A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Vesela Gateva, Johanna K. Sandling, Geoff Hom, Kimberly E. Taylor, Sharon A. Chung, Xin Sun, Ward Ortmann, Roman Kosoy, Ricardo C. Ferreira, Gunnel Nordmark, Iva Gunnarsson, Elisabet Svenungsson, Leonid Padyukov, Gunnar Sturfelt, Andreas Jönsen, Anders A. Bengtsson, Solbritt Rantapää-Dahlqvist, Emily C. Baechler, Elizabeth E. Brown, Graciela S. AlarcónJeffrey C. Edberg, Rosalind Ramsey-Goldman, Gerald McGwin, John D. Reveille, Luis M. Vilá, Robert P. Kimberly, Susan Manzi, Michelle A. Petri, Annette Lee, Peter K. Gregersen, Michael F Seldin, Lars Rönnblom, Lindsey A. Criswell, Ann Christine Syvänen, Timothy W. Behrens, Robert R. Graham

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Abstract

Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P 5 × 10 8): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P 1 × 10 5. A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P 1 × 10 3) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.

Original languageEnglish (US)
Pages (from-to)1228-1233
Number of pages6
JournalNature Genetics
Volume41
Issue number11
DOIs
StatePublished - Nov 2009

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Systemic Lupus Erythematosus
Interleukin-10
Odds Ratio
Genome-Wide Association Study
Autoimmune Diseases
Single Nucleotide Polymorphism
Alleles
Genome

ASJC Scopus subject areas

  • Genetics

Cite this

Gateva, V., Sandling, J. K., Hom, G., Taylor, K. E., Chung, S. A., Sun, X., ... Graham, R. R. (2009). A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nature Genetics, 41(11), 1228-1233. https://doi.org/10.1038/ng.468

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. / Gateva, Vesela; Sandling, Johanna K.; Hom, Geoff; Taylor, Kimberly E.; Chung, Sharon A.; Sun, Xin; Ortmann, Ward; Kosoy, Roman; Ferreira, Ricardo C.; Nordmark, Gunnel; Gunnarsson, Iva; Svenungsson, Elisabet; Padyukov, Leonid; Sturfelt, Gunnar; Jönsen, Andreas; Bengtsson, Anders A.; Rantapää-Dahlqvist, Solbritt; Baechler, Emily C.; Brown, Elizabeth E.; Alarcón, Graciela S.; Edberg, Jeffrey C.; Ramsey-Goldman, Rosalind; McGwin, Gerald; Reveille, John D.; Vilá, Luis M.; Kimberly, Robert P.; Manzi, Susan; Petri, Michelle A.; Lee, Annette; Gregersen, Peter K.; Seldin, Michael F; Rönnblom, Lars; Criswell, Lindsey A.; Syvänen, Ann Christine; Behrens, Timothy W.; Graham, Robert R.

In: Nature Genetics, Vol. 41, No. 11, 11.2009, p. 1228-1233.

Research output: Contribution to journalArticle

Gateva, V, Sandling, JK, Hom, G, Taylor, KE, Chung, SA, Sun, X, Ortmann, W, Kosoy, R, Ferreira, RC, Nordmark, G, Gunnarsson, I, Svenungsson, E, Padyukov, L, Sturfelt, G, Jönsen, A, Bengtsson, AA, Rantapää-Dahlqvist, S, Baechler, EC, Brown, EE, Alarcón, GS, Edberg, JC, Ramsey-Goldman, R, McGwin, G, Reveille, JD, Vilá, LM, Kimberly, RP, Manzi, S, Petri, MA, Lee, A, Gregersen, PK, Seldin, MF, Rönnblom, L, Criswell, LA, Syvänen, AC, Behrens, TW & Graham, RR 2009, 'A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus', Nature Genetics, vol. 41, no. 11, pp. 1228-1233. https://doi.org/10.1038/ng.468
Gateva, Vesela ; Sandling, Johanna K. ; Hom, Geoff ; Taylor, Kimberly E. ; Chung, Sharon A. ; Sun, Xin ; Ortmann, Ward ; Kosoy, Roman ; Ferreira, Ricardo C. ; Nordmark, Gunnel ; Gunnarsson, Iva ; Svenungsson, Elisabet ; Padyukov, Leonid ; Sturfelt, Gunnar ; Jönsen, Andreas ; Bengtsson, Anders A. ; Rantapää-Dahlqvist, Solbritt ; Baechler, Emily C. ; Brown, Elizabeth E. ; Alarcón, Graciela S. ; Edberg, Jeffrey C. ; Ramsey-Goldman, Rosalind ; McGwin, Gerald ; Reveille, John D. ; Vilá, Luis M. ; Kimberly, Robert P. ; Manzi, Susan ; Petri, Michelle A. ; Lee, Annette ; Gregersen, Peter K. ; Seldin, Michael F ; Rönnblom, Lars ; Criswell, Lindsey A. ; Syvänen, Ann Christine ; Behrens, Timothy W. ; Graham, Robert R. / A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. In: Nature Genetics. 2009 ; Vol. 41, No. 11. pp. 1228-1233.
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abstract = "Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P 5 × 10 8): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P 1 × 10 5. A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P 1 × 10 3) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.",
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T1 - A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

AU - Gateva, Vesela

AU - Sandling, Johanna K.

AU - Hom, Geoff

AU - Taylor, Kimberly E.

AU - Chung, Sharon A.

AU - Sun, Xin

AU - Ortmann, Ward

AU - Kosoy, Roman

AU - Ferreira, Ricardo C.

AU - Nordmark, Gunnel

AU - Gunnarsson, Iva

AU - Svenungsson, Elisabet

AU - Padyukov, Leonid

AU - Sturfelt, Gunnar

AU - Jönsen, Andreas

AU - Bengtsson, Anders A.

AU - Rantapää-Dahlqvist, Solbritt

AU - Baechler, Emily C.

AU - Brown, Elizabeth E.

AU - Alarcón, Graciela S.

AU - Edberg, Jeffrey C.

AU - Ramsey-Goldman, Rosalind

AU - McGwin, Gerald

AU - Reveille, John D.

AU - Vilá, Luis M.

AU - Kimberly, Robert P.

AU - Manzi, Susan

AU - Petri, Michelle A.

AU - Lee, Annette

AU - Gregersen, Peter K.

AU - Seldin, Michael F

AU - Rönnblom, Lars

AU - Criswell, Lindsey A.

AU - Syvänen, Ann Christine

AU - Behrens, Timothy W.

AU - Graham, Robert R.

PY - 2009/11

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