A variant allele of the Mediterranean-fever gene increases the severity of gout

Balkarli A., TEPELİ E., Balkarli H., Kaya A., Cobankara V.

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, vol.21, no.1, pp.338-346, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1111/1756-185x.12872
  • Journal Name: INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.338-346
  • Keywords: clinical course, familial Mediterranean fever, gout, MEFV gene variation, pathogenesis, RHEUMATOID-ARTHRITIS, BEHCETS-DISEASE, SUBCLINICAL INFLAMMATION, PERIODIC FEVER, MEFV MUTATIONS, URIC-ACID, COLCHICINE, CRYSTALS, INFLAMMASOMES, INTERLEUKIN-1
  • Akdeniz University Affiliated: Yes

Abstract

BackgroundGout 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.