Quantitative assessment of the associations between four polymorphisms (FokI, ApaI, BsmI, TaqI) of vitamin D receptor gene and risk of diabetes mellitus

Mol Biol Rep. 2012 Oct;39(10):9405-14. doi: 10.1007/s11033-012-1805-7. Epub 2012 Jul 20.


The vitamin D receptor (VDR) gene polymorphisms have been suggested to be involved in the development of diabetes mellitus, including type 1 diabetes (T1DM) and type 2 diabetes (T2DM). However, the results have been inconsistent. In this study, we performed a meta-analysis to investigate the associations. Literature was retrieved from PubMed, ISI Web of Science and Chinese databases. Pooled odds ratios (ORs) with 95 % confidence intervals (CIs) were calculated using a random or fixed effect model. 79 studies (FokI: 22 studies; BsmI: 25 studies; ApaI: 17 studies; TaqI: 15 studies) on T1DM and 44 studies (FokI: 10 studies; BsmI: 10 studies; ApaI: 14 studies; TaqI: 10 studies) on T2DM were included. The results indicated that BsmI polymorphism was associated with an increased risk of T1DM (B vs. b: OR 1.31, 95 % CI 1.10-1.55, P = 0.002), especially in East Asians (B vs. b: OR 2.57, 95 % CI: 1.55-4.24, P < 0.001); FokI polymorphism was associated with an increased risk of T2DM (f vs. F: OR 1.30, 95 % CI: 1.17-1.45, P < 0.001), especially in East Asians (f vs. F: OR 1.36, 95 % CI: 1.21-1.54, P < 0.001). However, no significant association was observed between ApaI or TaqI polymorphism and diabetes risk with the exception of significant association between ApaI polymorphism and T1DM risk in East Asians. Thus, the authors found BsmI polymorphism in the VDR gene may increase the risk of T1DM in East Asians and the FokI polymorphism may increase the risk of T2DM in East Asians.

Publication types

  • Meta-Analysis

MeSH terms

  • Case-Control Studies
  • Deoxyribonucleases, Type II Site-Specific / chemistry
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Likelihood Functions
  • Odds Ratio
  • Polymorphism, Restriction Fragment Length
  • Receptors, Calcitriol / genetics*
  • Regression Analysis


  • Receptors, Calcitriol
  • Deoxyribonucleases, Type II Site-Specific