Single-nucleotide polymorphisms in the TSPYL-4 and NT5DC1 genes are associated with susceptibility to chronic obstructive pulmonary disease
Single-nucleotide polymorphisms in the TSPYL-4 and NT5DC1 genes are associated with susceptibility to chronic obstructive pulmonary disease
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TSPYL-4 和 NT5DC1 基因的单核苷酸多态性与慢性阻塞性肺疾病的易感性相关
DOI：
10.3892/mmr.2012.964
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发表时间：
2012-09-01
影响因子：
3.4
通讯作者：
Wan, Huanying
中科院分区：
文献类型：
--
作者：
Guo, Yi;Gong, Yi;Wan, Huanying
发生慢性阻塞性肺疾病（COPD）的风险部分由遗传和环境因素决定。许多已发表的候选基因研究由于种族差异和样本量而显示出相互矛盾的结果。在中国人群中进行的这些研究数量很少。为了研究中国南方汉族人群中COPD易感性的候选基因和单倍型，我们对200例COPD患者和250例对照者的DNA样本进行了基因分型，分析了全基因组关联研究（GWAS）确定的与COPD和/或肺功能相关的23个基因中的54个单核苷酸多态性（SNP）。根据基因分型结果进行连锁不平衡分析和单倍型分析。睾丸特异性蛋白Y编码样4（TSPYL-4）基因的rs3749893位点G等位基因和5 '-核苷酸酶域1（NT 5DC 1）基因的rs 1052443位点A等位基因的频率在病例组中显著高于对照组（P=0.032，P
The risk of developing chronic obstructive pulmonary disease (COPD) is partially determined by genetic and environmental factors. Many published candidate gene studies show conflicting results due to ethnic differences and sample sizes. The number of these studies carried out in Chinese populations is small. To investigate candidate genes and haplotypes for susceptibility to COPD in a southern Han Chinese population, we performed genotyping of DNA samples in 200 COPD patients and 250 control subjects by analyzing 54 single-nucleotide polymorphisms (SNPs) in 23 genes associated with the development of COPD and/or pulmonary function identified by genome-wide association studies (GWAS). We also performed linkage disequilibrium (LD) and haplotype analysis according to the results of genotyping. The frequencies of the SNP [rs3749893 of testis-specific protein Y-encoded-like 4 (TSPYL-4) gene] G allele and SNP [rs1052443 of 5'-nucleotidase domain containing 1 (NT5DC1) gene] A allele were significantly higher in the cases studied compared to the control subjects (P=0.032, P