RGD Reference Report - Val64Ile polymorphism in the C-C chemokine receptor 2 is associated with reduced coronary artery calcification. - Rat Genome Database

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Val64Ile polymorphism in the C-C chemokine receptor 2 is associated with reduced coronary artery calcification.

Authors: Valdes, AM  Wolfe, ML  O'Brien, EJ  Spurr, NK  Gefter, W  Rut, A  Groot, PH  Rader, DJ 
Citation: Valdes AM, etal., Arterioscler Thromb Vasc Biol. 2002 Nov 1;22(11):1924-8.
RGD ID: 1581178
Pubmed: PMID:12426226   (View Abstract at PubMed)

OBJECTIVE: Studies in mice have shown that genetic disruption of monocyte chemotactic protein-1 or its receptor, the C-C chemokine receptor 2 (CCR2), inhibits atherosclerosis, but few data exist in humans to suggest that the monocyte chemotactic protein-1-CCR2 interaction is important in atherogenesis. A common polymorphism in the human CCR2 gene resulting in a substitution of isoleucine for valine (Val64Ile) has been associated with other disease phenotypes in humans. METHODS AND RESULTS: A cohort of first-degree relatives of persons with premature coronary artery disease was recruited and quantitatively phenotyped for the extent of CAC, a marker of coronary atherosclerosis, by using electron beam CT. The extent of CAC was significantly lower in subjects with the CCR2-Ile64 variant (Val/Ile and Ile/Ile genotypes) than in subjects carrying 2 Val64 alleles, even after adjustment for traditional risk factors. CONCLUSIONS: This study provides genetic evidence linking CCR2 with coronary atherosclerosis in humans.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
coronary artery disease  IAGP 1581178 RGD 
coronary artery disease  ISOCCR2 (Homo sapiens)1581178; 1581178 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Coronary artery calcification susceptibilityIAGP 1581178DNA:SNP:cds:p.V64I(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ccr2  (C-C motif chemokine receptor 2)

Genes (Mus musculus)
Ccr2  (C-C motif chemokine receptor 2)

Genes (Homo sapiens)
CCR2  (C-C motif chemokine receptor 2)


Additional Information