Genetic variance of transforming growth factor β2 gene in conotruncal heart defects

<p><b>Objective:</b> The aim of this study was to evaluate the association between two haplotype-tag single nucleotide polymorphisms (SNPs) (rs6658835 and rs10495098) of <i>TGF-β2</i> and conotruncal heart defects (CTDs).</p> <p><b>Methods:</b> Two polymorphisms of <i>TGF-β2</i> gene were genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) from 259 CTDs patients and 310 control subjects.</p> <p><b>Results:</b> The association between SNP rs6658835 in <i>TGF-β2</i> and CTDs has been found. The frequency of G allele in CTDs patients was significantly higher than that in control subjects (52.7% versus 40.3%, <i>p</i> < 0.001, OR =1.649).</p> <p><b>Conclusion:</b><i>TGF-β2</i> gene polymorphisms may serve as a novel genetic marker for the risk of CTDs.</p>