DNMT3L基因rs2070565多态性与子宫内膜异位症发生的相关研究  

Association between rs2070565 polymorphism of DNMT3L Gene and endometriosis

作　　者：陈钰[1] 李海燕[1] 李妍楚 欧阳振波 CHEN Yu;LI Hai-yan;LI Yan-chu;OUYANG Zhen-bo(Department of Gynaecology,the Affiliated Guangdong Second Provincial General Hospital of Jinan University,Guangzhou 510317,China)

机构地区：[1]暨南大学附属广东省第二人民医院妇科,广州市510317

出　　处：《妇产与遗传(电子版)》2024年第2期15-18,共4页Obstetrics-Gynecology and Genetics (Electronic Edition)

基　　金：广东省医学科学技术研究基金项目(B2023039);广东省颐养基金项目(JZ2022001-4)。

摘　　要：目的 探讨DNMT3L基因rs2070565多态性与子宫内膜异位症(endometriosis,EM)遗传易感的相关性。方法 选取2022年1月至2024年3月期间在广东省第二人民医院妇科就诊的139例EM患者作为研究组,同期在该院就诊的264例非EM患者作为对照组,利用PCR-RFLP方法对两组患者的DNMT3L基因rs2070565多态位点进行基因分型。结果 利用Pearson's χ2检验进行统计分析发现对照组与研究组的基因分型存在差异,差异有统计学意义(χ2=7.480,P=0.024)。以GG基因型作为参照,每增加一个等位基因A罹患EM的风险就越高,GA基因型较GG基因型罹患EM的风险增加1.66倍,而AA基因型则增加2.23倍。结论 DNMT3Lrs2070565位点的基因多态性可能与EM的遗传易感性相关。Objective To investigate the association between rs2070565 polymorphism of DNMT3L gene and genetic susceptibility of endometriosis(EM).Methods 139 patients with EM who visited the Department of Gynaecology of the the Affiliated Guangdong Second Provincial General Hospital of Jinan University between January 2022 and March 2024 were selected as the study group,and 264 non‐EM patients who visited the hospital during the same period were selected as the control group.The genotyping of the rs2070565 polymorphic locus in the DNMT3L gene of patients in both groups was conducted using the Polymerase Chain Reaction‐Restriction Fragment Length Polymorphism(PCR‐RFLP)method.Results Statistical analysis using Pearson's χ2 test showed that there was significant difference in genotyping between control group and EM group(χ2=7.480,P=0.024).When the GG genotype serving as the reference,an increased risk of developing EM was observed for each additional allele A,with the GA genotype had a 1.66‐fold increased risk of EM compared with GG genotypes,while the AA genotype had a 2.23‐fold increased risk.Conclusion The polymorphism of rs2070565 in DNMT3L rs2070565 locus may be associated with the genetic susceptibility of endometriosis.

关 键 词：子宫内膜异位症 DNMT3L基因 多态性 遗传易感性 

分 类 号：R711.71[医药卫生—妇产科学]