Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. Seventy patients had no attack (group 1), 30 had 1-2 attacks (group 2), and 23 had 3 or more attacks (group 3) within last three months. Serum 25(OH)D3 concentrations were determined using liquid chromatography-tandem mass spectrometry. BsmI, FokI, and TaqI polymorphisms were analyzed by a competitive allele specific polymerase chain reaction assay (KASPar). Serum lipid parameters were measured with enzymatic colorimetric methods. 25(OH)D3 concentrations were lower in FMF patients compared to controls (p < 0.001). No difference was observed in 25(OH)D3 concentration between groups 1, 2, and 3. The distributions of FokI and TaqI genotypes were not significantly different between FMF patients and controls. There was a significant difference in the distribution of AA BsmI genotype between male FMF patients and male controls. Increased concentrations of triglycerides (p = 0.012) and decreased concentrations of high-density lipoprotein cholesterol [HDL-C] (p = 0.006) were found in FMF patients compared to controls. Although lower 25(OH)D3 concentrations were observed in FMF patients versus controls, no association was determined between FMF attack frequency and 25(OH)D3 concentrations. We showed that the AA genotype of BsmI polymorphism is associated with FMF in males but not in females. The effects of decreased HDL-C and increased triglyceride concentrations on cardiovascular events in FMF patients should be further investigated.

中文翻译：

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家族性地中海热中维生素D的状态，血清脂质浓度和维生素D受体（VDR）基因多态性。

维生素D（VitD）对于调节炎症过程至关重要，而VitD缺乏症与几种慢性炎症性疾病有关。我们旨在调查家族性隐性自身炎性疾病家族性地中海热（FMF）患者的血清25（OH）D3浓度，脂质参数和三种已知的VDR多态性（BsmI，FokI和TaqI）。该研究包括123名FMF患者和105名对照。在最近三个月内，有70例患者没有发作（第1组），有30例患者发作了1-2次（第2组），有23例患者发作了3次或以上（第3组）。使用液相色谱-串联质谱法测定血清25（OH）D3浓度。通过竞争性等位基因特异性聚合酶链反应分析（KASPar）分析了BsmI，FokI和TaqI多态性。用酶比色法测量血清脂质参数。与对照组相比，FMF患者的25（OH）D3浓度较低（p <0.001）。第1、2和3组之间的25（OH）D3浓度未见差异。FMFI和TaqI基因型的分布在FMF患者和对照组之间无显着差异。男性FMF患者和男性对照之间AA BsmI基因型的分布存在显着差异。与对照组相比，在FMF患者中发现甘油三酸酯浓度升高（p = 0.012）和高密度脂蛋白胆固醇[HDL-C]浓度降低（p = 0.006）。尽管在FMF患者中观察到的25（OH）D3浓度较低，但在FMF发作频率与25（OH）D3浓度之间没有关联。我们表明，BsmI多态性的AA基因型与男性的FMF相关，而与女性无关。HDL-C降低和甘油三酸酯浓度升高对FMF患者心血管事件的影响应进一步研究。