ABSTRACT
CONTEXT/OBJECTIVE: Previous studies have illustrated the association of the ApaI and TaqI polymorphisms of the vitamin D receptor gene, located in non-coding and coding regions, respectively, with diseases such as cancer and cardiovascular disease; however, investigating such association in Egyptian patients with coronary artery disease (CAD) has never been formerly attempted. MATERIALS AND METHODS: Male patients (n = 137), 35-50 years of age, with verified CAD, were recruited alongside age- and sex-matched controls (n = 58). Genotyping and 25-hydroxyvitamin D [25(OH)D] measurement were performed by polymerase chain reaction RFLP and HPLC, respectively. RESULTS: Comparison of the genotypic distribution of both the TaqI and ApaI polymorphisms between patients and controls yielded insignificant results (p = 0.55 and 0.7, respectively). Comparison of the allelic distribution of both polymorphisms also yielded insignificant results. The TaqI polymorphism was not found to predict 25(OH)D levels, whereas the wild-type genotype of the ApaI polymorphism was associated with greater levels of 25(OH)D (p = 0.02), taking all subjects into consideration. DISCUSSION/CONCLUSION: This study presents the ApaI and TaqI polymorphisms as non-influencing players in the pathogenesis of CAD in Egyptian males and the ability of only the ApaI polymorphism to predict 25(OH)D levels, thus warranting further investigations of the triangular relationship between the polymorphisms, 25(OH)D and CAD incidence.
Subject(s)
Coronary Artery Disease/epidemiology , Coronary Artery Disease/genetics , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Receptors, Calcitriol/genetics , Vitamin D/analogs & derivatives , Adult , Biomarkers/blood , Coronary Artery Disease/blood , Egypt/epidemiology , Female , Genetic Association Studies , Genetic Markers/genetics , Humans , Incidence , Male , Middle Aged , Reproducibility of Results , Risk Factors , Sensitivity and Specificity , Vitamin D/bloodABSTRACT
OBJECTIVE: To investigate the relationship between the rs10741657 and rs12794714 polymorphisms in the CYP2R1 gene, 25(OH)D levels, and coronary artery disease (CAD) incidence. METHODS: In total, 134 male patients with verified CAD were recruited, alongside 109 age- and sex-matched controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism, using the corresponding restriction enzyme for each polymorphism, whereas 25(OH)D levels were analyzed by HPLC-UV. RESULTS: 25(OH)D levels were significantly lower in patients. The genotypic and allelic distributions of the rs10741657 polymorphism were significantly different between patients and controls, whereas insignificant results were obtained for the rs12794714 polymorphism. Furthermore, rs10741657, but not rs12794714, predicted 25(OH)D levels. CONCLUSION: The rs10741657 polymorphism is a novel genetic marker for CAD.
Subject(s)
Cholestanetriol 26-Monooxygenase/genetics , Coronary Artery Disease/genetics , Vitamin D/analogs & derivatives , Adult , Case-Control Studies , Coronary Artery Disease/blood , Coronary Artery Disease/enzymology , Cytochrome P450 Family 2 , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Incidence , Male , Middle Aged , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Vitamin D/bloodABSTRACT
BACKGROUND/AIMS: Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotide polymorphisms (SNPs), present in the NADSYN1/DHCR7 locus, as an influential player on circulating 25-hydroxyvitamin D [25(OH)D] levels, which itself has been linked to various diseases including cardiovascular disease (CVD). This study investigated the association of these SNPs with CVD and 25(OH)D levels. METHODS: Sixty- three male patients with verified coronary artery disease (CAD) were recruited, as well as 31 age- and sex-matched controls. Genotyping was performed by sequencing, whereas plasma 25(OH)D levels were assessed by HPLC-UV. RESULTS: Statistical insignificance was observed in comparing the genotype distribution of patients and controls for both the rs12785878 (NADSYN1) polymorphism (p = 0.097) and the rs1790349 (DHCR7; p = 0.9). Comparison of allelic distributions of rs1790349 and rs12785878 yielded insignificant results (p = 0.7, OR: 0.58-2.6 and p = 0.14, OR: 0.88-2.85, respectively). Taking together patients and controls, both SNPs were found to influence total 25(OH)D levels (p = 0.001 and p < 0.0001) as well as 25(OH)D3 levels only in controls. CONCLUSION: This study further supports the evidence of the ability of the investigated SNPs to predict circulating 25(OH)D levels, nonetheless opposing their use as genetic markers for CAD.
