Frequency and association of the genetic polymorphisms rs10741657 in CYP2R1, rs6013897 in CYP24A1 and rs2282679 in GC with vitamin D profile and thyroid function in Saudi Arabian women with hypothyroidism

Objectives: To investigate whether variations in genes linked with vitamin D (VitD) metabolism [including a single nucleotide polymorphism (SNP) in CYP2R1 (rs10741657), CYP24A1 (rs6013897) and GC (rs2282679)] are associated with vitD and thyroid function in subjects with hypothyroidism compared to subjects without hypothyroidism.Methods: This study included 84 women aged ≥50 years with hypothyroidism and 91 healthy women in the same age group.The levels of total serum 25(OH)D, free 25(OH)D and vitamin D binding protein (VDBP) and thyroid function parameters, including TSH, free T3 and free T4, were quantified.Sanger DNA sequencing was used to detect rs10741657, rs6013897 and rs2282679.Results: No associations were detected between rs10741657, rs6013897 or rs2282679 and the vitD profile, which included VDBP, total vitD, and free vitD.The SNP rs2282679 in GC was associated with thyroid function, which was measured by TSH levels, but not with 25(OH)D.Conclusion: This research supports the association of genetic variation in GC with thyroid function.Although our findings did not reveal an association of selected SNPs in CYP2R1 and CYP24A1 with hypothyroidism, further studies with an expanded number of genetic variants in genes regulating vitD metabolism are needed to confirm the link between genetic variations in vitD genes and hypothyroidism.