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Polymorphisms in the vitamin D system and mortality - The Tromsø study
Rolf Jorde1, Tom Wilsgaard2, Guri Grimnes1
1Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.
The Journal of Steroid Biochemistry and Molecular Biology
|September 22, 2019
Summary
This study used genetic data to investigate the causal link between vitamin D levels and mortality. Findings suggest a weak but probable causal relationship, with higher vitamin D levels associated with lower mortality risk.
Area of Science:
- Genetics
- Epidemiology
- Endocrinology
Background:
- Vitamin D deficiency is linked to various chronic diseases and increased mortality.
- Establishing a causal relationship between vitamin D and health outcomes has been challenging.
- Mendelian randomization offers a method to infer causality, complementing traditional trials.
Purpose of the Study:
- To investigate the causal relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and mortality.
- To analyze genetic variants (SNPs) associated with vitamin D synthesis and metabolism in relation to mortality.
- To update previous findings with a larger sample size, longer observation time, and new genetic data.
Main Methods:
- Genotyping of SNPs in vitamin D-related genes (NADSYN1, CYP2R1, GC, CYP24A1, VDR, CUBILIN, MEGALIN) in 11,897 participants.
- Measurement of serum 25(OH)D levels in 6,733 participants.
- Creation of genetic scores for vitamin D synthesis and metabolism, and analysis of serum 25(OH)D percentile groups.
- Survival analysis using Cox regression with mortality data updated until March 2017.
Main Results:
- The vitamin D synthesis genetic score and serum 25(OH)D percentile groups showed a significant association with mortality, favoring higher vitamin D levels.
- No significant association was found between SNPs in VDR or MEGALIN genes and mortality.
- A potential association was observed for the CUBILIN gene SNP rs12766939 with increased mortality risk (HR 1.17), though this requires cautious interpretation due to Hardy-Weinberg disequilibrium.
Conclusions:
- The study provides evidence for a probable, albeit weak, causal relationship between serum 25(OH)D levels and mortality.
- Higher vitamin D levels appear to be associated with reduced mortality risk.
- Further validation of the rs12766939 association in more homogeneous cohorts is warranted.
