Mevalonate kinase gene mutations and their clinical correlations in Behcet's disease

Aim Genetics is suggested to play a role in the development of Behcet's disease (BD). Shared phenotipic features requires an approach to differential diagnosis from periodic febrile syndromes. We planned to study for mevalonate kinase (MVK) as a candidate for a susceptibility gene for Behcet's disease. Method Consecutive Behcet patients and apperently healthy subjects were included. Severity score of Behcet disease was calculated. Genotyping of mevalonate kinase gene was performed by polymerase chain reaction/sequence-based typing technique. Results Fifty BD patients (median age: 38.30 +/- 11.06years) and 51 controls (median age: 33.88 +/- 12.47 years) were recruited. Three types of mutations have been found: first, a single nucleotide polymorphism (SNP) c.769-38C>T (rs35191208) in 21 of 50 BD patients and in 15 of 51 controls. Both groups were comparable for the frequency of c.769-38C>T (0.05). In all of the cases with c.769-38C>T, a second SNP, c885+24G>A (rs2270374) was also present (previously reported to be in linkage disequilibrium with the first SNP). A third SNP, c.769-7T>G (rs104895331) was found in three of 50 BD patients and in one of the control group. We found this SNP together with c769-38C>T and c.885+24G>A. The neurological involvement was found to be more frequent in the BD patients with c.769-3C>T when compared to the BD patients without this polymorphism (P=0.012). Conclusion Our results suggested that the effects of MVK mutations in Behcet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement. However, these results need confirmation in larger study populations and in different ethnic groups.