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β2肾上腺素能受体基因多态性与慢性阻塞性肺疾病风险的关联:一项中国人群的病例对照研究

Association Between ADRB2 Genetic Polymorphisms and the Risk of Chronic Obstructive Pulmonary Disease: A Case-Control Study in a Chinese Population.

作者信息

Zhao Hui, Wu Xuan, Dong Chun-Ling, Wang Bi-Ying, Zhao Jiao, Cao Xian-E

机构信息

1 Department of Rheumatology, Linyi People's Hospital , Linyi, P.R. China .

2 Supply Room, Linyi People's Hospital , Linyi, P.R. China .

出版信息

Genet Test Mol Biomarkers. 2017 Aug;21(8):491-496. doi: 10.1089/gtmb.2017.0030. Epub 2017 Jul 28.

Abstract

OBJECTIVE

This study was designed to investigate the association between single nucleotide polymorphisms (SNPs) of the β2-adrenergic receptor (ADRB2) gene and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese population.

METHODS

From January 2010 to October 2014, 261 COPD patients were selected as the case group and 239 healthy subjects were selected as the control group. Pulmonary function tests were performed to detect forced vital capacity (FVC), 1-s forced expiratory volume (FEV), and FEV/FVC (%). rs1042711, rs1042714, and rs1042718 were selected as tagSNPs of the ADRB2 gene from the HapMap database in accordance with previous studies. The ADRB2 genotypes were established by real-time polymerase chain reaction assays using TaqMan-labeled probes. The relationships between the ADRB2 polymorphisms and COPD risk were estimated using logistic regression analyses.

RESULTS

The frequency of the genotypes and alleles of rs1042711 in ADRB2 showed a significant difference between the COPD and control groups (p < 0.05); compared with the CC genotype, the non-CC genotypes showed an increased COPD risk (p = 0.002). Compared with the CC haplotype, the TG haplotype increased COPD risk, while the CG haplotype reduced COPD risk for normal individuals. Compared with the CC genotype, the TT genotype showed significantly lower FEV and FEV/FVC (p = 0.022, p = 0.0191, respectively). Both the TC and TG haplotypes showed lower FEV and FEV/FVC in comparison with the CC haplotype (both p < 0.05). The results of logistic regression analysis showed that rs1042711 of ADRB2 and smoking history were associated with COPD risk (both p < 0.05).

CONCLUSION

It is indicated that the TT genotype of rs1042711 and smoking pack years are both risk factors for COPD.

摘要

目的

本研究旨在探讨中国人群中β2-肾上腺素能受体(ADRB2)基因单核苷酸多态性(SNP)与慢性阻塞性肺疾病(COPD)风险之间的关联。

方法

2010年1月至2014年10月,选取261例COPD患者作为病例组,239例健康受试者作为对照组。进行肺功能测试以检测用力肺活量(FVC)、1秒用力呼气容积(FEV)和FEV/FVC(%)。根据先前研究,从HapMap数据库中选择rs1042711、rs1042714和rs1042718作为ADRB2基因的标签SNP。使用TaqMan标记探针通过实时聚合酶链反应测定法确定ADRB2基因型。使用逻辑回归分析评估ADRB2多态性与COPD风险之间的关系。

结果

ADRB2中rs1042711的基因型和等位基因频率在COPD组和对照组之间存在显著差异(p<0.05);与CC基因型相比,非CC基因型显示COPD风险增加(p = 0.002)。与CC单倍型相比,TG单倍型增加COPD风险,而CG单倍型降低正常个体的COPD风险。与CC基因型相比,TT基因型的FEV和FEV/FVC显著降低(分别为p = 0.022,p = 0.0191)。与CC单倍型相比,TC和TG单倍型的FEV和FEV/FVC均较低(均p<0.05)。逻辑回归分析结果显示,ADRB2的rs1042711和吸烟史与COPD风险相关(均p<0.05)。

结论

表明rs1042711的TT基因型和吸烟包年数均为COPD的危险因素。

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