Dataset Information

Italian Primary Biliary Cirrhosis Study

ABSTRACT:

A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and identified novel associations with IKZF3/ORMDL3 on chromosome 17, SPIB on chromosome 19, and IRF5 on chromosome. These studies also provided definition of haplotypic associations, differences between the PBC associated chromosome 17 haplotype and that of pediatric asthma and suggested several other genes as candidates for PBC susceptibility including DENND1B.

PROVIDER: phs000444.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

Liu Xiangdong X Invernizzi Pietro P Lu Yue Y Kosoy Roman R Lu Yan Y Bianchi Ilaria I Podda Mauro M Xu Chun C Xie Gang G Macciardi Fabio F Selmi Carlo C Lupoli Sara S Shigeta Russell R Ransom Michael M Lleo Ana A Lee Annette T AT Mason Andrew L AL Myers Robert P RP Peltekian Kevork M KM Ghent Cameron N CN Bernuzzi Francesca F Zuin Massimo M Rosina Floriano F Borghesio Elisabetta E Floreani Annarosa A Lazzari Roberta R Niro Grazia G Andriulli Angelo A Muratori Luigi L Muratori Paolo P Almasio Piero L PL Andreone Pietro P Margotti Marzia M Brunetto Maurizia M Coco Barbara B Alvaro Domenico D Bragazzi Maria C MC Marra Fabio F Pisano Alessandro A Rigamonti Cristina C Colombo Massimo M Marzioni Marco M Benedetti Antonio A Fabris Luca L Strazzabosco Mario M Portincasa Piero P Palmieri Vincenzo O VO Tiribelli Claudio C Croce Lory L Bruno Savino S Rossi Sonia S Vinci Maria M Prisco Cleofe C Mattalia Alberto A Toniutto Pierluigi P Picciotto Antonio A Galli Andrea A Ferrari Carlo C Ferrari Carlo C Colombo Silvia S Casella Giovanni G Morini Lorenzo L Caporaso Nicola N Colli Agostino A Spinzi Giancarlo G Montanari Renzo R Gregersen Peter K PK Heathcote E Jenny EJ Hirschfield Gideon M GM Siminovitch Katherine A KA Amos Christopher I CI Gershwin M Eric ME Seldin Michael F MF

Nature genetics 20100718 8

A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 x 10(-10), OR = 1.63) and 17q12-21 (P = 1.7 x 10(-10), OR = 1.38). ...[more]

PMID: 20639880

Dataset Information

Italian Primary Biliary Cirrhosis Study

Publications

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

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