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

The Journal of Steroid Biochemistry and Molecular Biology
Elizabeth Ramos LopezKlaus Badenhoop

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.

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Nov 26, 2010·Calcified Tissue International·Roderick J Clifton-BlighPhilip N Sambrook
Jul 13, 2013·Clinics and Research in Hepatology and Gastroenterology·Daniel S SmykMarco Lenzi
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Mar 19, 2014·Medicina clínica·Emilio González-Parra, Jesús Egido
Jan 16, 2007·The Journal of Steroid Biochemistry and Molecular Biology·Elizabeth Ramos-LopezKlaus Badenhoop
Apr 25, 2012·Rheumatic Diseases Clinics of North America·Tatiana TakiishiChantal Mathieu
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Jul 10, 2019·Calcified Tissue International·Stephanie R HarrisonMartin Hewison

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