Correlation of HDEFB1 polymorphism and susceptibility to chronic obstructive pulmonary disease in Chinese Han population

• Published in: Chinese medical journal Vol. 117; no. 11; pp. 1637 - 1641
• Main Authors: Hu, Rui-Cheng, Xu, Yong-Jian, Zhang, Zhen-Xiang, Ni, Wang, Chen, Shi-Xin
• Format: Journal Article
• Language: English
• Published: China Department of Respiratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China 01.11.2004
• Subjects: Aged; beta-Defensins - genetics; Chromosome Mapping; Female; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Polymorphism, Genetic; Pulmonary Disease, Chronic Obstructive - genetics; human beta defensin-1; susceptibility; polymorphism (genetics); pulmonary disease,chronic obstructive
• ISSN: 0366-6999; 2542-5641

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. 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. 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. 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.