[Tbx20基因多态性与先天性房间隔缺损的关联]

[Association between Tbx20 gene polymorphism and congenital atrial septal defects].

作者信息

Ma Yulong, Xiang Yang, Li Xiaomei, Yang Yining, Ma Yitong, Xie Xiang, Liu Fen

机构信息

Department of Cardiology, the First Affiliated Hospital to Xinjiang Medical University, Urumqi 830054, China; Email:

出版信息

Zhonghua Nei Ke Za Zhi. 2015 Oct;54(10):860-4.

PMID:26675025

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.

摘要

目的

探讨新疆汉族人群中Tbx20基因单核苷酸多态性（SNP）与先天性房间隔缺损（ASD）之间的关联。

方法

本研究共纳入214例ASD患者和382例对照。采用TaqMan SNP基因分型方法对Tbx20基因中的两个SNP（rs17675131、rs4720169）进行基因分型。

结果

Tbx20基因的rs17675131在正常对照和ASD患者之间的分布存在显著差异（P = 0.014），其中A/G等位基因分布（P = 0.004）以及显性模型（GG与AG + AA）在两组之间均存在显著差异（P = 0.007，OR = 0.626）。rs4720169 SNP情况相同。其基因型在两组之间的分布存在显著差异（P = 0.016），具体表现为A/G等位基因分布频率（P = 0.016）以及隐性模型（AA与AG + GG）（P = 0.008，OR = 1.96）。发现A - A单倍型与ASD相关。