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The single nucleotide polymorphism −1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia

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Abstract

The −1131T>C polymorphism in the newly identified apolipoprotein A5 (APOA5) gene has been associated with elevated plasma triglycerides. We determined its incidence in 915 patients attending a lipid outpatient clinic. The frequency of the C allele was significantly higher in patients with triglycerides above the 90th percentile and patients with type III hyperlipidemia compared to those with hypercholesterolemia. The C allele was associated with increased plasma triglycerides and decreased plasma HDL cholesterol, conditions associated with an increased risk of coronary heart disease. The effects on plasma lipids were only observed in overweight (BMI>25) patients and were greater in patients who were also carriers of a least one ε4 allele in the APOE gene. Thus additional genetic and/or metabolic factors are required in order for the triglyceride raising and HDL lowering effect of the −1131T>C polymorphism in APOA5 to be expressed.

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Abbreviations

APO :

Apolipoprotein

BMI :

Body mass index

DM 2 :

Diabetes mellitus type 2

HDL :

High-density lipoprotein

HLP :

Hyperlipidemia

LPL :

Lipoprotein lipase

SNP :

Single nucleotide polymorphism

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Acknowledgements

We thank Edda George for excellent technical assistance.

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Correspondence to D. Evans.

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Evans, D., Buchwald, A. & Beil, F.U. The single nucleotide polymorphism −1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia. J Mol Med 81, 645–654 (2003). https://doi.org/10.1007/s00109-003-0465-4

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  • DOI: https://doi.org/10.1007/s00109-003-0465-4

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