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

被引：32

作者：

Lopez, ER ^{[1
]}

Regulla, K ^{[1
]}

Pani, MA ^{[1
]}

Krause, M ^{[1
]}

Usadel, KH ^{[1
]}

Badenhoop, K ^{[1
]}

机构：

[1] Univ Hosp Frankfurt, Dept Internal Med 1, Div Endocrinol, D-60596 Frankfurt, Germany

来源：

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY | 2004年 / 89-90卷 / 1-5期

关键词：

diabetes mellitus type 1; vitamin D; CYP27B1; polymorphisms;

D O I：

10.1016/j.jsbmb.2004.03.095

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

CYP27B1 (25-hydroxyvitamin D(3)-Ialpha-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 type 1 diabetes 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. (C) 2004 Elsevier Ltd. All rights reserved.

引用

页码：155 / 157

页数：3

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