RGD Reference Report - Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels. - Rat Genome Database

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Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels.

Authors: Wong, WM  Hawe, E  Li, LK  Miller, GJ  Nicaud, V  Pennacchio, LA  Humphries, SE  Talmud, PJ 
Citation: Wong WM, etal., Circ Res. 2003 May 16;92(9):969-75. Epub 2003 Apr 3.
RGD ID: 1578411
Pubmed: PMID:12676816   (View Abstract at PubMed)
DOI: DOI:10.1161/01.RES.0000069688.94567.7A   (Journal Full-text)

The impact of common variants in the apolipoprotein gene cluster (APOC3-A4-A5) on prospective coronary heart disease (CHD) risk was examined in healthy UK men. Of the 2808 men followed over 9 years, 187 had a clinically defined CHD event. Examination of 9 single nucleotide polymorphisms (SNPs) in this group revealed that homozygotes for APOA4 S347 had significantly increased risk of CHD [hazard ratio (HR) of 2.07 (95%CI 1.04 to 4.12)], whereas men homozygous for APOC3 1100T were protected [HR 0.28 (95%CI 0.09 to 0.87)]. In stepwise multiple regression analysis, after entering all the variants and adjusting for established risk factors APOA4 T347S alone remained in the model. Using all nine SNPs, the highest risk-estimate haplotypes carried APOA4 S347 and rare alleles of the two flanking intergenic markers. The protective effect of APOC3 1100T could be explained by negative linkage disequilibrium with these alleles. To determine the association of APOA4 T347S with apoAIV levels, the relationship was examined in 1600 healthy young European men and women. S347 homozygotes had significantly lower apoAIV plasma levels (13.64+/-0.59 mg/dL) compared with carriers of the T347 allele (14.90+/-0.12 mg/dL) (P=0.035). These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
APOA4HumanCoronary Disease susceptibilityIAGP DNA:missense mutation:cds:p.T347S (human)RGD 
Apoa4RatCoronary Disease susceptibilityISOAPOA4 (Homo sapiens)DNA:missense mutation:cds:p.T347S (human)RGD 
Apoa4MouseCoronary Disease susceptibilityISOAPOA4 (Homo sapiens)DNA:missense mutation:cds:p.T347S (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
APOA4HumanMyocardial infarction susceptibilityIAGP DNA:missense mutation:cds:p.T347S RGD 
Objects Annotated

Genes (Rattus norvegicus)
Apoa4  (apolipoprotein A4)

Genes (Mus musculus)
Apoa4  (apolipoprotein A-IV)

Genes (Homo sapiens)
APOA4  (apolipoprotein A4)

Objects referenced in this article
Gene APOA5 apolipoprotein A5 Homo sapiens

Additional Information