Correlation of HDEFB1 polymorphism and susceptibility to chronic obstructive pulmonary disease in Chinese Han population.
BACKGROUND
Inherited factors are involved in the development of chronic obstructive pulmonary disease (COPD). This study was designed to investigate the relationship between polymorphisms of HDEFB1 668 C/G and 1654G/A loci and susceptibility to COPD in Chinese Han population.


METHODS
After the process of extracting genomic DNA from peripheral blood of COPD smokers and healthy smokers, the loci of genotypes 668C/G and 1654G/A were determined by polymerase chain reaction-restriction fragment length polymorphism analysis and polymerase chain reaction-single strand conformation polymorphism analysis.


RESULTS
With respect to HDEFB1 668 locus, the occurences of CC, CG, GG genotypes were 72.7%, 25.0%, 2.3% in COPD smokers and 53.2%, 38.3%, 8.5% in healthy smokers (P < 0.05, respectively). The allele frequencies of 668 C and 668G were 85.2% and 14.8% in COPD smokers and 72.3% and 27.7% in healthy smokers (P < 0.01, respectively, odds ratio was 2.32 with 95% confidence interval 1.37 to 3.72). As to HDEFB1 1654G/A locus, neither genotype distribution difference nor allele distribution difference was found when comparing COPD smokers with healthy smokers.


CONCLUSIONS
The polymorphism of HDEFB1 668C/G is associated with susceptibility to COPD in Chinese Han population; furthermore, the 668G allele represents relatively lower susceptibility to COPD.
Hu
Rui-Cheng
RC
Department of Respiratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Xu
Yong-Jian
YJ
Zhang
Zhen-Xiang
ZX
Ni
Wang
W
Chen
Shi-Xin
SX
D000368:Aged; D002874:Chromosome Mapping; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D023083:beta-Defensins / Q000235:genetics*
C406407:DEFB1 protein, human; D023083:beta-Defensins