU - March, Linda

AU - Dickson, Christine

AU - Simpson, Diane

AU - Longhurst, Beverley

AU - Hayes, Maria

AU - Shpuza, Ervin

AU - White, Nikki

AU - Besley, Sarah

AU - Pearson, Sallyanne

AU - Wright, Alice

AU - Jones, Linda

AU - Gunter, Emma

AU - Dewhurst, Hannah

AU - Fouracres, Anna

AU - Farrington, Liz

AU - Graves, Lyn

AU - Marriott, Suzie

AU - Leoni, Marina

AU - Tyrer, David

AU - Martin, Kate

AU - Dali-Kemmery, Lola

AU - Lambourne, Victoria

AU - Green, Marie

AU - Sirdefield, Dawn

AU - Amor, Kelly

AU - Colley, Julie

AU - Shinder, Bal

AU - Jones, Jayne

AU - Mills, Marisa

AU - Carnahan, Mandy

AU - Taylor, Natalie

AU - Boulton, Kerenza

AU - Tregonning, Julie

AU - Brown, Carly

AU - Clifford, Gayle

AU - Archer, Emily

AU - Hamilton, Maria

AU - Curtis, Janette

AU - Shewan, Tracey

AU - Walsh, Sue

AU - Warner, Karen

AU - Netherton, Kimberley

AU - Mupudzi, McDonald

AU - Gunson, Bridget

AU - Gitahi, Jane

AU - Gocher, Denise

AU - Batham, Sally

AU - Pateman, Hilary

AU - Desmennu, Senayon

AU - Conder, Jill

AU - Clement, Darren

AU - Gallagher, Susan

AU - Orpe, Jacky

AU - Chan, Puiching

AU - Currie, Lynn

AU - O'Donohoe, Lynn

AU - Oblak, Metod

AU - Morgan, Lisa

AU - Quinn, Marie

AU - Amey, Isobel

AU - Baird, Yolanda

AU - Cotterill, Donna

AU - Cumlat, Lourdes

AU - Winter, Louise

AU - Greer, Sandra

AU - Spurdle, Katie

AU - Allison, Joanna

AU - Dyer, Simon

AU - Sweeting, Helen

AU - Kordula, Jean

PY - 2015/9/22

Y1 - 2015/9/22

N2 - Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined -8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.

AB - Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined -8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.

UR - http://www.scopus.com/inward/record.url?scp=84942244702&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84942244702&partnerID=8YFLogxK

U2 - 10.1038/ncomms9019

DO - 10.1038/ncomms9019

M3 - Article

VL - 6

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 8019

ER -