Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Oksuz M. F., Karkucak M., Gorukmez O., OCAKOĞLU G., YILDIZ A., Ture M., ...More

REVISTA BRASILEIRA DE REUMATOLOGIA, vol.57, no.6, pp.501-506, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1016/j.rbre.2016.02.004
  • Journal Name: REVISTA BRASILEIRA DE REUMATOLOGIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.501-506
  • Keywords: Familial Mediterranean fever, MEFV gene, Polymorphism, TURKISH POPULATION, MUTATION FREQUENCY, TURKEY, AMYLOIDOSIS, CHILDREN, FMF, MULTICENTER, PHENOTYPE, REGION, RISK
  • Bursa Uludag University Affiliated: Yes

Abstract

Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease.