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Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

2015; Nature Portfolio; Volume: 47; Issue: 6 Linguagem: Inglês

10.1038/ng.3268

1546-1718

Javier Gutierrez‐Achury, Alexandra Zhernakova, Sara L. Pulit, Gosia Trynka, Karen A. Hunt, Jihane Romanos, Soumya Raychaudhuri, David A. van Heel, Cisca Wijmenga, Paul I. W. de Bakker,

Microscopic Colitis

Cisca Wijmenga and colleagues report fine mapping of the association signal in the MHC region in individuals with celiac disease. They identify five additional risk factors that are independent of HLA-DQ alleles and that account for 18% of the genetic risk for this disease. Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associations that account for 18% of the genetic risk. Taking these new loci together with the 57 known non-MHC loci, genetic variation can now explain up to 48% of celiac disease heritability.