Authors: Nuran Turkcapar Timur Tuncalı Sim Kutlay Basak Yalcin Burhan Gulay Kinikli Sehsuvar Erturk Murat Duman
Publish Date: 2006/11/11
Volume: 27, Issue: 6, Pages: 545-551
Abstract
To evaluate the effects of MEFV genotypes and the major histocompatibility complex class I chainrelated gene A MICA triplet repeat polymorphism on the severity and clinical features of familial Mediterranean fever FMF and amyloidosis in a group of Turkish FMF patientsWe evaluated 105 adult FMF patients with or without amyloidosis 33 and 72 respectively along with 107 healthy controls who were neither related to the patients nor had a family history of FMF or Behcet’s disease After recording the demographic and clinical data the predominant mutations in the MEFV gene locus M694V M680I V726A M694I and E148Q were investigated by direct sequencing MICA transmembrane polymorphisms in exon 5 were studied by vertical gel electrophoresis and fragment analysis of the amplicons obtained from MICA locus with appropriate primersEarlier age at onset increased frequency of attacks arthritis attacks erysipelaslike erythema increased severity scores and amyloidosis were significantly more common in M694V homozygous patients compared to the patients not M694V homozygous P = 0005 OR 455 P = 0001 OR 760 P = 0003 OR 457 P = 0002 OR 758 P = 0004 OR 515 and P = 0018 OR 333 respectively We did not detect any modifying effects of MICA alleles as an independently risk factor on the amyloidosis development However when we examined the effects of MICA alleles on the course of the disease and development of amyloidosis in the M694V homozygous patients A5 allele had a protective effect against the development of amyloidosis P = 0038 ORadj 026 with A5 and P = 0009 ORadj 442 without A5Though the effects of the MEFV genotypes seem clear there are definitely other modifying factors or genes on the development of amyloidosis and on the course of the disease For example some MICA alleles have a protective effect on the prognostic factors in FMF
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