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A variant allele of the Mediterranean‐fever gene increases the severity of gout
Author(s) -
Balkarli Ayse,
Tepeli Emre,
Balkarli Huseyin,
Kaya Arif,
Cobankara Veli
Publication year - 2018
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.12872
Subject(s) - familial mediterranean fever , mefv , gout , medicine , allele , pyrin domain , missense mutation , gastroenterology , exon , allele frequency , gene mutation , genetics , mutation , gene , inflammasome , disease , inflammation , biology
Background Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever ( FMF ) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever ( MEFV ) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF ‐related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin‐1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout. Methods Seventy‐one patients diagnosed with gout (age: 61.73 ± 11.73 years, F/M: 14/57) and 50 healthy subjects (age: 61.48 ± 11.97, F/M: 10/40) as controls were included in this study. Results MEFV variant alleles were found in 24 (33.8%) of the gout patients and in 13 (26%) of the control subjects; the difference was not statistically significant. In the gout patients with a MEFV variant allele, the interval between the first two attacks was shorter ( P = 0.014), and the platelet count was higher ( P = 0.026), compared to the patients without a variant allele. In addition, the patients with a MEFV variant allele showed the higher incidence of tophus (8.5% vs . 1.4%) ( P = 0.005) and the higher number of attacks per year ( P = 0.001). Conclusion We propose that a variant allele of the MEFV gene may be responsible for the severity of gout.