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首页> 外文期刊>Experimental Gerontology >The non-synonymous polymorphism at position 114 of the WRN protein affects cholesterol efflux in vitro and correlates with cholesterol levels in vivo
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The non-synonymous polymorphism at position 114 of the WRN protein affects cholesterol efflux in vitro and correlates with cholesterol levels in vivo

机译：WRN蛋白114位的非同义多态性影响体外胆固醇流出，并与体内胆固醇水平相关

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摘要

Werner syndrome (WS) is a recessive disorder characterized by the premature onset of a number of age-related diseases. The objective of the present study was to examine the degree of associations between non-synonymous coding Single Nucleotide Polymorphisms (SNPs) in the WRN gene and markers of obesity, diabetes, and hypertension using meta-analyses publically available and to test their effect in WS fibroblasts. The P-value, after genomic control correction, for each non-synonymous coding SNP present in the WRN gene was retrieved from the International Consortium for Blood Pressure Genome-Wide Association Study, the Genome Wide Associations Scans for Total Cholesterol, HDL-cholesterol, LDL-cholesterol and triglycerides, and the Meta-Analyses of Glucose and Insulin-related traits Consortium. For SNPs significantly associated with cholesterol traits, we generated expression vectors containing the amino acid changes and measured cholesterol uptake and efflux in transfected WS fibroblasts. One SNP (rs2230009) changing a valine for an isoleucine at position 114 of the WRN protein was nominally associated with cholesterol and LDL-cholesterol measurements (P-values. <. 0.05). Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts. These results implicate a functional effect of this WRN polymorphism on cholesterol metabolism.
机译：Werner综合征（WS）是一种隐性疾病，其特征是许多与年龄有关的疾病的过早发作。本研究的目的是使用公开获得的荟萃分析检查WRN基因中非同义编码单核苷酸多态性（SNP）与肥胖，糖尿病和高血压标志物之间的关联程度，并测试其在WS中的作用成纤维细胞。基因组控制校正后，WRN基因中存在的每个非同义编码SNP的P值均从国际血压基因组全关联研究联盟，全基因组全胆固醇扫描，HDL-胆固醇， LDL-胆固醇和甘油三酸酯，以及葡萄糖和胰岛素相关性状联盟的荟萃分析。对于与胆固醇性状显着相关的SNP，我们生成了包含氨基酸变化的表达载体，并测量了转染的WS成纤维细胞中的胆固醇摄取和流出。一个SNP（rs2230009）改变了WRN蛋白114位上的异亮氨酸的缬氨酸，名义上与胆固醇和LDL-胆固醇测量值相关（P值<0.05）。有趣的是，在114位带有缬氨酸而不是异亮氨酸的WRN cDNA表达载体显着影响WS成纤维细胞中的胆固醇流出。这些结果暗示了该WRN多态性对胆固醇代谢的功能作用。

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