title: No evidence of a functionally significant polymorphism of the BCL2 gene in Danish, Finnish and Basque type 1 diabetes families.
abstract: Accumulating evidence has suggested a role for the anti-apoptotic protein BCL2 in the development of autoimmune diseases, including type 1 diabetes mellitus (T1DM). Recently, the first BCL2 polymorphism (Ala43Thr) with association to T1DM in a Japanese population was reported. The polymorphism was found significantly more frequent in control individuals (14.5%) than in T1DM patients (6.8%), and was furthermore found to be functionally relevant, promoting a increased sensitivity to apoptosis when overexpressed in an IL-7 dependent mouse pre-B cell line. To investigate the relevance of the polymorphism in Caucasians, we have genotyped nearly 1400 individuals comprising Danish, Finnish and Basque T1DM family materials, using a PCR-based RFLP assay. In contrast to what was observed in Japanese diabetic/control individuals, we find no evidence for association of the BCL2 Ala43Thr polymorphism to T1DM in Danish, Finnish and Basque Type 1 diabetes families.
authors.affiliation: Steno Diabetes Center, Niels Steensensvej 2, 2820 Gentofte, Denmark.
authors.forename: P E
authors.initials: PE
authors.lastname: Heding
authors.forename: A E
authors.initials: AE
authors.lastname: Karlsen
authors.forename: R
authors.initials: R
authors.lastname: Veijola
authors.forename: J
authors.initials: J
authors.lastname: Nerup
authors.forename: F
authors.initials: F
authors.lastname: Pociot
mesh_terms: D017209:Apoptosis; D003718:Denmark / Q000453:epidemiology; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005387:Finland / Q000453:epidemiology; D019254:Genes, bcl-2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain / Q000453:epidemiology