首页> 外文期刊>Molecular genetics and metabolism >Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
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Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.

机译:与冠状动脉疾病有关的脂蛋白脂肪酶和载脂蛋白AI-CIII的常见遗传变异:一项针对中国和欧洲受试者的研究。

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摘要

The large ethnic differences in prevalence of coronary artery disease between China and Europe may relate to both genetic and environmental differences. To assess possible genetic factors we have therefore studied the frequencies of disease-related variants of genes involved in lipid transport in 69 hypertriglyceridemic Chinese subjects and 74 healthy Chinese controls. The loci studied include lipoprotein lipase (Asp9Asn, Asn291Ser, Ser447Ter, and Thr361Thr); apolipoprotein A1 (restriction sites at MspI, XmnI, and PstI); and apolipoprotein (apo) CIII (G3175C). All these variants have been shown in previous literature publications to relate to either dyslipidemia and/or premature coronary heart disease in Caucasians. Two disease-related genetic variants in Europeans (Asp9Asn and Asn291Ser) were not found in the Chinese sample. The apo CIII G3175C variant was found more frequently in the upper tertile distributions for apolipoprotein CIII, apolipoprotein E, and plasma triglyceride/HDL ratios (P < 0.05). The rare allele of the apo AI MspI restriction site polymorphic variant was also found more frequently in the upper tertiles for apo CIII, apo E, and plasma triglyceride/HDL ratios (P < 0.04). Eleven of the most lipaemic Chinese subjects (with fasting plasma triglycerides >700 mg/dl) were analyzed for DNA sequence variation. One novel mutation was observed C1338A (which is a silent mutation at Thr361) and two others that are also found in European subjects (Ala261Thr and Ser447Ter). We conclude that genetic differences between Chinese and Europeans may have an effect on the prevalence of coronary artery risk factors involved in lipid transport, and further extended study is warranted. Copyright 1998 Academic Press.
机译:中国和欧洲之间在冠状动脉疾病患病率上的巨大种族差异可能与遗传和环境差异有关。因此,为了评估可能的遗传因素,我们在69名高甘油三酸酯血症的中国受试者和74名健康的中国对照组中研究了与脂质转运有关的疾病相关基因变异的频率。研究的基因座包括脂蛋白脂肪酶(Asp9Asn,Asn291Ser,Ser447Ter和Thr361Thr);载脂蛋白A1(MspI,XmnI和PstI的限制性位点);和载脂蛋白(apo)CIII(G3175C)。所有这些变体已在先前的文献出版物中显示出与高加索人的血脂异常和/或早发性冠心病有关。在中国样本中未发现欧洲人的两种与疾病相关的遗传变异(Asp9Asn和Asn291Ser)。在载脂蛋白CIII,载脂蛋白E和血浆甘油三酯/ HDL比率的上三分位数分布中,载脂蛋白CIII G3175C变体的出现频率更高(P <0.05)。在载脂蛋白CIII,载脂蛋白E和血浆甘油三酸酯/高密度脂蛋白比(P <0.04)的上三分位数中,载脂蛋白AI MspI限制性酶切位点多态性变体的稀有等位基因也更为常见。分析了11位最富血脂的中国受试者(空腹血浆甘油三酸酯> 700 mg / dl)的DNA序列变异。观察到一个新的突变C1338A(在Thr361处是一个沉默突变),在欧洲受试者中也发现了另外两个(Ala261Thr和Ser447Ter)。我们得出的结论是,中国人和欧洲人之间的遗传差异可能对参与脂质转运的冠状动脉危险因素的患病率有影响,因此有必要进一步进行研究。版权所有1998学术出版社。

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