维生素D水平及其受体基因的多态性与女童中枢性性早熟关系的研究  

Study on the relationship between serum 25-hydroxy vitamin D and VDR gene polymorphisms expression in girls with precocious puberty

作　　者：钟龙青 刘志强[1] 杨利[1] 刘发娣[1] 柯江维[1] Zhong Longqing;Liu Zhiqiang;Yang Li;Liu Fadi;Ke Jiangwei(Jiangxi Provincial Children's Hospital Laboratory;Jiangxi Provincal Children's Hospital Endocrinology).)

机构地区：[1]江西省儿童医院检验科

出　　处：《实验与检验医学》2019年第6期1002-1005,共4页Experimental and Laboratory Medicine

基　　金：江西省卫计委科技计划项目（2016124）

摘　　要：目的研究中枢性性早熟女童的维生素D浓度变化及VDR基因多态性的差异,了解维生素D影响女童性早熟的部分机制。方法将40例中枢性性早熟女童、40例健康对照组女童作为研究对象。运用化学发光法检测其血清中Vit D的浓度,同时应用Snapshot检测技术进行VDR多态性位点ApaI(rs7975232)、BsmI(rs1544410)、TaqI(rs731236)、FokI(rs2228570)的检测。结果1.中枢性性早熟患儿25-OH Vit D水平低于健康对照儿童,两组的差异有统计学意义(P<0.05)。2.⑴BsmI,FokI和TaqI三个位点分别对应的基因型CC、CT,AA、GA、GG,和AA、GA在两组中的分布差异均无统计学意义(分别χ^2=0.721,P=0.396;χ^2=3.414,P=0.181;χ^2=0.000,P=1.000)。⑵ApaI检测到的三种基因型CC,CA,AA在两组的分布差异有统计学意义(χ^2=9.833,P=0.007)。结论中枢性性早熟女童维生素D的水平低于健康女童,提示血清维生素D水平可能对女童中枢性性早熟发病有影响。ApaI(rs7975232)的不同基因型在两组中的分布差异有统计学意义,提示该基因序列的多态性可能在女童中枢性性早熟的发病机制中发挥作用。BsmI(rs1544410)、TaqI(rs731236)、FokI(rs2228570)的不同基因型以及等位基因在两组中的分布差异无统计学意义,提示其多态性可能与女童中枢性性早熟的发病无关。Objective To study changes of serum 25-hydroxy vitamin D and differences of VDR gene polymorphism expression in girls with precocious puberty.In order to realize some mechanism of vitamin D affects girls with central precocious puberty.Methods A total of 40 girls with central precocious puberty(CPP)and 40 control girls in Jiangxi provincial Children’s Hospital from July 1st,2016 to October 1st,2016 were enrolled.Serum level of vitamin D were estimated for all subjects.Participants were genotyped for ApaI(rs7975232),TaqI(rs731236),BsmI(rs1544410),and FokI(rs2228570)SNPs.Results 1.There was a significant difference in the mean serum25-OH Vit D concentration between the central precocious puberty group and the control group,45.51(35.06,54.24)nmol/L vs 60.25(52.19,72.95)nmol/L(P<0.05).2.There are three genotypes(AA、GA、GG)for FokI in both the central precocious puberty and the health group.No statistical difference was found in the two groups(χ^2=2.633,P=0.105).3.There are only two genotypes(AA、GA)for TaqI.The distribution of genotypes are the same in the two groups(χ^2=0.000,P=1.000).4.Two genotypes(CC、CT)for BsmI are found in the two groups.There are no significant deviations between the precocious puberty and the health group(χ^2=0.721,P=0.396).Significant deviations from the genotypes(CC、CA、AA)0f ApaI(rs7975232)were found in the central precocious puberty and health group(χ^2=9.833,P=0.007).Conclusion 25-hydroxyvitamin D insufficiency were highly prevalent in the precocious puberty.The significant deviations from the genotypes(CC,CA,AA)0f ApaI were found in the precocious puberty and health group,suggesting that VDR gene polymorphisms could be linked to higher susceptibility to precocious puberty.

关 键 词：维生素D VDR 基因多态性 性早熟 

分 类 号：R446.112[医药卫生—诊断学] R179[医药卫生—临床医学]