Background/Aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D₃ were correlated with common VDR polymorphisms (ApaI, BsmI, FokI, and TaqI) in 98 subjects of a Greek homogeneous rural population. Methods: 25(OH)D₃ concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis. Results: Subjects carrying either the B BsmI (OR: 0.52, 95% CI: 0.27–0.99) or t TaqI (OR: 2.06, 95%: 1.06–3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42–9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07–12.2), and 7-fold (OR: 6.92, 95% CI: 1.68–28.5) increased risk for low 25(OH)D₃ levels, respectively. Conclusions: Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.
Lifestyle Genomics

中文翻译：

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希腊农村人口中维生素 D 受体基因多态性与血清维生素 D 水平的关联（Velestino 研究）

背景/目的：即使在阳光充足的地区，维生素 D 缺乏症也出现了惊人的增长，这凸显了需要更好地了解维生素 D 内分泌系统的遗传背景以及维生素 D 受体 (VDR) 基因多态性的分子机制。_{在这项研究中，25(OH)D 3}的血清水平与希腊同质农村人口的 98 名受试者的常见 VDR 多态性（ ApaI、BsmI、FokI和TaqI ）相关。方法：采用超高效液相色谱法测定25(OH)D ₃浓度，通过定量实时PCR和扩增子高分辨率熔解分析鉴定VDR基因多态性。结果：携带 B BsmI (OR: 0.52, 95% CI: 0.27–0.99) 或 t TaqI (OR: 2.06, 95%: 1.06–3.99) 等位基因的受试者发生维生素 D 缺乏症的风险是参考等位基因的两倍。此外，携带 1、2 或所有 3 种这些基因型（BB/Bb、Tt/tt 和 FF）的受试者表现出 2 倍（OR：2.04，95% CI：0.42–9.92）、3.6 倍（OR： 3.62, 95% CI: 1.07–12.2) 和 7 倍 (OR: 6.92, 95% CI: 1.68–28.5) 分别增加了低 25(OH)D ₃水平的风险。结论：我们的研究结果揭示了可能调节维生素 D 浓度的特定 VDR 基因多态性的累积效应，部分解释了阳光充足地区维生素 D 缺乏的悖论，对精准医学具有重要意义。
生活方式基因组学