Sib-TDT analysis of human TGF-β1 gene single nucleotide polymorphisms in female twins: evidence for linkage and association with blood pressure at the codon 263 polymorphism

H. Snieder, Ejcg Van Den Oord, M. Chiano, Aj MacGregor,  Td Spector
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引用次数: 7

Abstract

We illustrate the use of a quantitative trait locus (QTL) association test with data on blood pressure and six single nucleotide polymorphisms (SNPs) within the transforming growth factor-β1(TGF-β1) gene in a large sample of dizygotic (DZ) twins. The test was specified within the framework of structural equation modelling and allows for population stratification and easily incorporates confounders. Results showed linkage in the presence of association between the TGF-β1 263 polymorphism and blood pressure levels, with carriers showing a clinically significant increase of 6 and 4 mm Hg in systolic and diastolic blood pressure, respectively. The described association test offers an easy and flexible way to analyse QTL data in sib or DZ twin pairs while controlling for population stratification by making use of within-family controls.

女性双胞胎中人类TGF-β1基因单核苷酸多态性的Sib-TDT分析:密码子263多态性与血压相关的证据
我们利用大量异卵双胞胎中转化生长因子-β1(TGF-β1)基因内的血压和6个单核苷酸多态性(snp)数据进行了数量性状位点(QTL)关联测试。该测试是在结构方程模型的框架内指定的,允许人口分层,很容易合并混杂因素。结果显示TGF-β1 263多态性与血压水平存在关联,携带者的收缩压和舒张压分别显著升高6和4 mm Hg。所描述的关联检验提供了一种简单而灵活的方法来分析sib或DZ双胞胎的QTL数据,同时利用家族内控制来控制群体分层。
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