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Genetic vitamin D deficiency


By Li Dali, Ph.D.

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Vitamin D plays a vital role in maintaining musculoskeletal health. Recent studies have linked vitamin D insufficiency to various extraskeletal disorders such as diabetes, cancer, and cardiovascular disease. While sun exposure and dietary intake are primary determinants of circulating 25-hydroxyvitamin D (25-OH D), its high heritability suggests genetic factors may also contribute.

Variations in two genes, GC and VDR, are associated with lower vitamin D levels. The GC gene produces the primary transporter of vitamin D in circulation, while the VDR gene produces the vitamin D receptor, enabling the body to respond effectively to vitamin D. Individuals carrying specific types of GC and VDR genes may need to ensure adequate sun exposure or dietary intake of vitamin D to prevent deficiency compared to others.

Curious about your VDR and GC gene types? Our Tendna health report can provide insights into the versions of these genes present in your DNA. Additionally, you can learn how your genes might influence various traits, including your susceptibility to certain diseases.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin D and see a list of existing studies.

SNP polymorphisms related to the topic Vitamin D:

rs731236Vitamin D receptor gene polymorphism. Increases the risk of breast and lung cancer, melanoma, type 2 diabetes mellitus.
rs7041Vitamin D binding protein genotype and osteoporosis. Associated with decreased 25-hydroxyvitamin D concentrations. A study of smokers found that vitamin D levels were reduced by 25% with this breakdown and 2 times the risk of chronic obstructive pulmonary disease. Also associated with metabolic syndrome and lower levels of 25-hydroxyvitamin D in polycystic ovary syndrome.
rs2060793This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to the active ligand of the vitamin D receptor.
rs1155563Increases the likelihood of chronic obstructive pulmonary disease. Affects decreased vitamin D levels in children.
rs12785878Has been associated with serum vitamin D concentrations in several studies. The T risk allele is associated with greater reductions in insulin and HOMA-IR levels in response to a high-protein diet.
rs1544410BsmI polymorphism, is a SNP in the vitamin D receptor (VDR). Associated with decreased bone mineral density and increased risk of fractures. Increases predisposition to stunting. Increases the likelihood of obesity and osteoporosis.
rs1491710Association between vitamin D intake and serum 25-hydroxyvitamin D levels.
rs222016Associated with vitamin D, serum vitamin D concentration.
rs4588Associated with lower vitamin D levels and therefore potential vitamin D deficiency. Increases vitamin D deficiency among pregnant women and the likelihood of gestational diabetes.
rs2282679Associated with lower vitamin D levels and therefore potential vitamin D deficiency. Increases vitamin D deficiency among pregnant women and the likelihood of gestational diabetes.
rs10741657Associated with increased 25(OH)D levels in a study of vitamin D levels and multiple sclerosis risk.Also associated with predisposition to type 1 diabetes and vitamin D levels. Increases the risk of gestational diabetes mellitus.
rs705117Associated with fasting serum vitamin D binding protein levels.
rs3829251Associated with 25-hydroxyvitamin D levels.

About The Author
Li Dali Li Dali

Li Dali, a National Foundation for Outstanding Youth Fund recipient, is a researcher at the School of Life Sciences in East China Normal University. He earned his PhD in genetics from Hunan Normal University in 2007 and conducted collaborative research at Texas A&M University during his doctoral studies. Li Dali and his team have optimized and innovated gene editing technology, leading to the establishment of a world-class system for constructing gene editing disease models.

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