Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study

被引：24

作者：

Guo, Yi ^{[1
]}

Gong, Yi ^{[2
]}

Pan, Chunming ^{[3
]}

Qian, Yanrong ^{[1
]}

Shi, Guochao ^{[1
]}

Cheng, Qijian ^{[1
]}

Li, Qingyun ^{[1
]}

Ren, Lei ^{[4
]}

Weng, Qiuling ^{[4
]}

Chen, Yi ^{[5
]}

Cheng, Ting ^{[1
]}

Fan, Liang ^{[1
]}

Jiang, Zhihong ^{[1
]}

Wan, Huanying ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Dept Pulm Med, Rui Jin Hosp, Shanghai 200025, Peoples R China

[2] Fu Dan Univ, Dept Resp Med, Hua Shan Hosp, Shanghai 200040, Peoples R China

[3] Shanghai Rui Jin Hosp, Mol Med Ctr, State Key Lab Med Genom, Shanghai 200025, Peoples R China

[4] Shanghai Jing An Geriatr Hosp, Dept Resp Med, Shanghai 200042, Peoples R China

[5] Shanghai Gong Hui Hosp, Dept Resp Med, Shanghai 200041, Peoples R China

来源：

BMC MEDICAL GENOMICS | 2012年 / 5卷

关键词：

COPD; Single-nucleotide polymorphisms; Genotype; Allele frequencies; NECROSIS-FACTOR-ALPHA; C-REACTIVE PROTEIN; PROMOTER POLYMORPHISM; RISK; COPD; HEDGEHOG; PATHWAY; EXPRESSION; HAPLOTYPES; STRATEGY;

D O I：

10.1186/1755-8794-5-64

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: 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. Methods: 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). Results: 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-beta 1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88x10(-9)); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377). Conclusion: Our study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.

引用

页数：19

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