Effect of genetic modifiers on cerebral lesions in Fabry disease.
Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.
Altarescu
Gheona
G
Department of Internal Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.
Moore
David F
DF
Schiffmann
Raphael
R
D000293:Adolescent; D000328:Adult; D001798:Blood Proteins / Q000235:genetics; D002545:Brain Ischemia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002536:Cerebral Arteries / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002544:Cerebral Infarction / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004660:Encephalitis / Q000235:genetics; D000795:Fabry Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005165:Factor V / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III / Q000235:genetics; D018384:Oxidative Stress / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics
D001798:Blood Proteins; D015850:Interleukin-6; C026080:plasma protein Z; D005165:Factor V; D052250:Nitric Oxide Synthase Type III