title: Polymorphisms of transporter associated with antigen processing genes in atopic dermatitis.
abstract: We investigated polymorphisms of transporter associated with antigen process (TAP) genes in atopic dermatitis. We developed a polymerase chain reaction-restriction fragment length polymorphism method for discriminating TAP alleles. Genomic DNA was obtained from 29 Japanese patients with atopic dermatitis and 35 control subjects. Dimorphic regions of TAP1 and TAP2 genes were amplified by polymerase chain reaction. Amplified products were digested with restriction endonucleases to determine TAP alleles: Sau3A1 for TAP1 codon 333 (Ile-Val), AccI for TAP1 codon 637 (Asp-Gly), and EcoRII for TAP2 codon 687 (Gln-Stop). We observed four alleles for TAP1 and dimorphism for TAP2 codon 687. Six of 35 controls had the TAP1 D allele, which has been reported to be a rare allele in Caucasian populations. Gene frequency of TAP1 637Asp exhibited a tendency to increase in the patients with atopic dermatitis. TAP1 637Asp and TAP1 A alleles were estimated to constitute a haplotype with DRB1* 1302-DQB1*0604 and DRB1*0803-DQB1*0601 in the Japanese population. Because TAP1 and TAP2 genes are located between HLA-DQB1 and -DPB1 loci, analysis of TAP gene polymorphisms will be useful for a better understanding of susceptibility loci in HLA class II-associated disease.
authors.affiliation: Department of Transfusion Medicine and Immunohematology, Faculty of Medicine, University of Tokyo.
authors.forename: S
authors.initials: S
authors.lastname: Kuwata
authors.forename: M
authors.initials: M
authors.lastname: Yanagisawa
authors.forename: H
authors.initials: H
authors.lastname: Saeki
authors.forename: H
authors.initials: H
authors.lastname: Nakagawa
authors.forename: T
authors.initials: T
authors.lastname: Etoh
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
authors.forename: T
authors.initials: T
authors.lastname: Juji
authors.forename: Y
authors.initials: Y
authors.lastname: Shibata
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000276:immunology*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D002352:Carrier Proteins; D006680:HLA Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; C073119:TAP1 protein, human; C071692:TAP2 protein, human