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目的 探讨5-羟色胺转运体(SERT)基因多态性与慢性阻塞性肺疾病(COPD)的相关性.方法 按入选、排除标准,选择COPD患者51例,对照组为同期健康体检者49例.用PCR方法检测SERT基因多态性;用Real-time RT-PCR方法检测SERT基因mRNA表达.对COPD组患者进行肺功能检查,记录第1秒用力呼气量(FEV1)、用力肺活量(FVC)和FEV1/FVC％.结果 无论COPD组还是健康对照组,均发现3种SERT基因型L/L(528/528)、L/S(528/484)和S/S(484/484),其中SS基因型为主要基因型;COPD组SERT基因表达明显高于对照组;COPD组伴有肺动脉高压(PAH)患者的L等位基因频率明显高于对照组;COPD组LS基因型患者COPD发病年龄小于SS基因型患者.结论 SERT基因多态性与COPD的遗传易感性相关,对促进COPD形成及诱发PAH有一定作用.“,”Aim To investigate the relevance of 5-hydroxytryptamine transporter(SERT)gene polymorphism and chronic obstructive pulmonary disease(COPD).Methods A total of 51 COPD patients and 49 healthy controls were collected.SERT gene polymorphism and mRNA expression in COPD and control groups were assayed by PCR and real-time PCR,respectively.Lung function was evaluated by a forced expiratory volume in 1 second(FEV1),forced vital capacity(FVC)and FEV1/FVC.Results Two allele gene 484 bp and 528 bp were detected.It consisted of three genotypes L/L(528/528),L/S(528/484)and S/S(484/484),and SS genotype was prevalent in control and COPD group;SERT mRNA expression in COPD group was higher than that in the control;L allele in COPD with PAH patients was higher than the control.The age at diagnosis of COPD in LS genotype patients was earlier compared with that in SS genotype patients.Conclusion SERT gene polymorphism is relevant to hereditary susceptibility of COPD,which may play an important role in the development of COPD,especially promoting PAH in advanced stage of COPD.