title: CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans.
abstract: CYP27B1 (25-hydroxyvitamin D(3)-1alpha-hydroxylase) catalyzes the metabolization of 25-hydroxyvitamin D(3) to 1,25(OH)(2)D(3) the most active natural Vitamin D metabolite. 1,25(OH)(2)D(3) plays a role in the regulation of autoimmunity and cell proliferation and prevents the development of autoimmune diabetes mellitus in animal models besides other autoimmune disorders. One hundred and eighty-seven families with one offspring affected with type1diabetes mellitus were genotyped for the polymorphisms in the promoter region (-1260 C/A) and intron 6 (2338 T/C) of the CYP27B1 gene on chromosome 12 q13.1-13.3 and extended transmission disequilibrium tests (ETDT) were performed. The haplotype CT (-1260 A/2338 T) was significantly more often transmitted to affected offspring (96 transmitted (T) versus 63 not transmitted (NT), P = 0.0089). While the AT (-1260 C/2838 T) was significantly less often transmitted (37 T versus 60 NT, P = 0.0195). This study suggests that CYP27B1 haplotypes may confer susceptibility to type 1 diabetes mellitus in Germans.
authors.affiliation: Department of Internal Medicine I, Division of Endocrinology, University Hospital Frankfurt, Theodor Stern Kai 7, Frankfurt am Main 60596, Germany.
authors.forename: Elizabeth Ramos
authors.initials: ER
authors.lastname: Lopez
authors.forename: Karoline
authors.initials: K
authors.lastname: Regulla
authors.forename: Michael A
authors.initials: MA
authors.lastname: Pani
authors.forename: Maren
authors.initials: M
authors.lastname: Krause
authors.forename: Klaus-H
authors.initials: KH
authors.lastname: Usadel
authors.forename: Klaus
authors.initials: K
authors.lastname: Badenhoop
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology / Q000235:genetics*; D005858:Germany; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase