title: Contribution of HLA class II genes to susceptibility in achalasia.
abstract: 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-DQA1*0101 and two HLA-DQ alphabeta heterodimers having their alpha chain encoded by this allele. Moreover, relative risk was significantly higher in DQA1*0101 homozygotes as compared to heterozygotes and results suggested that DQB1*02 may have a protective role.
authors.affiliation: Department of Immunology, San Carlos University Hospital, Madrid, Spain. egconcha@mail.ddnet.es
authors.forename: E G
authors.initials: EG
authors.lastname: De la Concha
authors.forename: M
authors.initials: M
authors.lastname: Fernandez-Arquero
authors.forename: J L
authors.initials: JL
authors.lastname: Mendoza
authors.forename: L
authors.initials: L
authors.lastname: Conejero
authors.forename: M A
authors.initials: MA
authors.lastname: Figueredo
authors.forename: J
authors.initials: J
authors.lastname: Perez de la Serna
authors.forename: M
authors.initials: M
authors.lastname: Diaz-Rubio
authors.forename: A
authors.initials: A
authors.lastname: Ruiz de Leon
mesh_terms: D000483:Alleles; D019281:Dimerization; D004931:Esophageal Achalasia / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005802:Genes, MHC Class II / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D013030:Spain / Q000453:epidemiology
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C051568:HLA-DQ1 antigen; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; C057615:HLA-DQbeta antigen; D006684:HLA-DR Antigens