Relation of polymorphisms in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers

Hannuksela, Minna L.; Liinamaa, Johanna; Kesäniemi, Y. Antero; Savolainen, Markku J.

doi:10.1016/0021-9150(94)90065-5

Cited by 126 publications

(92 citation statements)

References 31 publications

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“…Our finding that only 'never smokers' had a significant association of HDL-cholesterol levels with the B1 allele is in line with other studies. 4,5,16 Despite a more favorable baseline HDL-cholesterol, our patients with the B2B2 genotype had a higher event risk and a poor event-free survival, compared to carriers of the B1 allele. This finding is not in line with other studies that assessed cardiovascular event risks according to this polymorphism, and found that subjects with a B2 allele were more protected.…”

Section: Discussionmentioning

confidence: 99%

TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia

Mohrschladt

Beer

Hofman³

et al. 2005

Eur J Hum Genet

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The effects of TaqI restriction fragment length polymorphism of the CETP gene on the occurrence of cardiovascular disease (CVD) events were investigated in patients with familial hypercholesterolemia (FH). A total of 300 FH patients, of which 116 (39%) had CVD at the start of the study, were treated with statins during a mean period of 8.5 years. The distribution of Taq1B genotypes was 31% B1B1, 49% B1B2, and 20% B2B2. No differences were found at baseline between the three genotypes, except for an association of the B1 allele with lower high-density lipoprotein (HDL)-cholesterol levels (P ¼ 0.003). All patients were put on statins within 6-8 weeks after the first visit; about 60% received simvastatin (20 -40 mg daily) and 40% either pravastatin (40 mg daily) or atorvastatin (20-40 mg daily). The different statin treatments were similar for all groups. The mean change of plasma HDL-cholesterol, low-density lipoproteincholesterol, and triglyceride concentration during statin therapy was similar for the three genotypes. During follow-up, new CVD events were recorded in 22 (37%) of the B2B2 patients (n ¼ 59) and in 67 (28%) of B1 allele carriers (n ¼ 241) (P ¼ 0.36). The relative risk for CVD events, after adjustment for age, gender, and CVD at intake, was 1.8 (CI: 1.1 -3.0) for B2B2 carriers compared to B1 allele carriers. The Taq1B polymorphism is a significant predictor of future CVD events in statin-treated patients with FH. In spite of similar improvement of the lipoprotein profile during statin therapy, our FH patients with the B2B2 genotype may have a higher CVD risk in comparison with the B1 allele carriers.

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Section: Discussionmentioning

confidence: 99%

TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia

Mohrschladt

Beer

Hofman³

et al. 2005

Eur J Hum Genet

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“…Other studies showed that the association between CETP genotypes and plasma HDLC levels was decreased due to environmental factors including smoking (27), obesity, and high TG levels (18) and was enhanced by alcohol consumption (27,28). Therefore, the interaction between CETP genotypes and environmental factors on plasma HDLC levels might occur in individuals with high TG levels and/or obese people who are vulnerable to developing metabolic syndrome.…”

Section: Cetp Genenotypes In Vietnamese Childrenmentioning

confidence: 99%

Effect of the Cholesteryl Ester Transfer Protein Genotypes on Plasma Lipid and Lipoprotein Levels in Vietnamese Children

Thu

Tuyet²,

Ohmori

et al. 2005

Pediatr Res

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Cholesteryl ester transfer protein (CETP) is understood to play a regulatory role in HDL cholesterol (HDLC) metabolism. In this study, the effect of CETP genotypes on plasma lipid and lipoprotein levels in 348 Vietnamese girls (aged 7-9) with different nutritional conditions was analyzed. The two mutations, intron 14 G(ϩ1)-to-A (I14A) and Asp 442 to Gly within exon 15 (D442G), and the TaqIB polymorphism in the CETP gene were identified by an Invader assay. The D442G mutation was present with a frequency of 0.034, while the I14A mutation was absent. HDLC levels were significantly higher in carriers of the D442G mutation than in noncarriers, regardless of the nutritional status. Low-density lipoprotein (LDL) cholesterol and triglyceride levels were not significantly lower in carriers of D442G mutation.The frequency of the TaqIB2 allele was 0.34, which was lower than that observed in other Asian populations. TaqIB2B2 carriers also had significantly higher HDLC levels, but this association was weaker than that of the D442G mutation. Overall, genetic variations at the CETP gene locus may account for a significant proportion of HDLC variation in Vietnamese children. HDLC levels in plasma may be altered by a variety of environmental factors including alcohol consumption, a low fat diet, obesity, smoking, and exercise (1). In the general population, about 50% of plasma HDLC variability derives from genetic factors (2). CETP is a plasma glycoprotein that transfers cholesterol ester from HDLC to triglyceride (TG)-rich lipoproteins and regulates plasma HDLC levels (3,4). Two CETP gene mutations, an intron 14 G(ϩ1)-to-A mutation (I14A) and a missense mutation, Asp442 to Gly within exon 15 (D442G), first described in Japanese population, were found to be associated with a CETP deficiency and increased HDLC levels (5,6). In addition, several common restriction fragment length polymorphisms (RFLPs) have also been reported in the CETP gene locus (7-9). The most studied RFLP to date has been TaqIB, which has been shown to be a silent base change affecting the 277th nucleotide in the first intron of the gene. The B2 allele (in which the TaqIB restriction site is absent) at this polymorphic site has been associated with increased HDLC levels and decreased CETP activities and levels in normolipemic subjects, thus resembling a mild form of CETP deficiency (10 -12). The risk of coronary artery disease is inversely related to plasma HDLC levels. Therefore, identification of the underlying genetic basis of plasma HDLC levels is key to the understanding of atherosclerosis-related diseases, which are among the 10 leading mortality causes in Vietnam (13). The aim of this study was to determine the importance of genetic variants in the CETP gene to predict the HDLC levels for the Vietnamese children under different nutritional statuses. METHODSStudy subjects. The study subjects included 348 schoolgirls, aged 7 to 9 y old, who were randomly selected from two schools in the center of Hochiminh city (an urban area) and three schools in the su...

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“…The TaqIB polymorphism of the CETP gene is one of the most studied polymorphisms worldwide. The B2 allele of the TaqIB polymorphism in intron 1 was associated with decreased CETP levels and high HDL-cholesterol levels (16) and with coronary heart disease risk in the Framingham Study (17). Therefore, we selected these three polymorphisms for our analysis.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in Four Genes Related to Triglyceride and HDL-cholesterol Levels in the General Japanese Population in 2000

Arai

Yamamoto

Matsuzawa

et al. 2005

JAT

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We studied the association of six common polymorphisms of four genes related to lipid metabolism with serum lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the genes for cholesteryl ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic lipase (LIPC), and apolipoprotein CIII (APOC3), and studied 2267 individuals randomly selected from the participants of Serum Lipid Survey 2000. There was a significant association of CETP polymorphism (D442G, Int14 +1 G → → → → → A, and TaqIB), LPL polymorphism (S447X), and LIPC polymorphism (-514 → → → → → CT) with HDLcholesterol levels. We also found a significant association of LPL polymorphism (S447X) and APOC3 polymorphism (SstI) with triglyceride levels. This is the largest database showing the association of common genetic variants in lipid metabolism with serum lipid levels in the general Japanese population. Further study is necessary to elucidate the role of these gene polymorphisms in cardiovascular events. J Atheroscler Thromb, 2005; 12: 240-250.

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Relation of polymorphisms in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers

Cited by 126 publications

References 31 publications

TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia

TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia

Effect of the Cholesteryl Ester Transfer Protein Genotypes on Plasma Lipid and Lipoprotein Levels in Vietnamese Children

Polymorphisms in Four Genes Related to Triglyceride and HDL-cholesterol Levels in the General Japanese Population in 2000

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