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J Rheumatol. 2000 Jul;27(7):1703-7.

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

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1
Heller Institute of Medical Science, Sheba Medical Center, Tel Hashomer, Israel.

Abstract

OBJECTIVE:

To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF).

METHODS:

Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity.

RESULTS:

Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control 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.

PMID:
10914855
[Indexed for MEDLINE]
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