RGD Reference Report - No genetic association between alpha-2 macroglobulin I1000V polymorphism and Japanese sporadic Alzheimer's disease. - Rat Genome Database

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No genetic association between alpha-2 macroglobulin I1000V polymorphism and Japanese sporadic Alzheimer's disease.

Authors: Shibata, N  Ohnuma, T  Takahashi, T  Ohtsuka, E  Ueki, A  Nagao, M  Arai, H 
Citation: Shibata N, etal., Neurosci Lett. 2000 Aug 25;290(2):154-6.
RGD ID: 10046015
Pubmed: PMID:10936700   (View Abstract at PubMed)

Alpha-2 macroglobulin (A2M) is a serum pan-protease inhibitor that is related with the pathogenesis of Alzheimer's disease (AD) through its ability to mediate amyloid beta degradation. Recently, it has been reported that the I1000V polymorphism in A2M gene might increase the risk of AD. In the present study, we investigated this mutation in 95 healthy controls and in 111 sporadic AD cases by polymerase chain reaction-restriction fragment length polymorphism method in order to study this hypothesis in the Japanese AD population. Allelic frequencies with the I1000V polymorphism in the gene were 7.4 and 6.8% in the control and AD groups, respectively. Our results failed to demonstrate an association between this polymorphism and Japanese sporadic AD, and the A2M I1000V mutation does not seem to be a risk factor per se for sporadic AD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease no_associationIAGP 10046015DNA:polymorphism: :p.I1000V (human)RGD 
Alzheimer's disease no_associationISOA2M (Homo sapiens)10046015; 10046015DNA:polymorphism: :p.I1000V (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cognitive impairment no_associationIAGP 10046015DNA:polymorphism: :p.I1000V (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
A2m  (alpha-2-macroglobulin)

Genes (Mus musculus)
A2m  (alpha-2-macroglobulin)

Genes (Homo sapiens)
A2M  (alpha-2-macroglobulin)


Additional Information