基于全外显子测序分析IL-1β、IL-4R和IL-17基因多态性与新疆部分地区汉族女性复发性流产的关联性  

Association between IL-1β,IL-4R and IL-17 gene polymorphisms and recurrent miscarriage based on whole exome sequencing among Han women in parts of Xinjiang

作　　者：于丽菲 王俊 赵琼珍 刘金瑞 李彦奇 刘盼盼 王娟 赵杰 黄卫东 YU Li-fei;WANG Jun;ZHAO Qiong-zhen;LIU Jin-rui;LI Yan-qi;LIU Pan-pan;WANG Juan;ZHAO Jie;HUANG Wei-dong(Xinjiang Jiayin Hospilal,Urumqi 830000;Human Genetic Resources Repository of Xinjiang Tanzhi Stem Cell Bank Limited Liability Company,Tumshuk 844000)

机构地区：[1]新疆佳音医院,乌鲁木齐830000 [2]新疆碳智干细胞库集团有限公司人类遗传资源保藏库,图木舒克844000

出　　处：《生殖医学杂志》2024年第11期1457-1462,共6页Journal of Reproductive Medicine

基　　金：2021年第三师图木舒克市科技计划项目(KY2021GG06);2022年第三师图木舒克市科技计划项目(KJ2022CX02)。

摘　　要：目的 探讨新疆部分地区汉族女性复发性流产(RSA)患者外周血白细胞介素-1β(IL-1β)基因rs1143634位点、IL-4R基因rs1805010位点及IL-17基因rs763780位点基因多态性的分布情况,并讨论其与RSA发病的关联性。方法 选取2020年1月至2023年12月新疆佳音医院收治的214例RSA患者为研究对象(RSA组),并选择同期159例健康育龄期女性为对照组。比较两组研究对象的一般情况,采集两组女性的外周血进行全外显子测序,查阅文献并按照质量标准筛选出IL-1β基因rs1143634位点、IL-4R基因rs1805010位点和IL-17基因rs763780位点,比较以上3个基因位点的基因型和等位基因频率分布情况,并分析不同基因型致RSA发生的风险。结果 RSA组和对照组间不同年龄、体质量指数(BMI)、吸烟史和饮酒史的分布情况比较均无显著性差异(P>0.05)。RSA组IL-4R基因rs1805010位点等位基因G基因分布频率显著低于对照组[(45.6%vs. 52.8%),P<0.05],IL-1β基因rs1143634位点A等位基因分布频率显著高于对照组[(4.4%vs. 2.5%),P<0.05]。在等位基因遗传模式下,两组研究对象中IL-4R rs1805010位点携带G等位基因的人群RSA发病风险低于A等位基因[OR=0.747,95%CI(0.559,1.000)];IL-1β rs1143634位点携带A等位基因的人群RSA发病风险高于G等位基因[OR=0.298,95%CI(0.130,0.694)]。结论 新疆部分地区汉族女性IL-4R基因rs1805010位点G等位基因和IL-1β基因rs1143634位点A等位基因可能与RSA发病有关。Objective:To explore the distribution of polymorphisms in peripheral blood of Han women with recurrent miscarriage(RSA)in parts of Xinjiang,including rs1143634 of interleukin(IL)-1βgene,rs1805010 of IL-4R gene and rs763780 of IL-17 gene,and their correlation with the incidence of RSA.Methods:A total of 214 RSA patients admitted to Xinjiang Jiayin Hospital from January 2020 to December 2023 were selected as the study subjects(RSA group),and 159 healthy women of childbearing age during the same period were used as the control group to compare the general conditions of the two groups.The peripheral blood was collected for whole exome sequencing,literature review and rs1143634 locus of IL-1βgene,rs1805010 locus of IL-4R gene and rs763780 locus of IL-17 gene were screened according to quality standards.The genotype and allele frequency distribution of the three loci were compared,and the risk of RSA caused by different genotypes was analyzed.Results:There were no significant differences in age,body mass index(BMI),smoking history and the alcohol history between the two groups(P>0.05).The frequency of allele G gene at rs1805010 of IL-4R gene in the RSA group was significantly lower than that in the control group[(45.6%vs.52.8%),P<0.05].The proportion of A allele at rs1143634 of IL-1βgene in the RSA group was significantly higher than that in the control group[(4.4%vs.2.5%),P<0.05].In the allele inheritance model,the risk of RSA in the two groups with G allele at IL-4R rs1805010 was lower than that with the A allele[OR=0.747,95%CI(0.559,1.000)].The risk of RSA was higher in people with the A allele at IL-1βrs1143634 than that with the G allele[OR=0.298,95%CI(0.130,0.694)].Conclusions:The G allele at the rs1805010 locus of the IL-4R gene and the A allele at the rs1143634 locus of the IL-1βgene may be related to the pathogenesis of RSA among Han women in parts of Xinjiang.

关 键 词：复发性流产 基因多态性 白介素-1β 白介素-4R 白介素-17 全外显子组测序 

分 类 号：R321.3[医药卫生—人体解剖和组织胚胎学]