IntroductionChronic obstructive pulmonary disease (COPD) is a lung disease closely related to exposure to exogenous substances. CYP2B6 can activate many exogenous substances, which in turn affect lung cells. The aim of this study was to assess the association of single-nucleotide polymorphisms (SNPs) in CYP2B6 with COPD risk in a Chinese Han population.Materials and methodsGenotypes of the five candidate SNPs in CYP2B6 were identified among 318 cases and 508 healthy controls with an Agena MassARRAY method. The association between CYP2B6 polymorphisms and COPD risk was evaluated using genetic models and haplotype analyses.ResultsIn allele model, we observed that rs4803420 G and rs1038376 A were related to COPD risk. And rs4803420 G/T and G/T-T/T were related to a decreased COPD risk compared to GG genotype in the co-dominant and dominant models, respectively. When comparing with the AA genotype, rs1038376 A/T and A/T-T/T were associated with an increased COPD risk in the co-dominant and dominant models, respectively. Further gender stratification co-dominant and dominant models analysis showed that genotype G/T and G/T-T/T of rs4803420, and genotype A/T and A/T-T/T of rs1038376 were significantly associated with COPD risk compared to the wide type in males and females, while allele C of rs12979270 was only associated with COPD risk in females. Smoking status stratification analysis showed that rs12979270 C was significantly associated with an increased COPD risk under the allele model compared with allele A in the smoking subgroup. Haplotype analysis showed that haplotype GTA and TAA were related to COPD risk.ConclusionOur data is the first to demonstrate that CYP2B6 polymorphisms may exert effects on COPD susceptibility in the Chinese Han population.
Background
Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality worldwide and is characterized by a partially reversible airflow limitation. Currently, many studies put forward that COPD is associated with both genetic and environmental factors. It has been reported that germline mutations in telomerase are risk factors for COPD susceptibility. In this study, we validated the association between TERT polymorphisms and COPD risk with a case–control study in the Chinese Li population.
Methods
A total of 279 COPD patients and 290 control individuals were recruited. We identified five single nucleotide polymorphisms (SNPs) in TERT that were associated with COPD. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models after adjusting for age and gender to assess the association.
Results
In the genetic model analysis, we found the “C/T‐T/T” genotype of rs10069690 in TERT was associated with an increased COPD risk in the dominant model (p = 0.046); the rs2853677 in TERT was significantly associated with increased COPD risk based on the codominant model (“A/G” genotype, p = 0.033), dominant model (A/G‐G/G genotype, p = 0.0091), and log‐additive model (p = 0.023). The rs2853676 in TERT could increase the risk of COPD in the dominant model (“C/T‐T/T” genotype, p = 0.026) and in the Log‐additive model (p = 0.022).
Conclusion
Our data shed new light on the association between TERT SNPs and COPD susceptibility in the Chinese Li population.
ObjectiveWe investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1), which has been associated with telomere length in several brain cancers and age-related diseases, and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese Han population.MethodsIn a case–control study that included 279 COPD cases and 290 healthy controls, five single-nucleotide polymorphisms in RTEL1 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender.ResultsIn the genotype model analysis, we determined that rs4809324 polymorphism had a decreased effect on the risk of COPD (CC versus TT: OR =0.28; 95% CI =0.10–0.82; P=0.02). In the genetic model analysis, we found that the “C/C” genotype of rs4809324 was associated with a decreased risk of COPD based on the codominant model (OR =0.33; 95% CI =0.13–0.86; P=0.022) and recessive model (OR =0.32; 95% CI =0.12–0.80; P=0.009).ConclusionOur data shed new light on the association between genetic polymorphisms of RTEL1 and COPD susceptibility in the Chinese Han population.
Background
Chronic obstructive pulmonary disease (COPD) is a disease characterized by airflow limitation. It is not completely reversible and shows progressive development. ZNF208 rs8105767 affects telomere length, although the impact of telomere on COPD is still controversial. In the present study, we aimed to explore the impact of the ZNF208 gene polymorphism on telomere length and also that of telomere length on COPD in the Hainan Li population.
Methods
In total, 270 COPD patients and 288 controls were recruited. Telomere length was measured by a quantitative real‐time polymerase chain reaction. Five single nucleotide polymorphisms in ZNF208 were selected and genotyping was performed using MassARRAY software (Agena Bioscience Co. Ltd, San Diego, CA, USA). Differences in telomere length among the subjects with three genotypes of related genes were assessed using analysis of variance. Unconditional logistic regression was used to calculate odds ratios (OR) as the indicator of association between telomere length and COPD risk.
Results
Relative telomere length in the COPD group and control group was 0.66 ± 0.47 and 1.44 ± 0.89, respectively. We grouped according to a median of 0.8284 for telomere length and observed that the risk of COPD for individuals with a telomere length less than 0.8284 is 2.92 times that for individuals with a telomere length longer than 0.8284 (OR = 2.92, 95% confidence interval = 2.01–4.25, p = 1.91 × 10–8). Subjects carrying the G allele of rs2188972 had a longer telomere length. Subjects carrying the carrying the CA genotype of rs8103163 and AC genotype of rs7248488 had a longer telomere length compared to wild‐type individuals.
Conclusions
Shorter telomeres increase COPD risk and the ZNF208 polymorphism affects telomere length in COPD patients.
Background: Chronic obstructive pulmonary disease (COPD) is a complex pulmonary disease. Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) belongs to cytochrome P450 superfamily of enzymes responsible for metabolism, its single nucleotide polymorphisms (SNPs) were reported to be involved in metabolism in the development of many diseases. The study aimed to assess the relation between CYP4F2 SNPs and COPD risk in the Hainan Han population. Method: We genotyped five SNPs in CYP4F2 in 313 cases and 508 controls by Agena MassARRAY assay. The association between CYP4F2 SNPs and COPD risk were assessed by χ 2 test and genetic models. Besides, logistic regression analysis was introduced into the calculation for odds ratio (OR) and 95% confidence intervals (CIs). Results: Allele model analysis indicated that rs3093203 A was significantly correlated with an increased risk of COPD. Also, rs3093193 G and rs3093110 G were associated with a reduced COPD risk. In the genetic models, we found that rs3093203 was related to an increased COPD risk, while rs3093193 and rs3093110 were related to a reduced risk of COPD. After gender stratification, rs3093203, rs3093193 and rs3093110 showed the association with COPD risk in males. With smoking stratification, rs3093144 was significantly associated with an increased risk of COPD in smokers. CYP4F2 SNPs were significantly associated with COPD risk. Conclusions: Our findings illustrated potential associations between CYP4F2 polymorphisms and COPD risk. However, large-scale and well-designed studies are needed to determine conclusively the association between the CYP4F2 SNPs and COPD risk.
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