RGD Reference Report - A polymorphism in the human apolipoprotein AI promoter region: a study in hypertriglyceridaemic patients. - Rat Genome Database

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A polymorphism in the human apolipoprotein AI promoter region: a study in hypertriglyceridaemic patients.

Authors: Needham, EW  Mattu, RK  Rees, A  Stocks, J  Galton, DJ 
Citation: Needham EW, etal., Hum Hered. 1994 Mar-Apr;44(2):94-9.
RGD ID: 1601187
Pubmed: PMID:7910586   (View Abstract at PubMed)

We examined the impact of a G-->A mutation at position -75 of the apolipoprotein AI gene promoter in subjects with hypertriglyceridaemia from two racial groups, Caucasians (n = 52) and Japanese (n = 19) compared to their controls (n = 56 and n = 21 respectively). The mutation was genotyped by the polymerase chain reaction and subsequent digestion using HpaII, and BstNI. We found no significant differences in allele frequency in either control-control or case-control comparisons in European and Japanese populations. Linkage disequilibrium was observed between the mutation and the common alleles of two restriction fragment length polymorphisms, MspI and SstI located in the APOA1 and APOC3 genes, respectively, in the Japanese population. On the basis of these results, the G-75-->A mutation is unlikely to be aetiological in predisposing to hypertriglyceridaemia.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypertriglyceridemia no_associationIAGP 1601187DNA:polymorphism:promoter:-75G>ARGD 
Hypertriglyceridemia no_associationISOAPOA1 (Homo sapiens)1601187; 1601187DNA:polymorphism:promoter:-75G>ARGD 

Objects Annotated

Genes (Rattus norvegicus)
Apoa1  (apolipoprotein A1)

Genes (Mus musculus)
Apoa1  (apolipoprotein A-I)

Genes (Homo sapiens)
APOA1  (apolipoprotein A1)


Additional Information