Vitamin D-Related Single Nucleotide Polymorphisms as Risk Biomarker of Cardiovascular Disease González Rojo, Paula Pérez Ramírez, Cristina Gálvez Navas, José María Pineda Lancheros, Laura Elena Rojo Tolosa, Susana Ramírez Tortosa, María Carmen Jiménez Morales, Alberto Cardiovascular disease Risk VDR Polymorphisms Biomarkers Cardiovascular diseases (CVDs) are a group of disorders of the heart and blood vessels. In addition to environmental risk factors, genetic predisposition increases the risk; this includes alterations in the vitamin D receptor gene (VDR). These alterations play a key role in modifying vitamin D uptake, being able to modify its function and increasing susceptibility to cardiovascular disorders. The aim of this study was to evaluate the association of polymorphisms in the VDR gene and risk of CVD in a Caucasian population. A retrospective case-control study was conducted comprising 246 CVD patients and 246 controls of Caucasian origin from Southern Spain. The genetic polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232), FokI (rs2228570) and Cdx2 (rs11568820) were determined by means of real-time polymerase chain reaction (PCR) for allelic discrimination using TaqMan® probes. The logistic regression analysis adjusted for body mass index and diabetes revealed that the TT genotype was associated with a higher risk of CVD in both the genotypic model (p = 0.0430; OR = 2.30; 95% CI = 1.06–5.37; TT vs. CC) and the recessive model (p = 0.0099; OR = 2.71; 95% CI = 1.31–6.07; TT vs. C). Haplotype analysis revealed that the haplotype GAC (p = 0.047; OR = 0.34; 95% CI = 0.12–0.98) was associated with increased risk of CVD. The VDR polymorphisms FokI (rs2228570) was significantly associated with the development of CVD. No influence was observed of the VDR polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) on the risk of developing CVD in the patients studied. 2022-09-16T12:00:32Z 2022-09-16T12:00:32Z 2022-08-04 journal article González Rojo, P... [et al.]. Vitamin D-Related Single Nucleotide Polymorphisms as Risk Biomarker of Cardiovascular Disease. Int. J. Mol. Sci. 2022, 23, 8686. [https://doi.org/10.3390/ijms23158686] http://hdl.handle.net/10481/76756 10.3390/ijms23158686 eng http://creativecommons.org/licenses/by/4.0/ open access Atribución 4.0 Internacional MDPI