Abstract:BackgroundLow level of high density lipoprotein cholesterol (HDL-C) has high prevalence in the Tehran Lipid and Glucose Study (TLGS) cohort. About 50% of the inter-individual variation in serum HDL-C levels is genetically determined. Polymorphisms in cholesteryl ester transfer protein (CETP) and hepatic lipase (LIPC) genes have been found to be associated with the metabolism and serum concentration of the HDL-C.ObjectivesTo determine the association between Taq1B polymorphism in CETP gene and -514C/T polymorph… Show more
“…34 Because HL catalyzes the hydrolysis of TG from intermediate-density lipoprotein and LDL, 35 such defects in the HL gene due to the promoter variant -480 C/T may lead to hypertriglyceridemia. Studies on an interactive effect between HL (also known as LIPC [lipase, hepatic]) gene variants and apolipoprotein E2 and that included C-514T,G-250A variants showed strong association of the TT genotype of the -514 C/T variant with hypertriglyceridemia among healthy Canadian adults 36 and similar association with serum triglycerides among an Iranian population, 37 strengthening the finding among NGT subjects in the present study. Although a few studies have shown quite a significant association with HDL-C in other ethnic populations, 38-40 the present study did not find any association with HDL-C.…”
Among South Indian subjects without diabetes, the rs1800588 C/T (C-480T) and rs6074 C/A (Thr479Thr) variants of the HL gene are associated with hypertriglyceridemia and low HDL-C, respectively. The TGC haplotype was significantly associated with low HDL-C.
“…34 Because HL catalyzes the hydrolysis of TG from intermediate-density lipoprotein and LDL, 35 such defects in the HL gene due to the promoter variant -480 C/T may lead to hypertriglyceridemia. Studies on an interactive effect between HL (also known as LIPC [lipase, hepatic]) gene variants and apolipoprotein E2 and that included C-514T,G-250A variants showed strong association of the TT genotype of the -514 C/T variant with hypertriglyceridemia among healthy Canadian adults 36 and similar association with serum triglycerides among an Iranian population, 37 strengthening the finding among NGT subjects in the present study. Although a few studies have shown quite a significant association with HDL-C in other ethnic populations, 38-40 the present study did not find any association with HDL-C.…”
Among South Indian subjects without diabetes, the rs1800588 C/T (C-480T) and rs6074 C/A (Thr479Thr) variants of the HL gene are associated with hypertriglyceridemia and low HDL-C, respectively. The TGC haplotype was significantly associated with low HDL-C.
“…This trend of association was consistent in all ethnic groups and genders although statistical significance was attained only in the Chinese men. Significant association of the B2 allele with elevated HDL-C was also reported for the Framingham population [11], Chinese population [23], Iranian population [19,20] and Tunisian population [9]. In their studies, the protective effects of the B2 allele on the development of CAD were observed in association with increased HDL-C and decreased CETP activity.…”
BackgroundHyperlipidaemia is a major risk factor for coronary artery disease (CAD) and cholesteryl ester transfer protein (CETP) gene polymorphisms are known to be associated with lipid profiles.MethodsIn this study, we investigated the association of two polymorphisms in the CETP, Taq1B (rs708272) and -629C > A (rs1800775), with CAD and lipid levels HDL-C in 662 CAD + cases and 927 controls from the Singapore population comprising Chinese, Malays and Indians.ResultsTaqB2 frequency was significantly lowest in the Malays (0.43) followed by Chinese (0.47) and highest in the Indians (0.56) in the controls. The B2 allele frequency was significantly lower in the Chinese CAD + cases compared to the controls (p = 0.002). The absence of the B2 allele was associated with CAD with an OR 2.0 (95% CI 1.2 to 3.4) after adjustment for the confounding effects of age, smoking, BMI, gender, hypertension, dyslipidemia and diabetes mellitus. The B2 allele was significantly associated with higher plasma HDL-C levels in the Chinese men after adjusting for confounders. Associations with plasma apoA1 levels were significant only in the Chinese men for Taq1B and -629C > A. In addition, the Taq1B polymorphism was only associated with plasma Apo B and Lp(a) in the Malay men. Significant associations were only found in non-smoking subjects with BMI <50th percentile. In this study, the LD coefficients between the Taq1B and -629C > A polymorphisms seemed to be weak.ConclusionThe absence the Taq1B2 allele was associated with CAD in the Chinese population only and the minor allele of the Taq1B polymorphism of the CETP gene was significantly associated with higher plasma HDL-C levels in Chinese men.
“…Moreover, a meta-analysis, based on the data from year 1970 to 2008, also found that individuals with TaqIB B2 allele had higher mean HDL-C concentrations and lower mean CETP activity compared with carriers of B1 allele [13]. Besides, the relationship between TaqIB polymorphism and HDL-C levels was also confirmed by other studies [18,19]. But the association between CETP TaqIB and CAD risk lacks consistency.…”
BackgroundCoronary atherosclerosis, the most common form of coronary artery disease (CAD), is characterized by accumulation of lipid in the walls of coronary arteries. Recent data from clinical trials have showed that high-density lipoprotein cholesterol (HDL-C) has causal role in the pathogenesis and development of coronary atherosclerosis. Cholesteryl ester transfer protein (CETP) is an important regulator of plasma HDL-C. Several genetic mutations in the CETP gene were found to be associated with HDL-C levels. The aim of the present study is to evaluate the association of HDL-C-related CETP polymorphisms and risk of coronary atherosclerosis.MethodsWe investigated the association of seven single nucleotide polymorphisms (SNP) (rs1800775, rs708272, rs5882, rs1532624, rs1864163, rs7499892, and rs9989419) in the CETP gene with the risk of coronary atherosclerosis and levels of HDL-C in a case–control study in China. Included in the study were 420 patients with coronary atherosclerosis and 424 healthy controls. SNP genotyping was performed by TaqMan allelic discrimination assay and serum lipid levels were measured by standard laboratory methods.ResultsCarriers of the AA and GA + AA genotypes of rs708272 had significant lower risks of coronary atherosclerosis (OR = 0.55, 95% CI: 0.36-0.85, p = 0.003; OR = 0.67, 95% CI: 0.50-0.90, p = 0.007, respectively) compared to those with GG genotype. These relations remained significant after adjustment for confounding effects of age, smoking, diabetes and hypertension. The rs1800775 polymorphism was significantly associated with serum levels of HDL-C in healthy controls (p = 0.04). Besides, rs708272 was in close linkage disequilibrium (LD) with rs1800775 in this study.ConclusionsOur findings indicated that CETP rs708272 may be associated with the risk of coronary atherosclerosis and rs1800775 may influence serum HDL-C levels in healthy controls in Chinese.
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