Pharmacogenetics Unit, Pharmacy Service, University Hospital Virgen de las Nieves, 18014 Granada, Spain.
Department of Biochemistry and Molecular Biology II, Faculty of Pharmacy, Campus Universitario de Cartuja, University of Granada, 18071 Granada, Spain.
Int J Mol Sci. 2022 Aug 4;23(15):8686. doi: 10.3390/ijms23158686.
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 (). 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 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 (rs1544410), (rs731236), (rs7975232), (rs2228570) and (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 ( = 0.0430; OR = 2.30; 95% CI = 1.06-5.37; TT vs. CC) and the recessive model ( = 0.0099; OR = 2.71; 95% CI = 1.31-6.07; TT vs. C). Haplotype analysis revealed that the haplotype GAC ( = 0.047; OR = 0.34; 95% CI = 0.12-0.98) was associated with increased risk of CVD. The polymorphisms (rs2228570) was significantly associated with the development of CVD. No influence was observed of the polymorphisms (rs1544410), (rs731236), (rs7975232) and (rs11568820) on the risk of developing CVD in the patients studied.
心血管疾病（CVDs）是一组涉及心脏和血管的疾病。除了环境风险因素外，遗传易感性也会增加患病风险；这包括维生素 D 受体基因（）的改变。这些改变在调节维生素 D 摄取方面起着关键作用，能够改变其功能并增加患心血管疾病的易感性。本研究旨在评估西班牙南部的一个白种人群中基因多态性与 CVD 风险的关联。进行了一项回顾性病例对照研究，纳入了 246 名 CVD 患者和 246 名来自西班牙南部的白种人对照。通过实时聚合酶链反应（PCR）进行等位基因鉴别，确定了基因的遗传多态性（rs1544410）、（rs731236）、（rs7975232）、（rs2228570）和（rs11568820）。调整体重指数和糖尿病后，逻辑回归分析表明，在基因型模型（=0.0430；OR=2.30；95%CI=1.06-5.37；TT 与 CC）和隐性模型（=0.0099；OR=2.71；95%CI=1.31-6.07；TT 与 CC）中，TT 基因型与 CVD 风险升高相关。单体型分析表明，单体型 GAC（=0.047；OR=0.34；95%CI=0.12-0.98）与 CVD 风险增加相关。基因多态性（rs2228570）与 CVD 的发生显著相关。在所研究的患者中，基因多态性（rs1544410）、（rs731236）、（rs7975232）和（rs11568820）对 CVD 发病风险没有影响。
