RGD Reference Report - The T 54 allele of the intestinal fatty acid-binding protein 2 is associated with a parental history of stroke. - Rat Genome Database

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The T 54 allele of the intestinal fatty acid-binding protein 2 is associated with a parental history of stroke.

Authors: Carlsson, M  Orho-Melander, M  Hedenbro, J  Almgren, P  Groop, LC 
Citation: Carlsson M, etal., J Clin Endocrinol Metab 2000 Aug;85(8):2801-4.
RGD ID: 1300312
Pubmed: PMID:10946885   (View Abstract at PubMed)
DOI: DOI:10.1210/jcem.85.8.6751   (Journal Full-text)

To test the hypothesis that the A/T polymorphism of the fatty acid-binding protein 2 gene (FABP2) is associated with impaired lipid metabolism and cardiovascular disease, we compared clinical characteristics and a parental history of cardiovascular disease between 213 sibling pairs discordant for the polymorphism. Siblings with an excess of the T54 allele had higher triglyceride (P = 0.002) and cholesterol (P = 0.019) concentrations than siblings with the A54 allele. Parents of offspring with the T54T and T54A genotypes reported an increased prevalence of stroke compared to parents of offspring with the A54A genotype (P = 0.007). In summary, we have confirmed the association of the FABP2 T54 allele with increased concentrations of cholesterol and triglycerides in genotype-discordant sibling pairs. We also present novel evidence that genetic variation in the FABP2 gene may increase susceptibility to stroke.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Stroke  IAGP 1300312DNA:missense mutation:cds:p.A54T (human)RGD 
Stroke  ISOFABP2 (Homo sapiens)1300312; 1300312DNA:missense mutation:cds:p.A54T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fabp2  (fatty acid binding protein 2)

Genes (Mus musculus)
Fabp2  (fatty acid binding protein 2, intestinal)

Genes (Homo sapiens)
FABP2  (fatty acid binding protein 2)


Additional Information