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脂蛋白脂肪酶S447X和载脂蛋白E基因多态性与土耳其冠心病患者低密度脂蛋白亚组分的相关性

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

作者信息

Aydogan Hulya Yilmaz, Isbir Selim, Kurnaz Ozlem, Gormus Uzay, Isbir Turgay

机构信息

Institute of Experimental Medical Research, Department of Molecular Medicine, Istanbul University, Istanbul, Turkey.

出版信息

In Vivo. 2009 Jan-Feb;23(1):155-61.

PMID:19368142
Abstract

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.

摘要

背景

本研究调查了冠状动脉疾病(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)大小及亚组分谱之间的关联。

患者与方法

比较了41例CAD患者和23例对照者中LPL和ApoE多态性的Ser→终止密码子的发生情况。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,并用高分辨率非梯度聚丙烯酰胺凝胶电泳技术评估LDL大小和亚组分。

结果

在患者组中,纯合LPLX447基因型的小而密(sd)LDL水平最低(6.00±4.00mg/dl),而LPLX447(+)/ApoE4(+)携带者的sdLDL水平最高(14.33±20.55mg/dl)。当LPLX447等位基因与ApoE4等位基因同时存在时,未观察到其对致动脉粥样硬化LDL谱的保护作用。此外,当LPLS447与ApoE4等位基因同时存在时,其对致动脉粥样硬化LDL谱的有害作用增强。

结论

LPL基因的X447等位基因可能对致动脉粥样硬化的LDL亚组分有保护作用,尽管这种作用较小。我们认为,LPL基因的S447X多态性可能以ApoE依赖的方式改变致动脉粥样硬化sdLDL组分的风险。

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