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

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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.