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[非胰岛素依赖型糖尿病患者脂蛋白脂肪酶基因多态性:初步研究]

[Lipoprotein lipase gene polymorphism in non-insulin-dependent diabetics: preliminary study].

作者信息

Pérez F, Lafayette T, Santos J L, Calivillán M, Carrasco E

机构信息

INTA, Universidad de Chile, Santiago.

出版信息

Rev Med Chil. 1997 Nov;125(11):1329-34.

PMID:9609054
Abstract

BACKGROUND

Lipoprotein lipase plays a crucial role in plasma lipoprotein metabolism. Several lipoprotein lipase gene polymorphisms have been found associated with lipid levels, premature atherosclerosis and cardiovascular disease.

AIM

To investigate, in the Chilean population, the genotype distribution of lipoprotein lipase polymorphisms and its possible association with lipid levels and obesity.

PATIENTS AND METHODS

Hind III and Pvu II polymorphism was determined in 45 non-insulin-dependent diabetic patients and in 52 non diabetic controls from Santiago, Chile.

RESULTS

Hind III (+/+) polymorphism had a higher frequency in diabetics as compared to controls (0.6 and 0.29 respectively, p = 0.009). The frequency of heterozygous distribution was higher in non diabetic subjects. Controls and diabetics had comparable gene frequencies for the Pvu II genotype distribution. Analyzing the impact of these polymorphisms on plasma lipid levels, Hind III (+/+) genotype was associated with high levels of total cholesterol and triglycerides in both groups. The heterozygote (+/-) or homozygote (-/-) state for Hind III was effectively associated with high levels of HDL cholesterol levels, as compared to the (+/+) genotype. There was no relationship between these genotypes and body mass index and waist to hip ratio.

CONCLUSIONS

An association between genetic variation at the lipoprotein lipase locus with high levels of triglycerides and total cholesterol was confirmed. However, no association of these genetic markers with anthropometric measurements was found.

摘要

背景

脂蛋白脂肪酶在血浆脂蛋白代谢中起关键作用。已发现几种脂蛋白脂肪酶基因多态性与血脂水平、早发性动脉粥样硬化和心血管疾病相关。

目的

在智利人群中研究脂蛋白脂肪酶多态性的基因型分布及其与血脂水平和肥胖的可能关联。

患者与方法

对来自智利圣地亚哥的45例非胰岛素依赖型糖尿病患者和52例非糖尿病对照者测定Hind III和Pvu II多态性。

结果

与对照组相比,糖尿病患者中Hind III(+/+)多态性的频率更高(分别为0.6和0.29,p = 0.009)。非糖尿病受试者中杂合子分布的频率更高。对照组和糖尿病患者的Pvu II基因型分布的基因频率相当。分析这些多态性对血浆脂质水平的影响,两组中Hind III(+/+)基因型均与总胆固醇和甘油三酯水平升高相关。与(+/+)基因型相比,Hind III的杂合子(+/-)或纯合子(-/-)状态与高密度脂蛋白胆固醇水平升高有效相关。这些基因型与体重指数和腰臀比之间没有关系。

结论

证实了脂蛋白脂肪酶基因座的遗传变异与甘油三酯和总胆固醇水平升高之间存在关联。然而,未发现这些遗传标记与人体测量指标之间存在关联。

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