Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia

Anagnostopoulou, Katherine K.; Kolovou, Genovefa; Kostakou, Peggy; Mihas, Constantinos; Hatzigeorgiou, G.; Marvaki, Christina; Degiannis, Dimitrios; Mikhailidis, Dimitri P.; Cokkinos, Dennis V.

doi:10.1186/1476-511x-8-24

Cited by 43 publications

(44 citation statements)

References 72 publications

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“…Males and postmenopausal females had higher levels of serum TC and TG subclasses compared with premenopausal females [37]. Males seem to have higher levels of postprandial TG than females [38]. All of this aforementioned evidence supports our finding that there exists an interactive effect between gender and certain Hcy metabolic gene polymorphisms on blood lipid levels.…”

Section: Discussionsupporting

confidence: 80%

WITHDRAWN: Association of homocysteine-metabolizing enzyme gene polymorphisms and lipid profiles: an investigation of a geneenvironment interaction

Jiang¹,

Venners²,

Hsu³

et al. 2018

Oncotarget

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The interaction term for the MTHFR 677TT genotype and gender was also significant for TC and LDL-C levels (P = 0.0147 and 0.0243 for interaction, respectively). Further haplotype analysis showed that there also were significant interactions between gender and hap2 (MTHFR 677C/1298A) on TC (P = 0.009) and LDL-C (P = 0.013). We suggest that the negative effects of the MTR and MTHFR genotypes on serum lipids are based on certain gene-environment interactions in the Chinese general population.

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Section: Discussionsupporting

confidence: 80%

WITHDRAWN: Association of homocysteine-metabolizing enzyme gene polymorphisms and lipid profiles: an investigation of a geneenvironment interaction

Jiang¹,

Venners²,

Hsu³

et al. 2018

Oncotarget

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“…In a sex associated review on effect of LPL S447X in familial hypertriglyceridemia, no significant difference in genotype frequencies was noted in patients and controls. The similar results were found when results were compared between males and females [28].…”

Section: Discussionsupporting

confidence: 83%

Study of Common Genetic Variant S447X in Lipoprotein Lipase and Its Association with Lipids and Lipoproteins in Type 2 Diabetic Patients

Momin¹,

Bankar

Bhoite

2015

Ind J Clin Biochem

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Elevated plasma triglyceride and non-esterified fatty acid concentrations may cause insulin resistance and type 2 diabetes mellitus. Lipoprotein lipase (LPL) is a ratedetermining enzyme in lipid metabolism. A variant in the LPL gene has been identified which alters the penultimate amino acid Serine at 447 to a stop codon (S447X), and results in a truncated LPL molecule lacking the C-terminal dipeptide Ser-Gly. The present study was designed to evaluate the frequency of S447X variant in the LPL gene and its effect on the lipid and lipoprotein levels in type 2 diabetic subjects. The genotype frequency distributions of type 2 diabetes patients and controls were in HardyWeinberg equilibrium. Comparison of the genotype and allelic frequencies of S447X in subjects with type 2 diabetics compared to controls demonstrated no significant difference. In subjects with type 2 diabetics having hypertriglyceridemia (TG C 150 mg/dl) compared to diabetics with TG level \150 mg/dl, significant difference in genotype frequency was found among these groups, while allelic frequency of X was significantly differed. Logistic regression analysis showed the negative association of LPL S447X variant with TG and VLDL cholesterol, while no association with total cholesterol, HDL cholesterol and LDL cholesterol was found. The lipid levels except for HDL cholesterol were found to be significantly lower in carriers for S447X than wild type in diabetes group. The decreased level of TG and TG rich lipoprotein in subjects with SNP S447X in LPL, predicts anti-atherogenic activity of carriers for S447X variant in general population as well as type 2 diabetic patients.

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“…Despite more than 60 different mutations of the LPL gene having been described that can result in a reduction of enzyme synthesis and activity, data on the effect of mutations and SNPs of LPL on postprandial response are controversial. While a difference between carriers of the Hind-III (H1/H2) SNP was observed 78 , for the S447X variant, which is one of the most frequent polymorphisms of LPL with an incidence of 17-22% in Caucasian populations 79,80 , both reduced, increased or unchanged LPL activity was reported and available studies failed to clearly demonstrate any difference between genotypes on postprandial lipemia 81 . For HL, data indicate that the presence of the A allele in the À250G/A promoter polymorphism is associated with a higher postprandial lipemic response 82 .…”

Section: Enzymes Of Lipid Metabolismmentioning

confidence: 96%

Postprandial lipemia as a cardiometabolic risk factor

Pirillo

Norata

Catapano

2014

Current Medical Research and Opinion

101

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High levels of fasting circulating triglycerides (TG) represent an independent risk factor for cardiovascular disease. In western countries, however, people spend most time in postprandial conditions, with continuous fluctuation of lipemia due to increased levels of TG-rich lipoproteins (TRLs), including chylomicrons (CM), very low density lipoproteins (VLDL), and their remnants. Several factors contribute to postprandial lipid metabolism, including dietary, physiological, pathological and genetic factors. The presence of coronary heart disease, type 2 diabetes, insulin resistance and obesity is associated with higher postprandial TG levels compared with healthy conditions; this association is present also in subjects with normal fasting TG levels. Increasing evidence indicates that impaired metabolism of postprandial lipoproteins contributes to the pathogenesis of coronary artery disease, suggesting that lifestyle modifications as well as pharmacological approaches aimed at reducing postprandial TG levels might help to decrease the cardiovascular risk.

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Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia

Abstract: Background: This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia.

Cited by 43 publications

References 72 publications

WITHDRAWN: Association of homocysteine-metabolizing enzyme gene polymorphisms and lipid profiles: an investigation of a geneenvironment interaction

WITHDRAWN: Association of homocysteine-metabolizing enzyme gene polymorphisms and lipid profiles: an investigation of a geneenvironment interaction

Study of Common Genetic Variant S447X in Lipoprotein Lipase and Its Association with Lipids and Lipoproteins in Type 2 Diabetic Patients

Postprandial lipemia as a cardiometabolic risk factor

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