蒙古族和汉族健康人群环氧合酶-2基因单核苷酸多态性分布特征及与吸烟者肺功能的关系

Distribution characteristics of cyclooxygenase-2 gene polymorphism in Mongolian and Han healthy individuals and association with pulmonary function in smokers

目的探讨环氧合酶-2(cyclooxygenase-2,COX-2)基因rs689466和rs20417位点单核苷酸多态性(single nucleotide polymorphism,SNP)在蒙古族和汉族健康人群中的分布特征及其与吸烟者肺功能的关系。方法蒙古族健康人群350例为蒙族组,汉族健康人群335例为汉族组。采用SNPscan分型技术检测2组COX-2基因rs689466和rs20417位点基因型及等位基因频率分布;检测2组吸烟者用力肺活量(forced vital capacity,FVC)占预计值百分比(FVC%pred)、第1s用力呼气容积(forced expiratory volume in one second,FEV1)占预计值百分比(FEV1%pred),计算FEV1/FVC。结果汉族组FVC%pred[(94.29±11.64)%]、FEV1%pred[(94.82±10.81)%]、FEV1/FVC[(82.54±4.71)%]与蒙族组[(93.62±11.06)%、(94.23±10.76)%、(82.90±4.46)%]比较差异均无统计学意义(P>0.05);汉族组COX-2基因rs689466位点A等位基因频率(53.9%)低于蒙族组(60.4%),基因型分布频率(AA基因型26.6%,AG基因型54.6%,GG基因型18.8%)与蒙族组(AA基因型35.4%,AG基因型49.7%,GG基因型14.9%)比较差异有统计学意义(P<0.05);汉族组COX-2基因rs20417位点基因型分布及等位基因频率与蒙族组比较差异无统计学意义(P>0.05);汉族组吸烟者中,rs689466位点AA基因型者FVC%pred[(98.86±13.32)%]高于AG+GG基因型者[(93.07±10.45)%](P<0.05),FEV1/FVC[(80.84±4.67)%]低于AG+GG基因型者[(83.01±5.21)%](P<0.05),FEV1%pred与AG+GG基因型者比较差异无统计学意义(P>0.05);汉族吸烟者中,rs20417位点GC+CC基因型者FVC%pred[(89.61±9.27)%]、FEV1%pred[(91.61±9.03)%]均低于GG基因型者[(96.07±11.97)%、(96.80±10.93)%](P<0.05),FEV1/FVC与GG基因型者比较差异无统计学意义(P>0.05);蒙族组吸烟者中,rs689466、rs20417位点不同基因型FVC%pred、FEV1%pred,FEV1/FVC比较差异均无统计学意义(P>0.05)。结论COX-2基因rs689466位点SNP分布在蒙、汉族健康人群间存在不同,且rs689466、rs20417位点SNP可能与汉族健康吸烟者肺功能相关。

Objective To explore the distribution characteristics of cyclooxygenase-2（COX-2）rs689466 and rs20417 single nucleotide polymorphism in Mongolian and Han healthy individuals and its association with pulmonary function in the smokers.Methods The distribution frequencies of genotype and allele of COX-2 gene rs689466 and rs20417 were detected with SNPscan technique in 350 healthy Mongolian individuals（Mongolian group）and 335 healthy Han individuals（Han group）.The percentage of forced vital capacity（FVC）in the predictive value（FVC%pred）and the percentage of forced expiratory volume in one second（FEV1）in the predicted value（FEV1%pred）were detected and FEV1/FVC was calculated and compared between two groups.Results There were no significant differences in FVC%pred,FEV1%pred and FEV1/FVC% between Han group（（94.29±11.64）%,（94.82±10.81）%,（82.54±4.71）%）and Mongolian group（（93.62±11.06）%,（94.23±10.76）%,（82.90±4.46）%）（P〈0.05）.The rs689466 Aallele frequency was significantly lower in Han group（53.9%）than that in Mongolian group（60.4%）,and there were significant differences in the genotype distributions of rs689466 between Han group（AA：26.6%,AG：54.6%,GG：18.8%）and Mongolian group（AA：35.4%,AG：49.7%,GG：14.9%）（P〈0.05）,and no significant differences in the genotype and allele distribution of rs20417 between two groups（P〈0.05）.In Han smokers,FVC%pred in rs689466 genotype AA carriers（（98.86±13.32）%）was significantly higher than that in genotype AG＋GG carriers（（93.07±10.45）%）（P〈0.05）,FEV1/FVC in rs689466 genotype AA carriers（（80.84±4.67）%）was significantly lower than that in genotype AG＋ GG carriers（（83.01±5.21）%）（P〈0.05）,and there was no significant difference in FEV1%pred（P〈0.05）,while FVC%pred and FEV1%pred in rs20417 genotype GC＋CC carriers（（89.61±9.27）%,（91.61±9.03）%）were significantly lower than those in genotype GG carriers（（96.07±11.97）%,（96.80±10.93）%）（P〈0.05）,and FEV1/FVC showed no significant difference between the rs20417 genotype GC＋CC carriers and GG carriers（P〈0.05）.In Mongolian smokers,there were no significant differences in FVC%pred,FEV1%pred and FEV1/FVC of rs689466 and rs20417（P〈0.05）.Conclusion The distribution of rs689466 single nucleotide polymorphism varies in Mongolian and Han population and is associated with the pulmonary function in Han smokers.