Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations

Abstract

Introduction: Patients with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean fever (MEFV) mutations comparing general population. To our knowledge, there is no report in this regard among Azeri Turkish children. In this study, we evaluated the prevalence of MEFV mutations and their clinical and laboratory correlations in Azeri Turkish children with HSP. Methods: In this case-control study, we included 40 unrelated patients from Azeri Turk origin diagnosed with HSP between January 2010 and March 2011. The control group consisted of 100 healthy unrelated subjects. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood leukocytes using standard protocols. Each sample was initially analyzed for the five common mutations (M694V, M694I, M680I, V726A and E148Q). Results: From 40 patients with HSP, 10 patients (25.0%) had one MEFV mutation. Both patient groups (with and without mutation) were similar regarding clinical manifestations and age at the onset of disease. Frequency of female gender was higher in patients with the mutation. MEFV mutations were found in 26.0% of control group among them 19.2% had V726A and 80.8% had E148Q mutation. There was no significant difference in total mutations between patients and controls. Frequency of M680I mutation was significantly higher in HSP patients than controls (P = 0.020). E148Q mutation was much higher in the control group than HSP patients, but the difference was not statistically significant (P = 0.053). Conclusion: There was no difference in the clinical spectrum of patients with and without MEFV mutation. M680I mutation may have a probable predisposing role for HSP.

Keywords: Henoch-Shonlein Purpura, MEFV Mutation, M680I, E148Q