Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status

Area of Science:

• Genetics
• Endocrinology
• Nutritional Science

Background:

• Vitamin D is crucial for numerous physiological processes.
• Genetic factors can influence vitamin D metabolism and status.
• Understanding gene-vitamin D associations aids in personalized health strategies.

Purpose of the Study:

• To investigate the association between genetic variants in key vitamin D-related genes and serum 25(OH)D concentrations.
• To determine if specific alleles in VDR, CYP2R1, DHCR7, and GC influence vitamin D sufficiency or insufficiency.

Main Methods:

• A cross-sectional study involving 180 patients from a family practice.
• Serum vitamin D levels (25(OH)D) were measured.
• Genotyping was performed for variant alleles in VDR (rs2228570), CYP2R1 (rs10741657), DHCR7 (rs12785878), and GC (rs2282679).

Main Results:

• 40% of patients had sufficient vitamin D (≥ 30 ng/mL), while 78% were insufficient (< 30 ng/mL).
• Variant alleles in CYP2R1 (rs10741657) were associated with a 3.7-fold increased likelihood of vitamin D insufficiency.
• Variant alleles in GC (rs2282679) were associated with a 0.42-fold likelihood of vitamin D insufficiency.
• No significant correlation was found between VDR (rs2228570) or DHCR7 (rs12785878) variants and vitamin D deficiency.

Conclusions:

• Genetic variations in CYP2R1 and GC significantly affect serum vitamin D levels.
• Allelic variations at CYP2R1 (rs10741657) and GC (rs2282679) are linked to vitamin D status.
• VDR and DHCR7 variants did not show a significant association with vitamin D deficiency in this cohort.