摘要
目的探讨中国汉族妇女PDCD6(程序性死亡细胞因子6)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月在我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例内异症患者为内异症组和260例无内异症的妇女(对照组)的外周血,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PDCD6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rs4957014位点等位基因G、T的频率分别为59.8%(311/520)、40.2%(209/520)和28%(126/450)、72%(324/450),GG、GT、TT基因型频率分别为43.8%(114/225)、31.9%(83/225)、24.3%(63/225)和8%(18/260)、40%(90/260)、52%(117/260),两组分别比较,携带等位基因T使内异症发病风险降低(OR=0.83,95%CI为0.67~0.92)。而rs3756712位点内异症组与对照组相比差异均大于0.05,无统计学意义。结论中国汉族妇女PDCD6基因rs4957014位点多态性与内异症遗传易感性相关。
Objective:To evaluate the relationship between single nucleotide polymorphisms of PDCD6 gene and endometriosis susceptibility in Chinese Han women.Methods:225 cases of endometriosis from clinical diagnosis and pathological diagnosis in our hospital and 260 healthy women in Chinses 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.Resμlts:The frequencies of G and T alleles at rs4957014 locus were 59.8%(311/520),40.2%(209/520),28%(126/450),72%(324/450),43.8%(114/225),31.9%(83/225),24.3%(63/225)and 8%(18/260),40%(90/260),52%(117/260)in endometriosis group and control group.Compared with the two groups,carrying allele T reduced the risk of endometriosis(OR=0.83,95%CI is 0.67-0.92).The difference of rs3756712 locus between the two groups was greater than 0.05,and there was no statistical significance.Conclusions:Polymorphism at rs4957014 locus of PDCD6 gene in Chinese Han women is associated with genetic susceptibility to endometriosis.
作者
石媛媛
田芬
姚海针
韩新彦
SHI Yuan-yuan;TIAN Fen;YAO Hai-zhen;HAN Xin-yan(Gynaecology of Handan Central Hospital,Hebei Handan 056000;Clinical Laboratory Department of Handan Central Hospital,Hebei Handan 056000)
出处
《中国优生与遗传杂志》
2020年第7期802-804,共3页
Chinese Journal of Birth Health & Heredity
