Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case–control studyReport as inadecuate




Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case–control study - Download this document for free, or read online. Document in PDF available to download.

BMC Medical Genomics

, 5:64

Prognostics and diagnostics-biomarkers

Abstract

BackgroundChronic 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.

MethodsA 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.

ResultsSignificant 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; the frequencies of the TT haplotype of rs1205 and rs2808630 CRP gene were significantly higher in the control group p=0.0377.

ConclusionOur study suggests some genetic variants associated with the susceptibility of COPD in the Chinese Han population.

KeywordsCOPD Single-nucleotide polymorphisms Genotype Allele frequencies AbbreviationsCOPDChronic obstructive pulmonary disease

FEV1Forced expiratory volume in 1s

FVCForced vital capacity

GWASGenome-wide association study

SNPSingle-nucleotide polymorphisms

MAFMinor allele frequency

HHIPHuman hedgehog interacting protein.

Electronic supplementary materialThe online version of this article doi:10.1186-1755-8794-5-64 contains supplementary material, which is available to authorized users.

Download fulltext PDF



Author: Yi Guo - Yi Gong - Chunming Pan - Yanrong Qian - Guochao Shi - Qijian Cheng - Qingyun Li - Lei Ren - Qiuling Weng - Yi C

Source: https://link.springer.com/



DOWNLOAD PDF




Related documents