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Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Almasio, Pl
•
Alvaro, D
•
Andreone, P
altro
Zuin, M.
2012
  • journal article

Periodico
HUMAN MOLECULAR GENETICS
Abstract
To further characterize the genetic basis of primary biliary cirrhosis (PBC), we genotyped 2426 PBC patients and 5731 unaffected controls from three independent cohorts using a single nucleotide polymorphism (SNP) array (Immunochip) enriched for autoimmune disease risk loci. Meta-analysis of the genotype data sets identified a novel disease-associated locus near the TNFSF11 gene at 13q14, provided evidence for association at six additional immune-related loci not previously implicated in PBC and confirmed associations at 19 of 22 established risk loci. Results of conditional analyses also provided evidence for multiple independent association signals at four risk loci, with haplotype analyses suggesting independent SNP effects at the 2q32 and 16p13 loci, but complex haplotype driven effects at the 3q25 and 6p21 loci. By imputing classical HLA alleles from this data set, four class II alleles independently contributing to the association signal from this region were identified. Imputation of genotypes at the non-HLA loci also provided additional associations, but none with stronger effects than the genotyped variants. An epistatic interaction between the IL12RB2 risk locus at 1p31and the IRF5 risk locus at 7q32 was also identified and suggests a complementary effect of these loci in predisposing to disease. These data expand the repertoire of genes with potential roles in PBC pathogenesis that need to be explored by follow-up biological studies.
DOI
10.1093/hmg/dds359
WOS
WOS:000310967900016
Archivio
http://hdl.handle.net/11368/2648311
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84869060864
http://dx.doi.org/10.1093/hmg/dds359
Diritti
metadata only access
Soggetti
  • GENOME-WIDE ASSOCIATI...

  • MULTILOCUS GENOTYPE D...

  • CLASSICAL HLA ALLELES...

  • REGULATORY T-CELLS,

  • CELIAC-DISEASE,

  • VITAMIN-D,

  • RHEUMATOID-ARTHRITIS,...

  • SUSCEPTIBILITY LOCI,

  • GENETIC RISK,

Scopus© citazioni
114
Data di acquisizione
Jun 15, 2022
Vedi dettagli
Web of Science© citazioni
116
Data di acquisizione
Mar 27, 2024
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