摘要
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.
作者
王鑫
徐桂华
高笑宇
焦娜
陈纪元
张赛男
王燕
孙德俊
WANG Xin;XU Gui-hua;GAO Xiao-yu;JIAO Na;CHEN Ji-yuan;ZHANG Sai-nan;WANG Yan;SUN De-jun(Department of Pulmonary Medicine, the Inner Mongolia People's Hospital, Hohhot 010017, China)
出处
《中华实用诊断与治疗杂志》
2018年第5期458-461,共4页
Journal of Chinese Practical Diagnosis and Therapy
基金
国家自然科学基金(81560013)
内蒙古自治区重大专项(2017年)
关键词
肺功能
环氧合酶-2
单核苷酸多态性
蒙古族
汉族
Pulmonary function
cyclooxygenase 2
single nucleotide polymorphism
Mongolian
Han