孕妇VDR基因FokI位点多态性与胎儿孤立性股骨短小的相关性

Association of vitamin D receptor gene FokI polymorphisms in pregnant women with fetal isolated femur

目的:研究孕妇VDR基因FokI位点多态性与胎儿孤立性股骨短小的相关性。方法:选取2018年6月至2020年1月在温州市中心医院产检的120例胎儿孤立性股骨短小的孕妇作为观察组,随机选取120例产检无异常的孕妇作为对照组。PCR-焦磷酸测序法检测孕妇VDR基因FokI位点多态性。ELISA法检测孕妇血清及新生儿脐血25-羟维生素D水平。分析孕妇VDR基因FokI位点多态性与胎儿孤立性股骨短小的相关性。结果:观察组VDR基因FokI位点TT基因型37例,孕妇及新生儿脐血25-羟维生素D分别为(35.14±11.89)nmol/L和(35.42±11.78)nmol/L;TC型63例,孕妇及新生儿脐血25-羟维生素D分别为(43.28±14.00)nmol/L和(45.71±13.67)nmol/L;CC型20例,孕妇及新生儿脐血25-羟维生素D分别为(55.14±13.71)nmol/L和(55.85±16.07)nmol/L。对照组VDR基因FokI位点TT基因型28例,孕妇及新生儿脐血25-羟维生素D分别为(36.00±9.67)nmol/L和(38.71±9.57)nmol/L;TC型57例,孕妇及新生儿脐血25-羟维生素D分别为(44.57±10.73)nmol/L和(47.71±13.27)nmol/L;CC型35例,孕妇及新生儿脐血25-羟维生素D分别为(54.00±8.58)nmol/L和(57.57±10.17)nmol/L(P<0.05)。观察组携带T等位基因的比例(83.33%)大于对照组(70.83%)(P<0.05)。结论:孕妇VDR基因FokI位点多态性与胎儿孤立性股骨短小有一定的相关性,VDR基因FokI位点T基因可能是孤立性股骨短小发生的易感因素。

Objective:To explore the relationship between vitamin D receptor gene FokI polymorphisms in pregnant women and fetal isolated femur.Methods:120 pregnant women with isolated short femur in our hospital from June 2018 to January 2020 were selected as the observation group,while 120 pregnant women without abnormal prenatal examination were selected as the control group at the same time.The VDR gene FokI polymorphism was detected by PCR pyrosequencing.The levels of 25 hydroxyvitamin D in maternal serum and neonatal cord blood were detected by ELISA.Then analyze the relationship between VDR gene FokI polymorphism and fetal isolated short femur.Results:In the observation group,TT genotype at FokI site of VDR gene was 37 cases,25 hydroxyvitamin D in cord blood of pregnant women and newborns was(35.14±11.89)nmol/L and(35.42±11.78)nmol/L.TC genotype was 63 cases,25 hydroxyvitamin D in cord blood of pregnant women and newborns was(43.28±14.00)nmol/L and(45.71±13.67)nmol/L.CC genotype was 20 cases,25 hydroxyvitamin D in cord blood of pregnant women and newborns was(55.14±13.71)nmol/L and(55.85±16.07)nmol/L.In the control group,there was 28 cases in TT genotype while its 25 hydroxyvitamin D in cord blood of pregnant women and newborns was(36.00±9.67)nmol/L and(38.71±9.57)nmol/L.TC genotype was 57 cases,its 25 hydroxyvitamin D in cord blood of pregnant women and newborns was(44.57±10.73)nmol/L and(47.71±13.27)nmol/L.CC genotype was 35 cases,its 25 hydroxyvitamin D in cord blood of pregnant women and newborns was(54.00±8.58)nmol/L and(57.57±10.17)nmol/L.The content of 25 hydroxyvitamin D in cord blood of TT type pregnant women and newborns was the lowest,followed by TC type(P<0.05).The proportion of T allele in the observation group(83.33%)was higher than that in the control group(70.83%)(P<0.05).Conclusion:There is a certain correlation between VDR gene FokI polymorphism and fetal isolated short femur.T gene at FokI site of VDR gene may be a susceptible factor for the occurrence of isolated short femur.