title: Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels.
abstract: OBJECTIVE
  To analyse the most common MEFV (Mediterranean fever gene) mutations and polymorphisms in an elderly population free of chronic inflammatory disease (n=164), and explore possible associations between hsCRP (high sensitive C-reactive protein) and RF (rheumatoid factor) levels with MEFV mutations and polymorphisms.
  
  
  METHODS
  An elderly group free of chronic inflammatory disease was chosen among the outpatients of the division of geriatric medicine. Total genomic DNA was isolated from blood, and PCR-RFLP analysis was performed using established protocols. Sera were analyzed for hsCRP and RF levels.
  
  
  RESULTS
  The frequencies for 694V (1.8%), 694I (1.8%), 680I (0.6%), 726A (2.1%) and 148Q (5%) alleles were found to be similar to Turkish historic controls, with a carrier frequency of 1/4. Further analyses with rheumatoid factor (RF) levels and mutations revealed a significant association between the presence of the E148Q polymorphism with increased RF levels (>15 mg/dl) (xi2= 7.358, p=0.007, OR=5.41 95% CI 1.41-20.64).
  
  
  CONCLUSIONS
  Common MEFV mutations and polymorphisms were similarly represented among the elderly population compared to historic controls. On the other hand, a significant association was found between the presence of E148Q polymorphism and increased RF levels. This suggests that the previously noted increased RF levels in elderly populations may somehow be related to the now described association of RF with MEFV E148Q polymorphism.
authors.affiliation: Department of Molecular Biology and Genetics, and 2Molecular Biology and Biotechnology Research Center, Istanbul Technical University, Istanbul, Turkey. turanlie@itu.edu.tr
authors.forename: E T
authors.initials: ET
authors.lastname: Turanli
authors.forename: T
authors.initials: T
authors.lastname: Beger
authors.forename: D
authors.initials: D
authors.lastname: Erdincler
authors.forename: A
authors.initials: A
authors.lastname: Curgunlu
authors.forename: S
authors.initials: S
authors.lastname: Karaman
authors.forename: E
authors.initials: E
authors.lastname: Karaca
authors.forename: S
authors.initials: S
authors.lastname: Dasdemir
authors.forename: M
authors.initials: M
authors.lastname: Bolayirli
authors.forename: H
authors.initials: H
authors.lastname: Yazici
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D012217:Rheumatoid Factor / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D012217:Rheumatoid Factor