Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.
Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.
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DOI：
10.1186/1755-8794-5-64
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发表时间：
2012-12-26
影响因子：
2.7
通讯作者：
Wan H
中科院分区：
文献类型：
--
作者：
Guo Y;Gong Y;Pan C;Qian Y;Shi G;Cheng Q;Li Q;Ren L;Weng Q;Chen Y;Cheng T;Fan L;Jiang Z;Wan H
慢性阻塞性肺疾病（COPD）受环境和遗传因素的影响。很少有针对中国人群的COPD基因研究。我们研究了中国汉族人群中与COPD易感性相关的候选基因。本研究共招募331名COPD患者和213名对照受试者。选取46个基因的87个单核苷酸多态性（SNPs）进行基因分型。采用多重聚合酶链反应（PCR）测定基因型。rs1205 C、rs2353397 C、rs20541 T、rs2070600 G、rs10947233 G、rs1800629 G和rs2241712 A这7个snp的等位基因频率在患者与健康对照组之间存在显著差异。经Bonferroni校正后，rs2353397 C与COPD易感性相关性最强。单倍型分析显示，对照组中rs2241718 （TGF-β1基因）、rs6957 （CDC97基因）的GC、GT单倍型频率显著高于COPD病例组（p=1.88×10-9）；对照组rs1205和rs2808630 （CRP基因）TT单倍型频率显著高于对照组（p=0.0377）。我们的研究表明，在中国汉族人群中，一些遗传变异与COPD易感性相关。
Chronic obstructive pulmonary disease (COPD) is influenced by both environmental and genetic factors. Few gene studies of the Chinese population have focused on COPD. We investigated candidate genes associated with susceptibility to COPD in the Chinese Han population. A total of 331 COPD patients and 213 control subjects were recruited for this study. Nighty-seven single-nucleotide polymorphisms (SNPs) of 46 genes were selected for genotyping. Genotypes were determined using multiplex polymerase chain reaction (PCR). Significant differences between patients and healthy controls were observed in the allele frequencies of seven SNPs: rs1205 C, rs2353397 C, rs20541 T, rs2070600 G, rs10947233 G, rs1800629 G, and rs2241712 A. After Bonferroni correction, rs2353397 C was most strongly associated with susceptibility to COPD. Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377). Our study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.
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影响因子：
12.4
作者：
Beghe, B.;Hall, I. P.;Sayers, I.
通讯作者：
Sayers, I.
影响因子：
3.7
作者：
Bouma, G;Crusius, JBA;Pena, AS
通讯作者：
Pena, AS
影响因子：
30.8
作者：
Repapi, Emmanouela;Sayers, Ian;Tobin, Martin D.
通讯作者：
Tobin, Martin D.
影响因子：
10
作者：
Pinto-Plata, VM;Müllerova, H;Celli, BR
通讯作者：
Celli, BR
DOI：
10.1164/ajrccm.164.8.2105002
发表时间：
2001-10-15
影响因子：
24.7
作者：
McCloskey, SC;Patel, BD;Lomas, DA
通讯作者：
Lomas, DA