孕妇VDR基因Fok I位点多态性与脐血25-羟维生素D的关系研究  

Relationship between Fok I polymorphism of VDR gene and unbilical cord blood 25-hydroxyvitamin D in pregnant women

作　　者：陈杨萍 徐峰 林蒙蒙 戴晓晓 胡晓霞 张烨 CHEN Yangping;XU Feng;LIN Mengmeng;DAI Xiaoxiao;HU Xiaoxia;ZHANG Ye(Department of Gynecology and Obstetrics,Wenzhou Central Hospital,Wenzhou 325000,China)

机构地区：[1]温州市中心医院妇产科,325000

出　　处：《浙江医学》2021年第9期955-958,963,共5页Zhejiang Medical Journal

基　　金：温州市基础性医疗卫生科技项目(Y20190010)。

摘　　要：目的探讨孕妇维生素D受体(VDR)基因Fok I位点多态性与脐血25-羟维生素D的关系。方法选取2017年6月至2019年5月在温州市中心医院产检的846例孕妇为研究对象,均为单胎。采用PCR-焦磷酸遗传分析技术检测孕晚期孕妇血液中VDR基因Fok I位点多态性;ELISA法检测孕晚期孕妇血清及新生儿脐血25-羟维生素D水平。分析两者的关系。结果846例孕妇中,VDR基因Fok I位点TC基因型386例,占45.63%,该基因型组孕妇血清25-羟维生素D水平为(45.32±9.17)nmol/L,脐血25-羟维生素D水平为(45.51±9.70)nmol/L;TT基因型组为206例,占24.35%,血清25-羟维生素D水平为(39.31±11.91)nmol/L,脐血25-羟维生素D水平为(38.81±10.53)nmol/L;CC基因型组为254例,占30.02%,血清25羟维生素D水平为(55.53±12.51)nmol/L,脐血25-羟维生素D水平为(55.92±11.79)nmol/L。VDR基因TT型的孕妇血清及脐血25-羟维生素D水平<TC型<CC型(均P<0.05),TT型和TC型均显示25-羟维生素D水平不足。结论孕妇VDR基因Fok I位点TT基因型的脐血25-羟维生素D的浓度最低,TC型次之。建议孕妇行VDR基因Fok I位点及血清25-羟维生素D的检测,预防下一代先天性佝偻病的发生。Objective To investigate the relationship between Fok I polymorphism of VDR gene and unbilical cord blood 25-hydroxyvitaminD[25-(OH)D].Methods A total of 846 pregnant women and their newborns were enrolled fromJune 2017 to May 2019.The Fok I polymorphism of VDR gene in maternal serum was detected by PCR-pyrophosphate sequencing,meanwhile the 25-(OH)D levels in maternal and newborn cord blood were detected by ELISA.The relationship between Fok I polymorphism and cord blood 25-(OH)D level was analyzed.Results Among 846 pregnant women,there were 386 cases(45.63%)in TC genotype group of VDR gene Fok I locus,206 cases(24.35%)in TT genotype,and 254 cases(30.02%)in CC genotype.The average concentration of maternal serum 25-(OH)D in TC,TT and CC genotype groups were(45.30±9.17)nmol/l,(39.31±11.91)nmol/L and(55.53±12.51)nmol/L,respectively(P<0.05).While the average concentration of cord blood 25-(OH)D were(45.51±9.70)nmol/L,(38.81±10.53)nmol/L and(55.92±11.79)nmol/L,respectively(P<0.05).Conclusion The concentration of 25-(OH)D in umbilical cord blood is the lowest in pregnant women with VDR Fok I locus TT genotype,followed by CT genotype.It is suggested that pregnant women should be tested for Fok I site of VDR gene and serum 25-(OH)D to prevent the occurrence of congenital rickets in their infants.

关 键 词：维生素D受体基因 Fok I位点 脐血 维生素D 先天性佝偻病 

分 类 号：R714[医药卫生—妇产科学]