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American Journal of Epidemiology Advance Access originally published online on August 11, 2006
American Journal of Epidemiology 2006 164(8):711-724; doi:10.1093/aje/kwj278
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American Journal of Epidemiology Copyright © 2006 by the Johns Hopkins Bloomberg School of Public Health All rights reserved; printed in U.S.A.

Human Genome Epidemiology (HuGE) Review

Meta-Analysis of Vitamin D Receptor Polymorphisms and Type 1 Diabetes: A HuGE Review of Genetic Association Studies

Sun-Wei Guo, Victoria L. Magnuson, Jennifer J. Schiller, Xujing Wang, Yan Wu and Soumitra Ghosh

From the Department of Pediatrics and the Max McGee Research Center for Juvenile Diabetes, Medical College of Wisconsin, Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI

Correspondence to Dr. Sun-Wei Guo, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, MS 756, Milwaukee, WI 53226-0509 (e-mail: swguo{at}mcw.edu).

Several polymorphisms in the vitamin D receptor (VDR) gene have been reported to be associated with the risk of developing type 1 diabetes, yet published findings have been conflicting. In this study, the authors attempted to evaluate the evidence regarding the association. They searched all relevant reports from original papers published from 1997 to December 2005. Predefined criteria were used to identify 1) case-control association studies examining the FokI (11 studies), BsmI (13 studies), ApaI (9 studies), and TaqI (7 studies) polymorphisms and 2) a few family-transmission studies with analysis of these four polymorphisms. In random-effects modeling, the 95% confidence intervals of the summary odds ratios for all four polymorphisms included 1, indicating no effect. Except for FokI, no heterogeneity was found. The 95% confidence intervals of the transmission proportions all included 0.5, indicating no effect. Thus, the authors found no evidence for an association between VDR gene polymorphisms and type 1 diabetes risk in either case-control studies or family-transmission studies. In fact, a reanalysis of previously published data (McDermott et al., Diabetologia 1997;40:971–5) indicated no evidence of an association as reported.

association; diabetes mellitus, type 1; epidemiology; genetics; meta-analysis; polymorphism, genetic; receptors, calcitriol; VDR


Abbreviations: CI, confidence interval; SNP, single nucleotide polymorphism; VDR, vitamin D receptor


Editor's note: This article is also available on the website of the Human Genome Epidemiology Network (http://www.cdc.gov/genomics/hugenet/).


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