Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia

被引：28

作者：

Evans, D ^{[1
]}

Seedorf, U ^{[1
]}

Beil, FU ^{[1
]}

机构：

[1] Univ Klinikum Hamburg Eppendorf, Zentrum Innere Med, D-20246 Hamburg, Germany

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 04期

关键词：

cholesterol; hypertriglyceridemia; genetics; single nucleotide polymorphism; type III hyperlipidemia; apolipoprotein E; apolipoprotein gene cluster; human chromosome 11;

D O I：

10.1111/j.1399-0004.2005.00510.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The great majority of patients with type III hyperlipidemia (type III HLP) are homozygous for the epsilon 2 allele of the APOE gene. However, only about 10% of epsilon 2 homozygotes develop type III HLP, and it has been proposed that additional genetic factors are required for the development of the condition. The frequency of two polymorphisms in the APOA5 gene, -1131T > C and S19W, has been determined in 72 hyperlipidemic patients with APOE2/2 genotype attending a lipid clinic. The frequency of both polymorphisms was significantly higher in APOE2/2 patients than in the normal population. Fifty-three percent of APOE2/2 patients were carriers of one of the polymorphisms compared to 19.7% of controls. Thus, genetic variation in the APOA5 gene is an important cofactor in the development of type III HLP.

引用

页码：369 / 372

页数：4

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