A genetic association study of 1,068 cases and 4,242 controls has revealed that an insertion of eight residues in HLA-DQβ1 (at position 227–234) and amino acid substitutions in HLA-DQα1 (at position 41) and HLA-DQβ1 (at position 45) all confer a risk of achalasia. Given the strength of the MHC association signal, the authors suggest there is a role for immune-mediated processes in the development of idiopathic achalasia.
References
Gockel, I. et al. Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia. Nat. Genet. doi:10.1038/ng.3029
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HLA-DQ variants implicate immune-mediated processes in the pathophysiology of idiopathic achalasia. Nat Rev Gastroenterol Hepatol 11, 516 (2014). https://doi.org/10.1038/nrgastro.2014.139
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DOI: https://doi.org/10.1038/nrgastro.2014.139
