雌激素受体α基因Pvu Ⅱ多态性与膝关节骨关节炎的相关性研究  

Correlation study between Pvu Ⅱ polymorphism of estrogen receptorαgene and knee osteoarthritis

作　　者：应璞 路通[1] 许岳[1] 薛燚[1] 诸磊 丁文鸽[2] 戴小宇[2] 缪逸鸣[1] YING Pu;LU Tong;XU Yue;XUE Yi;ZHU Lei;DING Wenge;DAI Xiaoyu;MIAO Yiming(Department of Orthopedics,Changshu Hospital Affiliated to Nanjing University of Chinese Medicine,Changshu,Jiangsu 215500,China;Department of Orthopedics,the Third Affiliated Hospital of Soochow University/First People′s Hospital of Changzhou,Changzhou,Jiangsu 213000,China)

机构地区：[1]南京中医药大学常熟附属医院骨科,江苏常熟215500 [2]苏州大学附属第三医院/常州市第一人民医院骨科,江苏常州213000

出　　处：《国际检验医学杂志》2023年第6期672-676,共5页International Journal of Laboratory Medicine

基　　金：苏州市科技发展计划指导性项目(SKJYD2021007、SKJYD2021202);苏州市“科教兴卫”青年科技项目(KJXW2020068);常熟市卫健委科技计划项目资助性重点项目(CSWS202118);南京中医药大学常熟附属医院课题(cszyy201910)。

摘　　要：目的探讨雌激素受体α基因Pvu Ⅱ多态性(rs2234693)与膝关节骨关节炎的相关性。方法对单核苷酸多态性(SNP)rs2234693进行病例-对照关联研究,共对1953例受试者(1033例病例组和920例对照组)进行基因分型。比较病例组和对照组的等位基因和基因型频率。结果对病例组和对照组年龄、体重指数和性别进行校正后,显性模型(TT+TC vs.CC)差异有统计学意义(P<0.05)。与等位基因C相比,T等位基因频率也较高(P<0.05)。按膝关节骨关节炎严重程度分层,TT+TC基因型和T等位基因与轻度膝关节骨关节炎明显相关,但与重度膝关节骨关节炎无关。结论雌激素受体α基因Pvu Ⅱ多态性在早期膝骨关节炎的发病中具有重要意义。Objective To investigate the relationship between estrogen receptor α gene Pvu Ⅱ polymorphism(rs2234693)and knee osteoarthritis.Methods A case-control association study on single nucleotide polymorphism(SNP)rs2234693 was performed,and a total of 1953 subjects(1033 case group and 920 control group)were genotyped.Allele and genotype frequencies were compared between case group and control group.Results After adjustment for age,body mass index and gender,the dominant genetic model(TT+TC vs.CC)was significantly different between the case group and the control group(P<0.05).The frequency of T allele was also higher than that of C allele(P<0.05).Stratified by knee osteoarthritis severity,TT+TC genotype and T allele were significantly associated with mild knee osteoarthritis but not severe knee osteoarthritis.Conclusion Estrogen receptor α gene Pvu Ⅱ polymorphism is of considerable importance in the pathogenesis of early-stage knee osteoarthritis.

关 键 词：雌激素受体Α基因 单核苷酸多态性 膝关节骨关节炎 

分 类 号：R684.3[医药卫生—骨科学]