VEGFR-2单核苷酸多态性与子宫内膜异位症遗传易感性的研究  

The correlation of VEGFR-2 gene polymorphism and endometriosis susceptibility

作　　者：石媛媛[1] 田芬[1] 姚海针[2] 韩新彦[1] 尹立阳 SHI Yuanyuan;TIAN Fen;YAO Haizhen;HAN Xinyan;YIN Liyang(Gynaecology of Handan Central Hospital,Handan,Hebei 056000,China;Clinical Laboratory Department of Handan CentralHospital,Handan,Hebei 056000,China;General Surgery of Handan Central Hospital,Handan,Hebei 056000,China)

机构地区：[1]邯郸市中心医院妇一科,河北邯郸056000 [2]邯郸市中心医院临床检验科,河北邯郸056000 [3]邯郸市中心医院普外三科,河北邯郸056000

出　　处：《中国优生与遗传杂志》2021年第2期209-211,共3页Chinese Journal of Birth Health & Heredity

基　　金：河北省卫生厅青年科技基金课题(20200193)。

摘　　要：目的探讨我国汉族妇女VEGFR-2基因的单核苷酸多态性(SNP)与子宫内膜异位症(内异症)遗传易感性的相关性。方法收集2013年6月-2018年12月在邯郸市中心医院就诊临床诊断并经手术治疗病理检查确诊的北方籍汉族妇女共225例内异症患者设为内异症组和260例无内异症的妇女为对照组,采集两组患者外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(HRM)技术检测VEGFR-2基因的SNP,通过病例对照研究评估SNP与内异症的相关性。结果内异症组和对照组rs2305948位点等位基因C、T的频率分别为89%(401/450)、11%(49/450),以及86%(447/520)、14%(73/520);CC、CT、TT基因型频率分别为81%(180/225)、17.9%(41/225)、2.5%(4/225),以及74%(195/260)、22.8%(57/260)、3.2%(8/260),两组分别比较,携带等位基因T使内异症发病风险降低(OR=0.73,95%CI:0.56~0.92)。与C/C基因型相比,C/T+T/T基因型携带者内异症的发病风险明显降低,OR值为0.77(95%CI:0.58~0.99)。而rs1870377及rs7667298位点内异症组与对照组相比差异无统计学意义。结论我国汉族妇女VEGFR-2基因rs2305948位点多态性可能与内异症遗传易感性相关。Objective To evaluate the relationship between single nucleotide polymorphisms of VEGFR-2 gene and endometriosis susceptibility in Chinese Han women.Methods Totally 225 cases of endometriosis from clinical diagnosis and pathological diagnosis in our hospital and 260 healthy women in Chinese Han women were enrolled from June 2013 to December 2018.The high resolution melting curve analysis(HRM)based on fluorescence quantitative Polymerase chain reaction(PCR)and was used to examine the peripheral blood of cases.The correlation between SNP and endometriosis was evaluated by case-control study.Results The frequencies of G and T alleles at rs2305948 locus were 89%(401/450),11%(49/450),and 86%(447/520),14%(73/520)in endometriosis group and control group.Compared with the two groups,the frequencies of CC,CT and TT genotypes were 81%(180/225),17.9%(41/225),2.5%(4/225),and 74%(195/260),22.8%(57/260)and 3.2%(8/260),respectively.The risk of symptoms decreased(OR=0.73,95%CI 0.56–0.92).Compared with C/C genotype,the risk of endometriosis in C/T+T/T genotype carriers was significantly lower,with OR value of 0.77(95%CI=0.58–0.99).Compared with the control group,the difference in P values of rs1870377 and rs7667298 loci was 0.680 and 0.598,respectively.Conclusion Polymorphism at rs2305948 locus of VEGFR-2 gene in Chinese Han women is associated with genetic susceptibility to endometriosis.

关 键 词：血管内皮生长因子受体-2 子宫内膜异位症 基因多态性 

分 类 号：R711.71[医药卫生—妇产科学]