Genetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary disease

2011 ◽  
Vol 415 (2) ◽  
pp. 284-287 ◽  
Author(s):  
Yi Guo ◽  
Hua Lin ◽  
Kai Gao ◽  
Hongbo Xu ◽  
Xiong Deng ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Genetic Analysis ◽  
Pulmonary Disease ◽  
Chronic Obstructive ◽  
Chinese Han ◽  
Obstructive Pulmonary Disease

scholarly journals A highly significant association between Cathepsin S gene polymorphisms rs12068264 and chronic obstructive pulmonary disease susceptibility in Han Chinese population

2018 ◽  
Vol 38 (4) ◽  
Author(s):  
Sheng-lan Gao ◽  
Ya-hong Wang ◽  
Chun-yan Li ◽  
La-wei Yang ◽  
Bao-an Zou ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Sirtuin 1 ◽  
Chinese Han Population ◽  
Cathepsin S ◽  
Chronic Obstructive ◽  
Chinese Han ◽  
Obstructive Pulmonary Disease ◽  
Han Population ◽  
Increased Risk

Cathepsin S (CTSS) and Sirtuin-1 (SIRT1) played crucial roles in the pathogenesis of chronic obstructive pulmonary disease (COPD). However, the associations between the polymorphisms of CTSS as well as SIRT1 and COPD in Asian population remain elusive. In the present study, one single nucleotide polymorphism (SNP) in rs12068264 was discovered (in 385 individuals) to be associated with the susceptibility of COPD in a Chinese Han population. The genotyping was performed using improved multiplex ligase detection reaction (iMLDR) technique. Subjects with T allele of rs12068264 in CTSS gene had an increased risk of COPD (T compared with C: odds ratio (OR) = 1.351, 95% confidence interval (95% CI): 1.008–1.811, P=0.044) compared with C allele. Subjects with TT genotype at rs12068264 had a higher risk of COPD in a recessive model (TT compared with TC + CC: OR = 2.30, 95% CI: 1.06–4.989, P=0.035). Compared with the C variant of rs12068264, the homozygous carriers of the TT genotype had higher procalcitonin (PCT) levels. Finally, haplotype analysis demonstrated that the SNPs in the CTSS and SIRT1 gene had no statistical differences between patients with COPD and the controls. In conclusion, the genetic polymorphisms of CTSS were associated with the susceptibility of COPD in a Chinese Han population, which may be helpful in understanding genetic mechanisms underlying the pathogenesis of COPD.

scholarly journals SERPINE1 -844 and -675 polymorphisms and chronic obstructive pulmonary disease in a Chinese Han population

2016 ◽  
Vol 44 (6) ◽  
pp. 1292-1301 ◽  
Author(s):  
Xia Xu ◽  
Hongchao Wang ◽  
Haijun Li ◽  
Xiaopei Cui ◽  
Hongyu Zhang
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Binary Logistic Regression ◽  
Allele Frequencies ◽  
Chinese Han Population ◽  
Chronic Obstructive ◽  
Chinese Han ◽  
Obstructive Pulmonary Disease ◽  
Han Population ◽  
Hardy Weinberg Equilibrium

Objective To investigate the association between serpin family E member 1 ( SERPINE1) -844 A/G and -675 4G/5G polymorphisms and chronic obstructive pulmonary disease (COPD) in a Chinese Han population. Method SERPINE1 -844 A/G and -675 4G/5G polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism sequencing of genomic DNA from patients with COPD and healthy smoking controls. Results Out of 140 patients with COPD and 100 controls, all SERPINE1 -844 and -675 polymorphisms were in Hardy-Weinberg equilibrium. Differences in SERPINE1 -675 4G and 5G allele frequencies were statistically significant between the COPD and control groups (odds ratio [OR] 1.45, 95% confidence interval [CI] 1.00, 2.09), but there was no significant between-group difference in SERPINE1 -844 A and G allele frequencies. The SERPINE1 -675 4G/4G genotype was associated with COPD (OR 1.87, 95% CI 1.06, 3.32 [binary logistic regression]). Haplotype analysis showed that COPD was associated with SERPINE1 -844G/4G (OR 2.11, 95% CI 1.32, 3.38) and SERPINE1 -844G/5G (OR 0.66, 95% CI 0.45, 0.95). Conclusion The SERPINE1 -675 polymorphism, but not SERPINE1 -844 polymorphism, was associated with susceptibility to COPD in a Chinese Han population.

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