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脂蛋白脂肪酶基因多态性与中国人动脉粥样硬化性脑梗死相关。

Polymorphisms of the lipoprotein lipase gene are associated with atherosclerotic cerebral infarction in the Chinese.

作者信息

Xu E, Li W, Zhan L, Guan G, Wang X, Chen S, Shi Y

机构信息

Institute of Neurosciences, The 2nd Affiliated Hospital of Guangzhou Medical College, 250 Changgang Dong RD, Guangzhou 510260, PR China.

出版信息

Neuroscience. 2008 Aug 13;155(2):403-8. doi: 10.1016/j.neuroscience.2008.06.007. Epub 2008 Jun 8.

DOI:10.1016/j.neuroscience.2008.06.007
PMID:18590804
Abstract

BACKGROUND

Lipoprotein lipase (LPL), which plays an essential role in plasma lipoprotein metabolism and transportation, appears to be a risk factor for ischemic vascular diseases. Several studies have recently reported the presence of relationship between HindIII, PvuII, Ser447Ter (C-->G) polymorphisms of LPL and ischemic vascular diseases.

PURPOSE

We first studied the relationship between LPL polymorphisms and the risk of atherosclerotic cerebral infarction (CI) by detecting the frequencies of LPL HindIII, PvuII and Ser447Ter genotypes and combined genotypes in the Chinese.

METHODS

We recruited 185 CI patients, confirmed by cranial computed tomography or magnetic resonance imaging/angiography, or both, and 186 control subjects. Polymerase chain reaction-restriction fragment length polymorphisms technique was used to detect HindIII, PvuII and Ser447Ter polymorphisms of the LPL gene.

RESULTS

The frequencies of the H+H+ genotype and H+ allele did not differ between CI and control groups. The frequencies of the P+P+ genotype and P+ allele gene were significantly higher in the CI group (P=0.040, P=0.015). The frequencies of CG+GG genotype and G allele were lower in the CI group (P<0.001, P<0.001). In the CI group, the individuals with P+P+ genotype had a significantly higher level of plasma triglyceride (TG) and a lower level of plasma high density lipoprotein cholesterol (HDL-c). CG+GG genotypes were correlated with significantly higher levels of plasma total cholesterol (TC), HDL-c and low density lipoprotein cholesterol (LDL-c) in the CI group. The frequencies of H+/C and P+/C combined genotypes were higher in the CI group than in controls (P<0.001, P<0.001). The frequency of H+/P+/C combined genotype was significantly higher in the CI group than in controls (P<0.001).

CONCLUSIONS

Our study suggests that PvuII and Ser447Ter polymorphisms are associated with lipid profile and CI.

摘要

背景

脂蛋白脂肪酶(LPL)在血浆脂蛋白代谢和运输中起关键作用,似乎是缺血性血管疾病的一个危险因素。最近有几项研究报道了LPL的HindIII、PvuII、Ser447Ter(C→G)多态性与缺血性血管疾病之间存在关联。

目的

我们通过检测中国人群中LPL HindIII、PvuII和Ser447Ter基因型及组合基因型的频率,首次研究LPL多态性与动脉粥样硬化性脑梗死(CI)风险之间的关系。

方法

我们招募了185例经头颅计算机断层扫描或磁共振成像/血管造影或两者确诊的CI患者以及186例对照者。采用聚合酶链反应-限制性片段长度多态性技术检测LPL基因的HindIII、PvuII和Ser447Ter多态性。

结果

CI组和对照组之间H+H+基因型和H+等位基因的频率无差异。CI组中P+P+基因型和P+等位基因的频率显著更高(P = 0.040,P = 0.015)。CI组中CG + GG基因型和G等位基因的频率较低(P < 0.001,P < 0.001)。在CI组中,P+P+基因型个体的血浆甘油三酯(TG)水平显著更高,而血浆高密度脂蛋白胆固醇(HDL-c)水平更低。CG + GG基因型与CI组中显著更高的血浆总胆固醇(TC)、HDL-c和低密度脂蛋白胆固醇(LDL-c)水平相关。CI组中H+/C和P+/C组合基因型的频率高于对照组(P < 0.001,P < 0.001)。CI组中H+/P+/C组合基因型的频率显著高于对照组(P < 0.001)。

结论

我们的研究表明,PvuII和Ser447Ter多态性与血脂谱和CI相关。

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