内皮素受体B的基因多态性与COPD的相关性研究  

Association of EDNRB gene polymorphism with chronic obstructive pulmonary disease

作　　者：尹琦[1] 梁永杰[1] 陆晶晶[1] 张路[1] 汪蜀[1] 

机构地区：[1]同济大学附属东方医院呼吸内科,上海200120

出　　处：《同济大学学报（医学版）》2011年第3期33-36,46,共5页Journal of Tongji University(Medical Science)

摘　　要：目的探讨内皮素受体B(endothelin B receotor,EDNRB)基因的第4外显子-30 G/A处单核苷酸多态性与慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)易感性之间关系。方法采用PCR-RFLP技术,检测并分析EDNRB基因-30G/A(L277L)单核苷酸多态性位点在COPD组和健康对照组中的基因型频率、等位基因频率,同时分析该突变位点是否与COPD患者肺功能的下降程度相关。结果研究发现EDNRB基因-30G/A处基因型频率在COPD组和对照组之间的分布存在统计学差异(P<0.05),但等位基因频率的分布在两组之间无统计学差异存在(P>0.05)。此外,COPD患者组中AA基因型组的最大呼气中段流速值(maximal mid-expiratory flow,MMEF)(0.51±0.44)明显小于GG基因型组(1.49±1.70),且三组之间的差异存在统计学意义(P<0.05)。结论 EDNRB-30G>A位点处的基因多态性可能与COPD的易感性相关,同时AA基因型与较低的MMEF值相关。Objective To investigate the association bewteen endothelin B receotor（ EDNRB ）gene polymorphisms and susceptibility to chronic obstractive pulmonary disease （COPD）. Methodes SNP site was detected on EDNRB-30G/A with PCR-RFLP technology, and the frequencies of genotype and allele were analysed between COPD group and control group respectively. Whether the genetic polymorphism of EDNRB genes was associated with the degree of airway obstruction were investigated. Results The frequencies of genotype in EDNRB -30G/A site had significant difference between COPD group and control group （ P 〈 0.05 ）, but no statistically significant difference in the frequencies of allele between two groups. In COPD patients, the maximal mid-expiratory flow （MMEF） in AA genotype goup（0.51±0.44） was significant lower than in GG group（ 1.49±1.70） （P 〈 0.05 ）. Conclusion EDNRB -30G/A polymorphisms might be correlate with the susceptibility to COPD and AA genotype is related to a low MMEF in COPD patients.

关 键 词：慢性阻塞性肺疾病 内皮素受体B 单核苷酸多态性 等位基因 

分 类 号：R563.9[医药卫生—呼吸系统]