Abstract

OBJECTIVE
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, which encodes for the pyrin protein. The aim of this study was to explore the frequency and clinical significance of the R202Q (c.605G>A) polymorphism in exon 2 of the MEFV gene in a cohort of Turkish patients with FMF.
METHODS
The study included 191 patients with FMF and 150 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MEFV gene R202Q polymorphism.
RESULTS
The genotype and allele frequencies of R202Q polymorphism showed a statistically significant difference between FMF patients and controls (p<0.0001 and p=0.0004, respectively) and especially the homozygous AA genotype was significantly higher in FMF patients than healthy controls (p=0.0002; odds ratio=6.27; 95% CI=2.1-18.3). However no significant association was observed between clinical and demographic features of FMF patients and R202Qpolymorphism.
CONCLUSION
The results of this study showed that there was a high association between MEFV gene R202Q polymorphism and FMF. R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.

Links

Publisher Full Text

Authors

Yigit S, Karakus N, Tasliyurt T, Kaya SU, Bozkurt N, Kisacik B

Institution

Gaziosmanpasa University, Faculty of Medicine, Department of Medical Biology, Tokat, Turkey.

Source

Gene 506:1 2012 Sep 10 pg 43-5

MeSH

Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Base Sequence
Child
Child, Preschool
Cohort Studies
Cytoskeletal Proteins
DNA Primers
Exons
Familial Mediterranean Fever
Female
Gene Frequency
Genetic Association Studies
Genotype
Homozygote
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Turkey
Young Adult

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22771921