First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.

6 Using Illumina Immunochip, which targets a small subset of loci in the human genome that are relevant for immune-mediated diseases, we recently discovered a highly significant IA-associated risk variant that leads to an 8-amino acid insertion in the cytoplasmic tail of HLA-DQβ1. 7 Although the functional impact of this insertion on antigen presentation still needs to be investigated, our observation could explain why patients with IA develop an aberrant immune response to a viral infection, including HSV-1.

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