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Associations of lipoprotein lipase S447X and apolipoprotein E genotypes with low-density lipoprotein subfractions in Turkish patients with coronary artery disease.

机译:土耳其冠心病患者脂蛋白脂酶S447X和载脂蛋白E基因型与低密度脂蛋白亚组分的关系。

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BACKGROUND: This study investigated associations of specific lipoprotein lipase (LPL) S447X and apolipoprotein (Apo)E allelic patterns with low-density lipoprotein (LDL) size and subfraction profiles in patients with coronary artery disease (CAD) and healthy individuals. PATIENTS AND METHODS: Forty-one cases with CAD and 23 controls were compared regarding the occurrence of the Ser-->Stop codon of the LPL and ApoE polymorphism. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques were utilized to perform genotyping, and LDL size and subfractions were assessed by a high-resolution, nongradient polyacrylamide gel electrophoresis technique. RESULTS: The lowest small dense (sd) LDL level was observed for the homozygous LPLX447 genotype (6.00 +/- 4.00 mg/dl) while the highest sdLDL level was observed for LPLX447(+)/ApoE4(+) carriers (14.33 +/- 20.55 mg/dl) in the patient group. No protective effect of LPLX447 allele on the atherogenic LDL profile was observed when it was together with the ApoE4 allele. Furthermore, the detrimental effect of LPLS447 on the atherogenic LDL profile increased when it was present together with the ApoE4 allele. CONCLUSION: The X447 allele of the LPL gene may protect from atherogenic LDL subfraction, although this effect is small. We suggest that the S447X polymorphism of the LPL gene may modify the risk of atherogenic sdLDL fraction in an ApoE-dependent fashion.
机译:背景:本研究调查了冠心病(CAD)患者和健康个体中特定脂蛋白脂肪酶(LPL)S447X和载脂蛋白(Apo)E等位基因模式与低密度脂蛋白(LDL)大小和亚组分谱的相关性。病人和方法:比较了41例CAD患者和23例对照者的LPL的Ser-> Stop密码子和ApoE多态性的发生情况。利用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术进行基因分型,并通过高分辨率,非梯度聚丙烯酰胺凝胶电泳技术评估LDL大小和亚部分。结果:纯合子LPLX447基因型(6.00 +/- 4.00 mg / dl)观察到最低的小致密(sd)LDL水平,而LPLX447(+)/ ApoE4(+)携带者的sdLDL最高水平(14.33 + / -在患者组中为20.55 mg / dl)。当它与ApoE4等位基因一起使用时,未观察到LPLX447等位基因对致动脉粥样硬化性LDL谱的保护作用。此外,当LPLS447与ApoE4等位基因一起存在时,其对致动脉粥样硬化LDL谱的有害作用增加。结论:LPL基因的X447等位基因可以保护动脉粥样硬化性LDL亚型,尽管这种作用很小。我们建议LPL基因的S447X多态性可能会以ApoE依赖的方式修改致动脉粥样硬化sdLDL分数的风险。

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