Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients

Akpolat T., Ozkaya O., ÖZEN S.

GENE, vol.492, no.1, pp.285-289, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 492 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.1016/j.gene.2011.10.012
  • Journal Name: GENE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.285-289
  • Keywords: Autoinflammatory diseases, MEFV, FAMILIAL MEDITERRANEAN FEVER, GENOTYPE-PHENOTYPE CORRELATION, GENE-MUTATIONS, MEFV MUTATIONS, DISEASE, TURKEY, POLYMORPHISMS, ASSOCIATION, CHILDHOOD, SEVERITY
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Secondary amyloidosis is the most severe complication of familial Mediterranean fever (FMF). Since the M694V mutation was associated with clinical severity, it was expected to be associated with amyloidosis as well. However, a number of contradicting reports have been published, especially pertinent to Turkish patients nearly 10 years ago. The aim of this study was to analyze recent data regarding the association between M694V mutation and amyloidosis among FMF patients in Turkey.