Association between Tbx20 gene polymorphism and congenital atrial septal defects

VernacularTitle:Tbx20基因多态性与先天性房间隔缺损的相关性研究
Author: Yulong MA ; Yang XIANG ; Xiaomei LI ; Yining YANG ; Yitong MA ; Xiang XIE ; Fen LIU
Publication Type:Journal Article
Keywords: Heart septal defects,atrial; Tbx20; Single nucleotide polymorphism
From: Chinese Journal of Internal Medicine 2015;54(10):860-864
CountryChina
Language:Chinese
Abstract: Objective To investigate the association between single nucleotide polymorphisms (SPN) of Tbx20 gene and congenital atrial septal defects (ASD) in the Xinjiang Han population.Methods A total of 214 ASD patients and 382 controls were included in the present study.Two SNPs (rs17675131,rs4720169) in Tbx20 gene were genotyped by TaqMan SNP genotyping method.Results The distribution of the rs17675131 of Tbx20 were significantly different between normal controls and ASD patients (P =0.014),in which both the A/G allele distribution (P =0.004) and the dominant model (GG vs AG + AA) were significantly different between the 2 groups (P =0.007,OR =0.626).Same is true for the rs4720169 SNP.Its genotype showed significantly different distributions between the 2 groups (P =0.016) specifically for the A/G allele distribution frequencies (P =0.016) and the recessive model (AA vs AG + GG) (P =0.008,OR =1.96).The A-A haplotype was found to be associated with ASD.Conclusion Both rs17675131 and rs4720169 of Tbx20 gene are associated with congenital ASD in the Xinjiang Han population in China.