NKX2-5基因rs29784与中国汉族人群婴儿肥厚性幽门狭窄的关联
Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.
作者信息
Feng Zhiqiang, Liang Peizhi, Li Qingning, Nie Yuqiang, Zhang Youxiang
机构信息
Department of Gastroenterology, Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou Digestive Disease Center Guangzhou, China ; Guangzhou Key Laboratory of Digestive Disease, Guangzhou First People's Hospital, Guangzhou Medical University Guangzhou, China.
Department of Pediatrics, Guangzhou First People's Hospital, Guangzhou Medical University Guangzhou, China.
出版信息
Int J Clin Exp Med. 2015 Feb 15;8(2):2905-10. eCollection 2015.
PURPOSE
The aim of this study was to evaluate the association of three single nucleotide polymorphisms (SNPs, rs11712066 and rs573872 near MBNL1, rs29784 near NKX2-5) with infantile hypertrophic pyloric stenosis (IHPS) in Chinese Han population.
METHODS
A total of 47 family trios consisting of infants with IHPS and their healthy biological parents were recruited for this study. Genotypes were determined using direct sequencing. Transmission disequilibrium test (TDT) was performed for family-based association analysis.
RESULTS
Genotypic distributions of three SNPs in both groups (patients and proband's parents) were in conformity with Hardy-Weinberg equilibrium (P > 0.05). There were significant preferential transmission of A allele of rs29784 from the parents to affected offspring (TDT: x(2) = 5.444, P = 0.0196). However, other two polymorphism loci (rs11712066 and rs573872) were not significant susceptibility loci for IHPS in Chinese Han population.
CONCLUSIONS
We found that there was a significant association between rs29784 and IHPS.
目的
本研究旨在评估三个单核苷酸多态性（SNPs，MBNL1附近的rs11712066和rs573872，NKX2 - 5附近的rs29784）与中国汉族人群婴儿肥厚性幽门狭窄（IHPS）之间的关联。
方法
本研究共招募了47个由患有IHPS的婴儿及其健康亲生父母组成的三联体家庭。采用直接测序法确定基因型。进行传递不平衡检验（TDT）用于基于家系的关联分析。
结果
两组（患者和先证者父母）中三个SNPs的基因型分布均符合Hardy - Weinberg平衡（P > 0.05）。rs29784的A等位基因从父母向受影响后代存在显著的优先传递（TDT：x(2)=5.444，P = 0.0196）。然而，其他两个多态性位点（rs11712066和rs573872）在中国汉族人群中并非IHPS的显著易感位点。
结论
我们发现rs29784与IHPS之间存在显著关联。
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