The Journal of Pediatric Research

A negative correlation between MEFV mutations and allergic diseases []
. Ahead of Print: JPR-33407

A negative correlation between MEFV mutations and allergic diseases

Malik Ejder Yıldırım1, Hande Küçük KURTULGAN1, Hasan Kılıçgün2, Fatma Duksal3
1Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
2Department of Nutrition and Dietetics, Faculty of Health Sciences, Erzincan University, Erzincan, Turkey.
3Department of Pediatric Immunology and Allergy, Konya Training and Research Hospital, Konya, Turkey.

INTRODUCTION: Atopy is associated with a genetic predisposition to develop allergic diseases such as allergic rhinitis, asthma, and atopic dermatitis. In this study, we aimed to compare the prevalence of familial Mediterranean fever mutations in asthma and allergic rhinitis patients with controls in pediatric population and to analyse the positive or negative effect of MEFV mutations in the development of atopy.
METHODS: For the detection of FMF mutations, 88 pediatric patients (51 allergic asthma, 17 allergic rhinitis and 20 both asthma and allergic rhinitis cases) and 92 controls were included in our study. Total genomic DNA was extracted from peripheral blood samples using DNA isolation kit and patients and control group were screened for MEFV gene mutations using Reverse Hybridization procedure (Strip Assay).
RESULTS: There were 9 carriers (heterozygous mutation) in patient group. Control group had 21 carriers and 1 individual with compound heterozygous mutation. It was not detected any homozygous mutation in both two groups. The number of individuals with mutation were statistically higher in the control group than in the patients of asthma and allergic rhinitis (p=0.015) and the mutation number (allelic frequency) in the control group was also higher than in patients (p=0.014).
DISCUSSION AND CONCLUSION: We can suggest that FMF mutations are lesser in allergic rhinitis and asthma cases than in normal population. Asthma and allergic rhinitis may be more common in individuals without FMF mutation. It can be thought that MEFV gene mutations are effective to prevent allergic reactions on the basis of Th2 suppression.

Keywords: Allergic rhinitis, Asthma, FMF, MEFV gene, Mutation.




Corresponding Author: Malik Ejder Yıldırım, Türkiye


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