A family-based association study of the autism and PTEN genes polymorphisms in children

Abstract

Objective To explore the correlation of single nucleotide polymorphism(SNP) with PTEN gene involving in mammalian target of rapamycin (mTOR)C1 signaling genes polymorphisms and autism in children. Me-thods A total of 97 cases with autism were enrolled from Mar.2011 to Dec.2012 in this study, who came from the child and adolescent out-patient department in Shanghai Mental Health Center of Shanghai Jiaotong University School of Medicine.Single SNP association and haplotype association analysis were performed using the family-based association test and Haploview software. Results 1.In a family-based association test, two SNPs showed significant association with autism(rs17107001 G: Z=2.982, P=0.003; rs2299941 G: Z=2.524, P=0.012). After the correction of false discovery rate, they all remained significant.2.Haplotype association analysis showed significant transmission disequili-brium in haplotype T-T-G and C-T-A generated from rs532678-rs17562384-rs2299941(block2) in LD Block, and haplotype T-T-G was over transmitted to offspring(Z=-2.986, P=0.003) while haplotype C-T-A was the opposite (Z=-2.197, P=0.028). Conclusion The SNPs of PTEN genes might have a correlation with autism in children. Key words: Autism; PTEN; Family-based association study