RGD Reference Report - Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. - Rat Genome Database

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Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia.

Authors: Tahvanainen, E  Pajukanta, P  Porkka, K  Nieminen, S  Ikavalko, L  Nuotio, I  Taskinen, MR  Peltonen, L  Ehnholm, C 
Citation: Tahvanainen E, etal., Arterioscler Thromb Vasc Biol. 1998 Nov;18(11):1810-7.
RGD ID: 5685676
Pubmed: PMID:9812922   (View Abstract at PubMed)

Familial combined hyperlipidemia (FCHL) is the most frequent familial lipoprotein disorder associated with premature coronary heart disease. However, no genetic defect(s) underlying FCHL has been identified. A linkage between FCHL and the apoA-I/C-III/A-IV gene cluster has been reported but not verified in other populations. A recent study identified FCHL susceptibility haplotypes at this gene cluster. To study whether such haplotypes are also associated with FCHL susceptibility in Finns, we studied 600 well-defined Finnish FCHL patients and their relatives belonging to 28 extended FCHL families by using haplotype, linkage, sib-pair, and linkage disequilibrium analyses. The genotypes of the MspI polymorphisms were associated with total serum cholesterol (P<0.01) and apoB (P<0.05) levels in spouses, which represent the general Finnish population. However, no evidence of direct involvement of any of these loci or their specific haplotypes in the expression of FCHL in the Finnish FCHL families was found.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
familial combined hyperlipidemia no_associationIAGP 5685676DNA:haplotype and snp:3' utr:g.3175G>C (human)RGD 
familial combined hyperlipidemia no_associationISOAPOC3 (Homo sapiens)5685676; 5685676DNA:haplotype and snp:3' utr:g.3175G>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypercholesterolemia no_associationIAGP 5685676DNA:haplotype and snp:3' utr:g.3175G>CRGD 
Hypertriglyceridemia no_associationIAGP 5685676DNA:haplotype and snp:3' utr:g.3175G>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Apoc3  (apolipoprotein C3)

Genes (Mus musculus)
Apoc3  (apolipoprotein C-III)

Genes (Homo sapiens)
APOC3  (apolipoprotein C3)


Additional Information