摘要
目的探讨水通道蛋白-5（AQP5）基因多态性与中国北方汉族人群慢性阻塞性肺疾病（COPD）的遗传易感性及严重程度的关系。方法 2007年6月-2012年5月在解放军306医院呼吸科获得诊断的COPD急性加重（AECOPD）患者220例,男142例,女78例,年龄37~101（74.0±10.0）岁,选取在我院进行体检,且年龄、性别与COPD患者相匹配的285例健康人群列入对照组,男183例,女102例,年龄44~97（72.5±8.6）岁。将COPD组分为4个亚组：第1秒用力呼气容积占用力肺活量百分比（FEV1/FVC）〈70%,第1秒用力呼气肺容积占计值百分比（FEV1%）≥80%为轻度组;50%≤FEV1%〈80%为中度组;30%≤FEV1〈50%为重度组;FEV1≤30%为极重度组,将轻度与中度合并为轻-中度组,重度与极重度合并为重度-极重度组。搜集研究对象外周血标本,采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和SNaPshot法检测AQP5基因3个标签单核苷酸多态性（tSNP）位点（rs3736309,rs296754和rs296759）的基因型分布。采用χ2检验进行Hardy-Weinberg平衡检验,用非条件logistic回归模型计算比数比（OR）及95%可信区间（CI）。比较AQP5 3个tSNP基因型频率分布在健康对照组和COPD患者间的差异,以明确AQP5基因多态性与中国北方汉族人群罹患COPD的相关性。比较轻-中度与重度-极重度COPD患者AQP5基因多态性的差异,以进一步明确AQP5基因多态性与COPD严重程度的关系。结果 AQP5基因rs3736309、rs296754和rs296759位点基因型分布在COPD患者与对照组中无明显差异。但在COPD患者中,rs3736309在轻-中度与重度-极重度患者中基因型分布的差异有统计学意义（P〈0.05）,提示rs3736309多态性位点可能与COPD患者气道阻塞严重程度相关。结论 AQP5基因多态性与COPD的易感性无关,但与COPD的肺功能损害严重程度有关。
Objective To explore the relationship between aquaporin-5（AQP5） gene polymorphism and the genetic susceptibility and clinical severity of chronic obstructive pulmonary disease（COPD） in Han population of north China.Methods Two hundred and twenty COPD patients（142 males and 78 females,aged 37-101（74.0±10.0） years,diagnosed in the 306 Hospital of PLA from Jun.2007 to May 2012） were listed as the study group,and 285 healthy subjects（183 males and 102 females,aged 4497（72.5±8.6） years） were recruited as control group.The COPD patients with FEV1/FVC ＆lt;70% were divided into 4 subgroups based on Post-Bronchodiflator FEV1： those with FEV1% ≥80% were assigned as mild subgroup,patients with 50% ≤FEV1% ＆lt;80% as in moderate subgroup,with 30% ≤FEV1% ＆lt;50% as severe subgroup,and those with FEV1% ≤30% as very severe subgroup.Patients in mild and moderate subgroups were combined into mild-to-moderate group,and those in severe and very severe subgroups were combined into severe-to-very severe group.Three tSNPs（rs3736309,rs296754 and rs296759） of AQP5 gene were selected for genotyping by PCR-RFLP and SNaPshot analysis.Chi-square test was used to perform the Hardy-Weinberg test,and unconditional logistic regression was used to calculate the odds ratio（OR） and 95% confidence interval（CI）.The genotype frequency distribution was compared to identify relationship between AQP5 gene polymorphisms and COPD in Han population of north China.The genotype frequency distribution between mild-to-moderate and severe-to-very severe group was compared to further clarify the relationship between AQP5 gene polymorphisms and the severity of COPD.Results The genotype distribution of 3 tSNPs in COPD patients showed no difference from that in healthy controls.Advanced analysis performed in the COPD patients revealed that the genotype distribution of rs3736309 in mild-to-moderate COPD patients was significantly different to that in severe-tovery severe patients（P＆lt;0.05）.The genotypes rs2
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2013年第7期569-573,共5页
Medical Journal of Chinese People's Liberation Army
关键词
肺疾病
慢性阻塞性
水通道蛋白-5
多态性
单核苷酸
pulmonary disease,chronic obstructive
aquaporin 5
polymorphism,single nucleotide
