Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

Citation
Y. Shinar et al., Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever, J RHEUMATOL, 27(7), 2000, pp. 1703-1707
Citations number
25
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Rheumatology,"da verificare
Journal title
JOURNAL OF RHEUMATOLOGY
ISSN journal
0315-162X → ACNP
Volume
27
Issue
7
Year of publication
2000
Pages
1703 - 1707
Database
ISI
SICI code
0315-162X(200007)27:7<1703:GAOCGA>2.0.ZU;2-6
Abstract
Objective. To study genotype-phenotype correlation for the 4 most common ge notypes found among patients with familial Mediterranean fever (FMF). Methods. Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E148Q genotype, and 21 with V726A/V726A genotype w ere assessed for various clinical manifestations of FMF, and overall diseas e severity. Results. Patients with the M694V/M694V genotype were found to have an earli er age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to contr ol the disease compared to the other 3 genotypes. Conclusion. The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.