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    Effects of common variations of NOS3 and CAV1 genes on hypercholesterolemic profile in coronary heart disease
    (2019) İlikay, Serap; Coşkunpınar, Ender M.; Gömleksiz, Özlem Kurnaz; Buğra, Zehra; Eronat, Allison P.; Öztürk, Oğuz; Aydoğan, Hülya Yılmaz
    Caveolin-1 (CAV-1) plays a crucial role in endothelial-nitric oxide synthase (eNOS) enzymatic activity. Therefore, CAV-1 and eNOSinteractions have a significant impact on endothelial dysfunction, cholesterol levels, and atherosclerosis. We investigated the critical variations in NOS3 and CAV1 genes in this case–control study to determine the relations between the coronary heart disease(CHD) risk factors. The NOS3-rs1799983, CAV-1 rs3840634, and rs3807990 variations were analyzed in 76 CHD patients and 91controls using the polymerase chain reaction. Mean serum Total-cholesterol levels were significantly higher in CHD patients withthe CAV-1 rs3807990-T allele than in patients with CC genotype (p=0.017). There was a statistically significant correlation betweenthe rs3807990-T allele and hypercholesterolemia in the CHD group (p=0.008). The multivariate analysis confirmed that the CAV-1rs3807990-T allele (p=0.011) is a risk factor for hypercholesterolemia. Moreover, the serum HDL-Cholesterol level was detectedto be higher in patients carrying both CAV1-rs3807990-T and NOS3-rs1799983-T alleles than those with the CAV-1 rs3807990-CC/NOS3-rs1799983-GG genotype subgroup (p=0.013). These results suggested that the genetic variations of CAV-1 rs3807990 andNOS3-rs1799983 may contribute to the increased hypercholesterolemia risk and thus on the development of CHD.