Contribution of HLA class II genes to susceptibility in achalasia

• Published in: Tissue antigens Vol. 52; no. 4; pp. 381 - 384
• Main Authors: De la Concha, E.G., Fernandez-Arquero, M., Mendoza, J.L., Conejero, L., Figueredo, M.A., de la Sema, J. Perez, Diaz-Rubio, M., de Leon, A. Ruiz
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-10-1998
• Subjects: achalasia; Alleles; Dimerization; DQA1; DQB1; Esophageal Achalasia - epidemiology; Esophageal Achalasia - genetics; gene association; Gene Frequency; Genes, MHC Class II - genetics; Genetic Predisposition to Disease - genetics; Haplotypes; Heterozygote; HLA homozygosity; HLA-DQ alpha-Chains; HLA-DQ Antigens - genetics; HLA-DQ beta-Chains; HLA-DR Antigens - genetics; Homozygote; Humans; Spain - epidemiology; Spain
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1111/j.1399-0039.1998.tb03059.x

: Achalasia is a motor disorder of the esophagus resulting in functional obstruction. The cause of the lesion is unknown although genetic and immunologic factors have been suggested. An association with serological HLA epitopes has been previously reported. In this study, we have further examined this HLA class II association with susceptibility to achalasia by DNA based methods. Achalasia patients (n=40) and healthy controls (n= 275), all Caucasians and unrelated, were included in the analysis. The strongest associations were with HLA‐DQAl*0101 and two HLA‐DQαβ heterodimers having their a chain encoded by this allele. Moreover, relative risk was significantly higher in DQAl*0101 homozygotes as compared to heterozygotes and results suggested that DQB1*02 may have a protective role.