Vitamin D receptor variants linked to increased risk of chronic diseases

According to a new US study, people with certain gene variations involved in vitamin D metabolism may be particularly susceptible to the potential adverse health effects of low blood vitamin D concentrations.

The researchers analyzed genetic variations in 304 study participants (mean age of 74) with low vitamin D blood levels and 1,210 participants with normal vitamin D concentrations. They looked at the potential effects of these genetic variations on the development of chronic diseases and death by taking measurements of serum vitamin D levels and following up after 11 years (1). The study results showed that participants with low vitamin D levels had a 32% greater risk of hip fracture, myocardial infarction, cancer, and death. Among those with low serum 25(OH)D levels, the presence of a certain variation (polymorphism) of the gene coding for the vitamin D receptor was associated with a 40% greater risk of potentially fatal clinical outcomes. The presence of two gene variations was even linked with an 82% greater risk. Without accounting for vitamin D concentrations, no association between the polymorphisms and disease risk was found.

The researchers concluded that people with specific vitamin D metabolism-related gene variants may be particularly susceptible to, or protected from, the potential adverse health effects of low vitamin D blood concentrations. Further studies are needed to explore why such variations affect 25(OH)D concentrations Long-term measurements of 25(OH)D levels in other study populations may show if the findings can be generalized.

1. Levin G. P. et al. Genetic variants and associations of 25-hydroxyvitamin D concentrations with major clinical outcomes. JAMA. 2012; 308:1898–1905.