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. 2007 Oct;56(10):2616-21.
doi: 10.2337/db07-0652. Epub 2007 Jul 2.

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

Rebecca Bailey  1 , Jason D Cooper, Lauren Zeitels, Deborah J Smyth, Jennie H M Yang, Neil M Walker, Elina Hyppönen, David B Dunger, Elizabeth Ramos-Lopez, Klaus Badenhoop, Sergey Nejentsev, John A Todd
Affiliations

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

Rebecca Bailey et al. Diabetes. 2007 Oct.

Abstract

Objective: Epidemiological studies have linked vitamin D deficiency with the susceptibility to type 1 diabetes. Higher levels of the active metabolite 1 alpha,25-dihydroxyvitamin D (1 alpha,25(OH)(2)D) could protect from immune destruction of the pancreatic beta-cells. 1 alpha,25(OH)(2)D is derived from its precursor 25-hydroxyvitamin D by the enzyme 1 alpha-hydroxylase encoded by the CYP27B1 gene and is inactivated by 24-hydroxylase encoded by the CYP24A1 gene. Our aim was to study the association between the CYP27B1 and CYP24A1 gene polymorphisms and type 1 diabetes.

Research design and methods: We studied 7,854 patients with type 1 diabetes, 8,758 control subjects from the U.K., and 2,774 affected families. We studied four CYP27B1 variants, including common polymorphisms -1260C>A (rs10877012) and +2838T>C (rs4646536) and 16 tag polymorphisms in the CYP24A1 gene.

Results: We found evidence of association with type 1 diabetes for CYP27B1 -1260 and +2838 polymorphisms, which are in perfect linkage disequilibrium. The common C allele of CYP27B1 -1260 was associated with an increased disease risk in the case-control analysis (odds ratio for the C/C genotype 1.22, P = 9.6 x 10(-4)) and in the fully independent collection of families (relative risk for the C/C genotype 1.33, P = 3.9 x 10(-3)). The combined P value for an association with type 1 diabetes was 3.8 x 10(-6). For the CYP24A1 gene, we found no evidence of association with type 1 diabetes (multilocus test, P = 0.23).

Conclusions: The present data provide evidence that common inherited variation in the vitamin D metabolism affects susceptibility to type 1 diabetes.

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References

    1. Knip M, Veijola R, Virtanen SM, Hyoty H, Vaarala O, Akerblom HK. Environmental triggers and determinants of type 1 diabetes. Diabetes. 2005;54:S125–136. - PubMed
    1. Dahlquist G, Mustonen L. Childhood onset diabetes - time trends and climatological factors. Int J Epidemiol. 1994;23:1234–1241. - PubMed
    1. Baumgartl HJ, Standl E, Schmidt-Gayk H, Kolb HJ, Janka HU, Ziegler AG. Changes of vitamin D3 serum concentrations at the onset of immune-mediated type 1 (insulin-dependent) diabetes mellitus. Diabetes Res. 1991;16:145–148. - PubMed
    1. Pozzilli P, Manfrini S, Crino A, Picardi A, Leomanni C, Cherubini V, Valente L, Khazrai M, Visalli N. Low levels of 25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 in patients with newly diagnosed type 1 diabetes. Horm Metab Res. 2005;37:680–683. - PubMed
    1. Littorin B, Blom P, Scholin A, Arnqvist HJ, Blohme G, Bolinder J, Ekbom Schnell A, Eriksson JW, Gudbjornsdottir S, Nystrom L, Ostman J, Sundkvist G. Lower levels of plasma 25-hydroxyvitamin D among young adults at diagnosis of autoimmune type 1 diabetes compared with control subjects: results from the nationwide Diabetes Incidence Study in Sweden (DISS) Diabetologia. 2006;49:2847–2852. - PubMed

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