title: Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients.
abstract: We sought to determine whether transporter associated with antigen processing (TAP) gene polymorphism is associated with susceptibility to systemic sclerosis (SSc). TAP1 and TAP2 gene polymorphisms were analyzed in 61 Korean patients with SSc and 100 ethnically matched healthy Koreans by polymerase chain reaction-restriction fragment length polymorphism. Human leukocyte antigen (HLA)-DRB1 genotyping data of the patients from our previous study was used for the assessment of independent role of TAP genes to SSc susceptibility. Patients were stratified according to anti-topoisomerase I (anti-topo I) antibody status and clinical subsets of diffuse and limited cutaneous SSc (dcSSc and lcSSc). TAP1 and TAP2 gene polymorphisms were associated with different subsets of SSc: TAP1*A/A genotype with anti-topo I-positive dcSSc (p = 0.01, p corrected = 0.04), TAP2*A1/C genotype with anti-topo I-positive lcSSc (p < 0.05), TAP2*Bky2 and *C alleles with anti-topo I-negative dcSSc (both p < 0.05), and TAP2*B/E genotype with anti-topo I-negative lcSSc (p = 0.004). Although TAP gene associations were generally weak, some associations (TAP2*A1/C, TAP2*C, and TAP2*B/E) with different subsets of SSc were independent of HLA-DR associations, revealing even stronger associations (TAP2*A1/C and TAP2*C) among individuals not possessing the risk HLA-DR alleles. These results suggest the possible role of TAP gene polymorphisms in the genetic susceptibility to SSc.
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul, Korea.
authors.forename: Yeong Wook
authors.initials: YW
authors.lastname: Song
authors.forename: Eun Bong
authors.initials: EB
authors.lastname: Lee
authors.forename: Dong Hee
authors.initials: DH
authors.lastname: Whang
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Kang
authors.forename: Fujio
authors.initials: F
authors.lastname: Takeuchi
authors.forename: Myoung Hee
authors.initials: MH
authors.lastname: Park
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 / Q000235:genetics*; D000328:Adult; D000368:Aged; D000906:Antibodies / Q000276:immunology; D004264:DNA Topoisomerases, Type I / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D017412:Ribonucleoprotein, U1 Small Nuclear / Q000276:immunology; D045743:Scleroderma, Diffuse / Q000235:genetics; D045745:Scleroderma, Limited / Q000235:genetics; D012595:Scleroderma, Systemic / Q000235:genetics*
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; D000906:Antibodies; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D017412:Ribonucleoprotein, U1 Small Nuclear; C073119:TAP1 protein, human; C071692:TAP2 protein, human; D004264:DNA Topoisomerases, Type I