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

J Gutierrez-Achury, A Zhernakova, SL Pulit, G Trynka… - Nature …, 2015 - nature.com
Nature genetics, 2015nature.com
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.
Abstract
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.
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