A family-based association study of the autism and PTEN genes polymorphisms in children
10.3760/cma.j.issn.2095-428X.2014.14.013
- VernacularTitle:基于核心家系的PTEN基因和儿童孤独症的关联研究
- Author:
Yi HU
;
Yanxia ZHANG
;
Shunying YU
;
Yasong DU
- Publication Type:Journal Article
- Keywords:
Autism;
PTEN;
Family-based association study
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(14):1092-1094
- CountryChina
- Language:Chinese
-
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.Methods 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 disequilibrium 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.
