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

• Published in: Biomarkers Vol. 22; no. 3-4; pp. 287 - 290
• Main Authors: Chen, Yu, Zhang, Rui, Xie, Jun, Li, Yajiao, Shi, Shaoqing, Qian, Hong, Yan, Zhiguo, Rao, Li
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 19.05.2017
• Subjects: Case-Control Studies; Child, Preschool; Conotruncal heart defects; Female; Gene Frequency; Genetic Variation; Genotype; Heart Defects, Congenital - genetics; Humans; Male; Polymorphism, Single Nucleotide; single nucleotide polymorphisms; Transforming Growth Factor beta2 - genetics; transforming growth factor β2; single nucleotide polymorphisms; transforming growth factor β2; Conotruncal heart defects
• ISSN: 1354-750X; 1366-5804; 1366-5804
• DOI: 10.1080/1354750X.2016.1217932

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