Familial Mediterranean Fever is 3X more likely if poor Vitamin D Receptors (males)

Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever - Sept 2017

Bosn J Basic Med Sci. 2017 Sep 18. doi: 10.17305/bjbms.2017.2259

Turhan T1, Doğan HO, Boğdaycioğlu N, Eyerci N, Omma A, Sari İ, Yeşilyurt A, Karaaslan Y.

Department of Biochemistry, Ankara Numune Training and Research Hospital, Ankara, Turkey. amcaturhan@gmail.com.

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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.

A total of 38 patients were in acute attacks at the time of investigation. 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 patients with acute attack and those in attack-free period (p = 0.193). 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.s


Assessment of physical growth, some oxidative stress biomarkers and vitamin D status in children with Familial Mediterranean Fever – June 2018

Meta Gene, online 12 June 2018, https://doi.org/10.1016/j.mgene.2018.06.010

Moushira Zakia, , , El-Bassyounib, Hanaa Reyada, Walaa Yousefa, Eman Younessc, Ghada Mohamedd, Abeer Ramadand

Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever and inflammatory attacks. The aim of our study is to evaluate the growth parameters in Egyptian children with FMF and to investigate vitamin D status (serum 25-(OH) D) and some oxidative stress biomarkers during the attack free period in relation to the disease severity. Cases were classified into mild and moderate according to disease severity. Fifty Egyptian children with FMF (25 males and 25 females) and 35 age and sex-matched healthy controls were enrolled in this study. Serum paraoxonase1, malondialdehyde and Serum 25-(OH) D were estimated. Z-scores of weight, height and body mass index were calculated.

Of the 50 patients with FMF, 20 (40%) had mild degree of severity and 30 (60%) with moderate degree of severity. The homozygous genotypes mutations of M694I and M694I + M680I were the most frequent (52% and 26%, respectively).

Normal growth pattern was detected in both sexes. Serum PON1 and 25-(OH) D were significantly lower in FMF patients than the control group.

On the other hand, during the attack free periods serum level of MDA was significantly higher in the moderate group compared to the mild group while PON1 was significantly lower in moderate group. The study suggests persistence of oxidative stress in FMF children during the attack free period.

Vitamin D was significantly low in FMF patients. The study recommends the fortification with vitamin D and antioxidant parameters in the FMF patients.


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