Vitamin d and type 1 diabetes risk: A systematic review and meta-analysis of genetic evidence

Liana Najjar, Joshua Sutherland, Ang Zhou, Elina Hyppönen

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10 Citations (Scopus)


Several observational studies have examined vitamin D pathway polymorphisms and their association with type 1 diabetes (T1D) susceptibility, with inconclusive results. We aimed to perform a systematic review and meta-analysis assessing associations between selected variants affecting 25-hydroxyvitamin D [25(OH)D] and T1D risk. We conducted a systematic search of Medline, Embase, Web of Science and OpenGWAS updated in April 2021. The following keywords “vitamin D” and/or single nucleotide polymorphisms (SNPs)” and “T1D” were selected to identify relevant articles. Seven SNPs (or their proxies) in six genes were analysed: CYP2R1 rs10741657, CYP2R1 (low frequency) rs117913124, DHCR7/NADSYN1 rs12785878, GC rs3755967, CYP24A1 rs17216707, AMDHD1 rs10745742 and SEC23A rs8018720. Seven case-control and three cohort studies were eligible for quantitative synthesis (n = 10). Meta-analysis results suggested no association with T1D (range of pooled ORs for all SNPs: 0.97–1.02; p > 0.01). Heterogeneity was found in DHCR7/NADSYN1 rs12785878 (I2: 64.8%, p = 0.02). Sensitivity analysis showed exclusion of any single study did not alter the overall pooled effect. No association with T1D was observed among a Caucasian subgroup. In conclusion, the evidence from the meta-analysis indicates a null association between selected variants affecting serum 25(OH)D concentrations and T1D.

Original languageEnglish
Article number4260
Issue number12
Publication statusPublished or Issued - Dec 2021


  • 25-hydroxyvitamin D
  • CYP2R1
  • Diabetes mellitus
  • Meta-analysis
  • Polymorphism
  • Single nucleotide
  • Type 1
  • Vitamin D

ASJC Scopus subject areas

  • Food Science
  • Nutrition and Dietetics

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