Gutierrez-Achury Javier, Zhernakova Alexandra, Pulit Sara L, Trynka Gosia, Hunt Karen A, Romanos Jihane, Raychaudhuri Soumya, van Heel David A, Wijmenga Cisca, de Bakker Paul I W
Department of Genetics, University Medical Center, University of Groningen, Groningen, the Netherlands.
Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
Nat Genet. 2015 Jun;47(6):577-8. doi: 10.1038/ng.3268. Epub 2015 Apr 20.
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.
尽管膳食中的麸质是乳糜泻的触发因素，但风险受到主要组织相容性复合体（MHC）区域基因变异的强烈影响。我们对MHC关联信号进行了精细定位，以识别独立于HLA - DQA1和HLA - DQB1等位基因的其他风险因素，并观察到五个新的关联，它们占遗传风险的18%。将这些新位点与57个已知的非MHC位点结合起来，基因变异现在可以解释高达48%的乳糜泻遗传度。
