维生素 D 受体基因多态性与代谢综合征各组分的关系。
Relationship between Vitamin D Receptor gene polymorphisms and the components of metabolic syndrome.
机构信息
Nutrition Department, School of Public Health, University of São Paulo, Av. Dr. Arnaldo 715, São Paulo, SP CEP 01246-904, Brazil.
出版信息
Nutr J. 2013 Jul 15;12:96. doi: 10.1186/1475-2891-12-96.
BACKGROUND
The Vitamin D Receptor gene (VDR) is expressed in many tissues and modulates the expression of several other genes. The purpose of this study was to investigate the association between metabolic syndrome (MetSyn) with the presence of VDR 2228570 C > T and VDR 1544410 A > G polymorphisms in Brazilian adults.
METHODS
Two hundred forty three (243) individuals were included in a cross-sectional study. MetSyn was classified using the criteria proposed by National Cholesterol Educational Program--Adult Treatment Panel III. Insulin resistance and β cell secretion were estimated by the mathematical models of HOMA IR and β, respectively. The VDR 2228570 C > T and VDR 1544410 A > G polymorphisms were detected by enzymatic digestion and confirmed by allele specific PCR or amplification of refractory mutation.
RESULTS
Individuals with MetSyn and heterozygosis for VDR 2228570 C > T have higher concentrations of iPTH and HOMA β than those without this polymorphism, and subjects with recessive homozygosis for the same polymorphisms presented higher insulin resistance than those with the heterozygous genotype. There is no association among VDR 1544410 A > G and components of MetSyn, HOMA IR and β, serum vitamin D (25(OH)D₃) and intact parathormone (iPTH) levels in patients with MetSyn. A significant lower concentration of 25(OH)D₃ was observed only in individuals without MetSyn in the VDR 1544410 A > G genotype. Additionally, individuals without MetSyn and heterozygosis for VDR 2228570 C > T presented higher concentration of triglycerides and lower HDL than those without this polymorphism.
CONCLUSIONS
Using two common VDR polymorphism data suggests they may influence insulin secretion, insulin resistance an serum HDL-cholesterol in our highly heterogeneous population. Whether VDR polymorphism may influence the severity of MetSyn component disorder, warrants examination in larger cohorts used for genome-wide association studies.
背景
维生素 D 受体基因（VDR）在许多组织中表达，并调节其他几种基因的表达。本研究的目的是探讨巴西成年人代谢综合征（MetSyn）与 VDR 2228570 C > T 和 VDR 1544410 A > G 多态性之间的关系。
方法
本研究共纳入 243 名受试者，采用横断面研究。MetSyn 的分类采用国家胆固醇教育计划-成人治疗专家组 III 提出的标准。胰岛素抵抗和β细胞分泌分别通过 HOMA-IR 和β的数学模型进行估计。VDR 2228570 C > T 和 VDR 1544410 A > G 多态性通过酶消化检测，并通过等位基因特异性 PCR 或扩增抗性突变进行确认。
结果
患有 MetSyn 且 VDR 2228570 C > T 杂合的个体，其 iPTH 和 HOMA-β的浓度高于无此多态性的个体，而相同多态性的隐性纯合子的胰岛素抵抗高于杂合子基因型的个体。VDR 1544410 A > G 与 MetSyn 的成分、HOMA-IR 和β、MetSyn 患者的血清维生素 D（25（OH）D₃）和完整甲状旁腺激素（iPTH）水平之间没有关联。仅在无 MetSyn 的 VDR 1544410 A > G 基因型个体中观察到 25（OH）D₃浓度显著降低。此外，无 MetSyn 且 VDR 2228570 C > T 杂合的个体，其甘油三酯浓度较高，HDL 浓度较低，而无此多态性的个体则相反。
结论
使用两种常见的 VDR 多态性数据表明，它们可能影响我们高度异质人群的胰岛素分泌、胰岛素抵抗和血清 HDL-胆固醇。VDR 多态性是否会影响 MetSyn 成分紊乱的严重程度，需要在更大的用于全基因组关联研究的队列中进行检查。
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