MEFV gene pathogenic variants: a risk factor for dysmenorrhea in the Turkish population

Abstract

Background/Aim The Mediterranean fever (MEFV) gene codes for protein pyrin, which is among the modulators of inflammasome activity in innate immune cells. It was suggested that there is a relation between MEFV variations and inflammatory diseases. The aim of this study was to investigate MEFV gene variations in the patients with primary dysmenorrhea. Methods The prevalence of common MEFV gene variations (M694V, M680I, V726A, E148Q and R202Q) was investigated in 145 young women with primary dysmenorrhea and 135 unrelated healthy controls. MEFV gene variations were genotyped using PCR-based RFLP assay. Results Number of childbirth and marriage were significantly lower in the study group than the controls, respectvely (p < 0.001, p = 0.001). Family history was statistically higher in the patient group (p < 0.001). In total, MEFV genotype and allele frequencies were significantly higher in patients than controls, respectively (p = 0.008 and p = 0.005, respectively). It was found that MEFV gene E148Q allele was more common in patient group (p = 0.039). MEFV R202Q A allele was higher in the patients than the controls (p = 0.045). A significant association was observed when the patients were compared with the controls according to R202Q variant AA versus GG+GA genotypes (p=0.020). Conclusion Our findings suggest that MEFV variations may be a risk factor for patients with dysmenorrhea in a Turkish cohort. Highlights There are very few studies in the literature regarding the relationship between pathological variants of MEFV and dysmenorrhea disease. The common MEFV mutations/variants were evaluated in primary dysmenorrhea patients. Family history was statistically higher in the patient group (p <.001). MEFV gene variations were found 52 (35.9%) in patients and 29 (21.5%2) in controls. MEFV gene allele frequency was significantly higher in-patient group than control (p =.005).