TNF-α polymorphisms in primary biliary cirrhosis: A Northern and Southern Italian experience

Grazia Anna Niro, Francesca Poli, Angelo Andriulli, Ilaria Bianchi, Francesca Bernuzzi, Lisa Caliari, Rosanna Fontana, Domenica Gioffreda, Maria Rosa Valvano, Mauro Podda, Pietro Invernizzi

Research output: Chapter in Book/Report/Conference proceedingConference contribution

12 Citations (Scopus)

Abstract

Specific HLA alleles and immunoregulatory genes have been evaluated in primary biliary cirrhosis (PBC), but data are discordant. We determined whether TNF-α promoter polymorphisms (G-308A and G-238A) and alleles of HLA class II (HLA-DRB1) might be associated either with PBC occurrence and severity in Italian populations from two distinct areas. The distribution of TNF1 (G/G) genotype did not differ either between patients and controls or between patients from Northern and Southern Italy. Contrariwise, the HLA-DRB1*08 appeared positively linked to the occurrence of disease (8.4% in patients vs. 2.5% in controls, P = 0.003), whereas the HLA-DRB1*13 appeared to be protective, being more frequent in controls (12.8%) than in patients (7%) (P = 0.038). Neither positively nor negatively associated alleles of the two genomic loci had an effect on disease progression. We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles.

Original languageEnglish (US)
Title of host publicationAnnals of the New York Academy of Sciences
Pages557-563
Number of pages7
Volume1173
DOIs
StatePublished - Sep 2009
Externally publishedYes

Publication series

NameAnnals of the New York Academy of Sciences
Volume1173
ISSN (Print)00778923
ISSN (Electronic)17496632

Fingerprint

HLA-DRB1 Chains
Biliary Liver Cirrhosis
Polymorphism
Alleles
Genes
Italy
Population
Disease Progression
Genotype

Keywords

  • Alleles
  • HLA-DRB1
  • Liver disease progression
  • Primary biliary cirrhosis
  • TNF- α alleles and genotypes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Niro, G. A., Poli, F., Andriulli, A., Bianchi, I., Bernuzzi, F., Caliari, L., ... Invernizzi, P. (2009). TNF-α polymorphisms in primary biliary cirrhosis: A Northern and Southern Italian experience. In Annals of the New York Academy of Sciences (Vol. 1173, pp. 557-563). (Annals of the New York Academy of Sciences; Vol. 1173). https://doi.org/10.1111/j.1749-6632.2009.04741.x

TNF-α polymorphisms in primary biliary cirrhosis : A Northern and Southern Italian experience. / Niro, Grazia Anna; Poli, Francesca; Andriulli, Angelo; Bianchi, Ilaria; Bernuzzi, Francesca; Caliari, Lisa; Fontana, Rosanna; Gioffreda, Domenica; Valvano, Maria Rosa; Podda, Mauro; Invernizzi, Pietro.

Annals of the New York Academy of Sciences. Vol. 1173 2009. p. 557-563 (Annals of the New York Academy of Sciences; Vol. 1173).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Niro, GA, Poli, F, Andriulli, A, Bianchi, I, Bernuzzi, F, Caliari, L, Fontana, R, Gioffreda, D, Valvano, MR, Podda, M & Invernizzi, P 2009, TNF-α polymorphisms in primary biliary cirrhosis: A Northern and Southern Italian experience. in Annals of the New York Academy of Sciences. vol. 1173, Annals of the New York Academy of Sciences, vol. 1173, pp. 557-563. https://doi.org/10.1111/j.1749-6632.2009.04741.x
Niro GA, Poli F, Andriulli A, Bianchi I, Bernuzzi F, Caliari L et al. TNF-α polymorphisms in primary biliary cirrhosis: A Northern and Southern Italian experience. In Annals of the New York Academy of Sciences. Vol. 1173. 2009. p. 557-563. (Annals of the New York Academy of Sciences). https://doi.org/10.1111/j.1749-6632.2009.04741.x
Niro, Grazia Anna ; Poli, Francesca ; Andriulli, Angelo ; Bianchi, Ilaria ; Bernuzzi, Francesca ; Caliari, Lisa ; Fontana, Rosanna ; Gioffreda, Domenica ; Valvano, Maria Rosa ; Podda, Mauro ; Invernizzi, Pietro. / TNF-α polymorphisms in primary biliary cirrhosis : A Northern and Southern Italian experience. Annals of the New York Academy of Sciences. Vol. 1173 2009. pp. 557-563 (Annals of the New York Academy of Sciences).
@inproceedings{729bfcb3918f4c369ed1baa9cb905892,
title = "TNF-α polymorphisms in primary biliary cirrhosis: A Northern and Southern Italian experience",
abstract = "Specific HLA alleles and immunoregulatory genes have been evaluated in primary biliary cirrhosis (PBC), but data are discordant. We determined whether TNF-α promoter polymorphisms (G-308A and G-238A) and alleles of HLA class II (HLA-DRB1) might be associated either with PBC occurrence and severity in Italian populations from two distinct areas. The distribution of TNF1 (G/G) genotype did not differ either between patients and controls or between patients from Northern and Southern Italy. Contrariwise, the HLA-DRB1*08 appeared positively linked to the occurrence of disease (8.4{\%} in patients vs. 2.5{\%} in controls, P = 0.003), whereas the HLA-DRB1*13 appeared to be protective, being more frequent in controls (12.8{\%}) than in patients (7{\%}) (P = 0.038). Neither positively nor negatively associated alleles of the two genomic loci had an effect on disease progression. We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles.",
keywords = "Alleles, HLA-DRB1, Liver disease progression, Primary biliary cirrhosis, TNF- α alleles and genotypes",
author = "Niro, {Grazia Anna} and Francesca Poli and Angelo Andriulli and Ilaria Bianchi and Francesca Bernuzzi and Lisa Caliari and Rosanna Fontana and Domenica Gioffreda and Valvano, {Maria Rosa} and Mauro Podda and Pietro Invernizzi",
year = "2009",
month = "9",
doi = "10.1111/j.1749-6632.2009.04741.x",
language = "English (US)",
isbn = "9781573317627",
volume = "1173",
series = "Annals of the New York Academy of Sciences",
pages = "557--563",
booktitle = "Annals of the New York Academy of Sciences",

}

TY - GEN

T1 - TNF-α polymorphisms in primary biliary cirrhosis

T2 - A Northern and Southern Italian experience

AU - Niro, Grazia Anna

AU - Poli, Francesca

AU - Andriulli, Angelo

AU - Bianchi, Ilaria

AU - Bernuzzi, Francesca

AU - Caliari, Lisa

AU - Fontana, Rosanna

AU - Gioffreda, Domenica

AU - Valvano, Maria Rosa

AU - Podda, Mauro

AU - Invernizzi, Pietro

PY - 2009/9

Y1 - 2009/9

N2 - Specific HLA alleles and immunoregulatory genes have been evaluated in primary biliary cirrhosis (PBC), but data are discordant. We determined whether TNF-α promoter polymorphisms (G-308A and G-238A) and alleles of HLA class II (HLA-DRB1) might be associated either with PBC occurrence and severity in Italian populations from two distinct areas. The distribution of TNF1 (G/G) genotype did not differ either between patients and controls or between patients from Northern and Southern Italy. Contrariwise, the HLA-DRB1*08 appeared positively linked to the occurrence of disease (8.4% in patients vs. 2.5% in controls, P = 0.003), whereas the HLA-DRB1*13 appeared to be protective, being more frequent in controls (12.8%) than in patients (7%) (P = 0.038). Neither positively nor negatively associated alleles of the two genomic loci had an effect on disease progression. We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles.

AB - Specific HLA alleles and immunoregulatory genes have been evaluated in primary biliary cirrhosis (PBC), but data are discordant. We determined whether TNF-α promoter polymorphisms (G-308A and G-238A) and alleles of HLA class II (HLA-DRB1) might be associated either with PBC occurrence and severity in Italian populations from two distinct areas. The distribution of TNF1 (G/G) genotype did not differ either between patients and controls or between patients from Northern and Southern Italy. Contrariwise, the HLA-DRB1*08 appeared positively linked to the occurrence of disease (8.4% in patients vs. 2.5% in controls, P = 0.003), whereas the HLA-DRB1*13 appeared to be protective, being more frequent in controls (12.8%) than in patients (7%) (P = 0.038). Neither positively nor negatively associated alleles of the two genomic loci had an effect on disease progression. We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles.

KW - Alleles

KW - HLA-DRB1

KW - Liver disease progression

KW - Primary biliary cirrhosis

KW - TNF- α alleles and genotypes

UR - http://www.scopus.com/inward/record.url?scp=69949166187&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=69949166187&partnerID=8YFLogxK

U2 - 10.1111/j.1749-6632.2009.04741.x

DO - 10.1111/j.1749-6632.2009.04741.x

M3 - Conference contribution

C2 - 19758199

AN - SCOPUS:69949166187

SN - 9781573317627

VL - 1173

T3 - Annals of the New York Academy of Sciences

SP - 557

EP - 563

BT - Annals of the New York Academy of Sciences

ER -