title: Evaluation of TAP1 polymorphisms with insulin dependent diabetes mellitus in Finnish diabetic patients. The Childhood Diabetes in Finland (DiMe) Study Group.
abstract: Insulin dependent diabetes mellitus (IDDM) is an autoimmune disease with a strong association between disease and the HLA class II region. Because abnormal antigen processing, in part characterized by altered class I processing, has been identified in patients with IDDM, the TAP (transporter associated with antigen processing) genes located in the HLA class II region make attractive candidate genes for IDDM. Five coding region variants of TAP1 were typed in a cohort of well characterized Finnish patients with diabetes (n = 119) and compared to racially marched control subjects (n = 92). We found that although no single TAP1 polymorphism was associated with IDDM, a genotypic combination of Ile/Val at codon 333 with Asp/Asp at codon 637 was found more frequently in subjects with IDDM (9.4%) compared to controls (1.2%; p = 0.025). This could not be accounted for by an association with any particular haplotype defined by class I or class II serology.
authors.affiliation: Immunobiology Laboratory, Massachusetts General Hospital, Charlestown, USA.
authors.forename: L
authors.initials: L
authors.lastname: Ma
authors.forename: A
authors.initials: A
authors.lastname: Penfornis
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: D
authors.initials: D
authors.lastname: Schoenfeld
authors.forename: E
authors.initials: E
authors.lastname: Tuomilehto-Wolf
authors.forename: K
authors.initials: K
authors.lastname: Metcalfe
authors.forename: G
authors.initials: G
authors.lastname: Hitman
authors.forename: D
authors.initials: D
authors.lastname: Faustman
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011110:Polymorphism, Genetic / Q000276:immunology*
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers; D006680:HLA Antigens; C073119:TAP1 protein, human