母亲维生素D受体基因FokI位点多态性与先天性甲状腺功能减低症易感性的相关性参考  

Correlation between maternal vitamin D receptor gene FokI locus polymorphism and congenital hypothyroidism susceptibility

作　　者：刘燕 张学青 李倩 张意 徐冉 LIU Yan;ZHANG Xue-qing;LI Qian;ZHANG Yi;XU Ran(Department of Obstetrica XingtaiWomen and Children's Health,Xingtai 054000,Hebei,China;Department of Pediatrics,Xingtai Central Hospital,Xingtai 054000,Hebei,China)

机构地区：[1]邢台市妇幼保健院产科,河北邢台054000 [2]邢台市第三医院儿科,河北邢台054000

出　　处：《生物医学工程与临床》2024年第4期553-562,共10页Biomedical Engineering and Clinical Medicine

基　　金：邢台市科技局重点研发计划项目(2021ZC103)。

摘　　要：目的探讨母亲维生素D受体基因(VDR)FokI位点多态性与先天性甲状腺功能减低症(CH)易感性的相关性。方法选择2020年1月至2022年12月在邢台市妇幼保健院确诊的140例CH新生儿母亲(研究组),年龄22~37岁,平均年龄30.94岁;孕周35~41周,平均孕周39.02周;自然受孕126例;孕前体质量46.0~76.2 kg,平均体质量55.62 kg;产次1~3次,平均产次1.62次;顺产94例,剖宫产46例;居住在城市43例,农村97例;汉族138例,其他民族2例;受教育程度初中及以下38例,高中及中专34例,大专及以上68例;有不良妊娠史58例,无82例;有甲状腺疾病家族史11例,无129例;有孕期用药史16例,无124例;有孕期黄体酮使用史3例,无137例;孕期甲醛接触史8例,无132例;有孕期射线接触史9例,无131例。另选择140例健康新生儿母亲(对照组),年龄24~40岁,平均年龄28.95岁;孕周34~41周,平均孕周39.13周;自然受孕131例;孕前体质量45.5~77.0 kg,平均体质量56.12 kg;产次1~3次,平均产次1.68次;顺产113例,剖宫产27例;居住在城市63例,农村77例;汉族135例,其他民族5例;受教育程度初中及以下16例,高中及中专32例,大专及以上92例;有不良妊娠史79例,无61例;有甲状腺疾病家族史2例,无138例;有孕期用药史3例,无137例;有孕期黄体酮使用史15例,无125例;孕期甲醛接触史1例,无139例;有孕期射线接触史1例,无139例。收集新生儿母亲的相关因素并将其作为主要研究变量,采用酶联免疫吸附分析法检测新生儿脐静脉血25-羟维生素D[25(OH)D]水平,采用聚合酶链式反应-焦磷酸测序遗传分析计数(PCR-Pyrosequencing)法测定新生儿母亲血清VDR FokI位点多态性。应用单因素和多因素Logistic回归分析研究母亲VDR FokI位点多态性与CH易感性的相关性。结果对照组母亲VDR FokI位点基因型进行Hardy-Weinberg遗传平衡检验,以评价基因频率估计的可靠性,结果显示FokI位点基因型分布符合Hardy-Weinberg遗传平衡定律(χ^(2)=1Objective To explore the correlation between maternal vitamin D receptor gene(VDR) FokI locus polymorphism and congenital hypothyroidism(CH) susceptibility. Methods From January 2020 to December 2022, a total of 140 mothers of CH newborns were enrolled as study group, which aged 22-37 years old with mean age of 30.94 years old;gestational age of 35-41 weeks with mean of 39.02 weeks;126 cases of natural conception;pre-pregnancy body mass was 46.0-76.2 kg with mean body mass of 55.62 kg;number of births was 1-3 times with mean of 1.62 times;94 cases of spontaneous delivery and 46 of cesarean section;43 cases living in urban and 97 in rural;138 cases of Han nationality and 2 of other nationalities;38 cases of junior high school and below, 34 of high school and technical secondary school, and 68 of junior college and above;58 cases of adverse pregnancy history and 82 of non-adverse pregnancy history;11 cases of thyroid disease family history and 129 of non-thyroid disease family history;16 cases of medication history and 124 of non-medication history during pregnancy;3 cases of progesterone history and 137 of non-progesterone history during pregnancy;8 cases of formaldehyde exposure history and 132 of non-formaldehyde exposure history during pregnancy;9 cases of radiation exposure history and 131 of non-radiation exposure history during pregnancy. Another 140 healthy newborn mothers were enrolled and set as control group, which aged 24-40 years old with mean age of 28.95 years old;gestational age of 34-41 weeks with mean of 39.13 weeks;131 cases of natural conception;pre-pregnancy body mass was 45.5-77.0 kg with mean body mass of56.12 kg;number of births was 1-3 times with mean of 1.68 times;113 cases of spontaneous delivery and 27 of cesarean section;63 cases living in urban and 77 in rural;135 cases of Han nationality and 5 of other nationalities;16 cases of junior high school and below, 32 of high school and technical secondary school, and 92 of junior college and above;79 cases of adverse pregnancy history and 61

关 键 词：新生儿 先天性甲状腺功能减退症 维生素D受体基因 FokI位点多态性 母亲 

分 类 号：R722.1[医药卫生—儿科]