title: Analysis of cytotoxic T lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism in patients with type 1 diabetes mellitus in a Turkish population.
abstract: Recent studies have described linkage and association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and type 1 diabetes mellitus (DM1) in some ethnic populations, but not others. This finding suggests that CTLA-4 gene association with DM1 may be influenced by the racial composition of the population. Thus, it is important to study the polymorphism of the CTLA-4 gene in different ethnic groups. In this case-control association study, the CTLA-4 gene exon 1 A/G polymorphism was analyzed in 48 children with DM1 and 80 healthy controls using polymerase chain reaction-restriction fragment length polymorphism analysis. The possible interaction of the CTLA-4 gene polymorphism with the presence of established genetic markers (HLA-DR genotyping) was also evaluated in 29 patients. The results of the present study do not suggest an association of the known polymorphism in exon 1 of the CTLA-4 gene with DM1 in this Turkish population, and G-allele containing CTLA-4 genotypes were not preferentially associated with age at clinical presentation or with presence of other genetic (HLA-DR3 or -DR4) markers of DM1.
authors.affiliation: Department of Medical Biology and Genetics, Dokuz Eylul University Medical School, Izmir, Turkey. sermingenc@hotmail.com
authors.forename: Sermin
authors.initials: S
authors.lastname: Genc
authors.forename: Kursad
authors.initials: K
authors.lastname: Genc
authors.forename: Ogun
authors.initials: O
authors.lastname: Sercan
authors.forename: Sefa
authors.initials: S
authors.lastname: Kizildag
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Gulay
authors.forename: Tuba
authors.initials: T
authors.lastname: Atay
authors.forename: Bumin
authors.initials: B
authors.lastname: Dundar
authors.forename: Meral
authors.initials: M
authors.lastname: Sakizli
authors.forename: Atilla
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D000293:Adolescent; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006684:HLA-DR Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D014421:Turkey / Q000453:epidemiology
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D006684:HLA-DR Antigens