Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

doi:10.1016/S0002-9297(07)62944-9

Article

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

American journal of human genetics - 1 Nov 2000

Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian J C, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S

Abstract excerpt

Familial Mediterranean fever (FMF) is a recessively inherited disorder predisposing to renal amyloidosis and associated with mutations in MEFV, a gene encoding a protein of unknown function. Differences in clinical expression have been attributed to MEFV-allelic heterogeneity, with the M694V/M694V genotype associated with a high prevalence of renal amyloidosis. However, the variable risk for patients with...

Topics

Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Amyloidosis
Apolipoprotein E4
Apolipoproteins
Apolipoproteins E
Armenia

Child

Child, Preschool

Cohort Studies

Cytoskeletal Proteins

Familial Mediterranean Fever

Female

Genotype

Humans

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