Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever

Abstract

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.

Vitamin D receptor gene ApaI and FokI polymorphisms and its association with inflammation and oxidative stress in vitamin D sufficient Caucasian Spanish children

“…Moreover, the FokI SNP GG genotype-FF variant has been associated with cardiovascular disease in adult population (32). By contrast, other studies found no relationship between FokI SNPs and serum lipid levels (33,34). Taken together, our results suggest that the functional effects of FokI SNP might be gene and/or cell type-specific and may also be age-and gender-dependent.…”

Sex differences in vitamin D metabolism, serum levels and action

“…Among significant aspects influencing the status of vitamin D in the body, we should also mention obesity, low levels of physical activity (30)(31)(32) and smoking cigarettes (33) . For example, it was shown that obese men have a higher vitamin D deficiency index than men with normal body weight (27) .…”

Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients

“…[15] In FMF patients, it was reported that vitamin D levels were lower compared to controls and low vitamin D levels could also trigger the FMF attacks. [39–41] Although we found that vitamin D levels were low in FMF patients and healthy subjects, there was no significant difference in vitamin D levels between groups. Furthermore, there was also no correlation between vitamin D levels and osteopontin, CIMT and any atherosclerotic indices.…”