CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans

CYP27B1 (25-hydroxyvitamin D 3-1α-hydroxylase) catalyzes the metabolization of 25-hydroxyvitamin D 3 to 1,25(OH) 2D 3 the most active natural Vitamin D metabolite. 1,25(OH) 2D 3 plays a role in the regulation of autoimmunity and cell proliferation and prevents the development of autoimmune diabetes...

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Bibliographic Details
Published in:Journal of steroid biochemistry and molecular biology 2004-05, Vol.89 (1-5), p.155-157
Main Authors: Lopez, Elizabeth Ramos, Regulla, Karoline, Pani, Michael A., Krause, Maren, Usadel, Klaus-H., Badenhoop, Klaus
Format: Article
Language:English
Subjects:
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics
Biological and medical sciences
Chromosomes, Human, Pair 12
CYP27B1 polymorphisms
Diabetes mellitus type 1
Diabetes Mellitus, Type 1 - enzymology
Diabetes Mellitus, Type 1 - genetics
Fundamental and applied biological sciences. Psychology
Germany
Humans
Linkage Disequilibrium
Polymorphism, Genetic
Promoter Regions, Genetic
Vertebrates: endocrinology
Vitamin D
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Summary:CYP27B1 (25-hydroxyvitamin D 3-1α-hydroxylase) catalyzes the metabolization of 25-hydroxyvitamin D 3 to 1,25(OH) 2D 3 the most active natural Vitamin D metabolite. 1,25(OH) 2D 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.
ISSN:0960-0760
1879-1220
DOI:10.1016/j.jsbmb.2004.03.095