PURPOSE Turner syndrome (TS) patients display considerable immune misregulation, and it is hypothesized that Vitamin D (VTD) activity may fluctuate according to Vitamin D receptor (VDR) polymorphisms and/or expression profile. To uncover a possible relationship between VDR genotype and clinical conditions in TS patients, we investigated two functional VDR variants (Cdx-2 and FokI) for allele and genotype frequencies, as well as expression profile in TS individuals versus healthy controls (HC). METHODS We performed a genetic association study including 100 TS patients and 116 HC. Genotyping for VDR Cdx-2 G > A (rs11568820) and FokI C > T (rs2228570) was performed using Taqman Genotyping Assays. VDR gene expression was also evaluated in 15 TS and 15 HC, using fluorogenic probes by qPCR. Statistical analyses were performed using nonparametric Mann-Whitney test, with a 5% significance level (p < 0.05) to uncover differences between groups. In addition, we investigated whether shifted VDR mRNA levels were associated with Cdx-2 and FokI variants in TS patients. RESULTS We detected a significantly higher frequency of T allele (p = 0.006) as well as T/T genotype (p = 0.01) for FokI in TS patients when compared to HC. When assessing VDR expression, we identified a downregulation in TS woman (- 2.84 FC) versus HC (p < 0.001). Furthermore, C/T (11.24 FC; p = 0.01) and T/T (9.20 FC; p = 0.01) FokI genotypes were upregulated when compared to C/C reference genotype. CONCLUSION TS patients show different distribution of FokI polymorphism. Downregulation of VDR gene expression may contribute to immunological imbalance in TS.

中文翻译：

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维生素 D 受体 (VDR) 基因多态性和表达谱影响特纳综合征的免疫失衡。

目的 Turner 综合征 (TS) 患者表现出相当大的免疫失调，据推测，维生素 D (VTD) 活性可能会根据维生素 D 受体 (VDR) 多态性和/或表达谱而波动。为了揭示 TS 患者的 VDR 基因型和临床状况之间可能存在的关系，我们研究了两种功能性 VDR 变体（Cdx-2 和 FokI）的等位基因和基因型频率，以及 TS 个体与健康对照 (HC) 的表达谱。方法 我们进行了一项遗传关联研究，包括 100 名 TS 患者和 116 名 HC。使用 Taqman Genotyping Assays 对 VDR Cdx-2 G > A (rs11568820) 和 FokI C > T (rs2228570) 进行基因分型。还在 15 个 TS 和 15 个 HC 中评估了 VDR 基因表达，使用荧光探针通过 qPCR。使用非参数 Mann-Whitney 检验进行统计分析，显着性水平为 5% (p < 0.05)，以揭示组间差异。此外，我们调查了 TS 患者的 VDR mRNA 水平是否与 Cdx-2 和 FokI 变体相关。结果 与 HC 相比，我们检测到 TS 患者中 FokI 的 T 等位基因 (p = 0.006) 以及 T/T 基因型 (p = 0.01) 的频率明显更高。在评估 VDR 表达时，我们发现 TS 女性 (- 2.84 FC) 与 HC (p < 0.001) 的下调。此外，与 C/C 参考基因型相比，C/T (11.24 FC; p = 0.01) 和 T/T (9.20 FC; p = 0.01) FokI 基因型上调。结论 TS患者表现出不同的FokI多态性分布。VDR 基因表达的下调可能导致 TS 的免疫失衡。