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Titre du document / Document title

Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia

Auteur(s) / Author(s)

TYSOE C. (1) ; GALINSKY D. (1) ; ROBINSON D. (2) ; BRAYNE C. E. (2) ; EASTON D. F. (2) ; HUPPERT F. A. (3) ; DENING T. (3) ; PAYKEL E. S. (3) ; RUBINSZTEIN D. C. (1) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) East Anglian Medical Genetics Service Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge, ROYAUME-UNI
(2) Institute of Public Health, University Forvie Site, Cambridge, ROYAUME-UNI
(3) Department of Psychiatry, University of Cambridge, Addenbrooke's Hospital, Cambridge, ROYAUME-UNI

Résumé / Abstract

The genetic factors which predispose individuals to dementia in old age have not been fully defined. Although the apolipoprotein E4 allele accounts for a proportion of the genetic risk for late-onset Alzheimer disease (AD), it is neither necessary nor sufficient to cause this disease. Recent suggestions that other loci are involved in dementia risk have been supported by findings of associations of genotypes at the alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) loci with AD. We investigated these loci in two community-based aged Cambridgeshire populations: the rural Ely population (cohort 1) comprised 60 pairs of demented and nondemented elderly individuals, with a mean age of 84.2 years; and the Cambridge city population (cohort 2) comprised 81 pairs all over age 84, with a mean age of 87.3 years. Since vascular risk factors are likely to impact on dementia risk, we also examined the angiotensin-converting enzyme (ACE) and methylenetetrahydrofolate reductase (MTHFR) genes as candidates. ACE, ACT, PS-1, and MTHFR genotype and allele frequencies were not significantly different in cases and matched controls. These data support the doubts which have been raised about the involvement of the PS-1 and ACT polymorphisms in late-onset dementia.

Revue / Journal Title

American journal of medical genetics    ISSN  0148-7299   CODEN AJMGDA 

Source / Source

1997, vol. 74, no2, pp. 207-212 (29 ref.)

Langue / Language

Anglais

Editeur / Publisher

Wiley-Liss, New York, NY, ETATS-UNIS  (1977-2002) (Revue)

Mots-clés anglais / English Keywords

Dementia

;

Genetic inheritance

;

α1-Antichymotrypsin

;

Methylenetetrahydrofolate reductase (NADPH)

;

Peptidyl-dipeptidase A

;

Allele

;

Genotype

;

Alzheimer disease

;

Human

;

Oxidoreductases

;

Enzyme

;

Peptidyl-dipeptidases

;

Peptidases

;

Hydrolases

;

Genetics

;

Nervous system diseases

;

Central nervous system disease

;

Cerebral disorder

;

Degenerative disease

;

Mots-clés français / French Keywords

Démence

;

Déterminisme génétique

;

α1-Antichymotrypsine

;

Methylenetetrahydrofolate reductase (NADPH)

;

Peptidyl-dipeptidase A

;

Allèle

;

Génotype

;

Démence Alzheimer

;

Homme

;

Péséniline

;

Oxidoreductases

;

Enzyme

;

Peptidyl-dipeptidases

;

Peptidases

;

Hydrolases

;

Génétique

;

Système nerveux pathologie

;

Système nerveux central pathologie

;

Encéphale pathologie

;

Maladie dégénérative

;

Mots-clés espagnols / Spanish Keywords

Demencia

;

Determinismo genético

;

α1-Antiquimotripsina

;

Methylenetetrahydrofolate reductase (NADPH)

;

Peptidyl-dipeptidase A

;

Alelo

;

Genotipo

;

Demencia Alzheimer

;

Hombre

;

Oxidoreductases

;

Enzima

;

Peptidyl-dipeptidases

;

Peptidases

;

Hydrolases

;

Genética

;

Sistema nervioso patología

;

Sistema nervosio central patología

;

Encéfalo patología

;

Enfermedad degenerativa

;

Localisation / Location

INIST-CNRS, Cote INIST : 17405, 35400006530332.0190

Nº notice refdoc (ud4) : 2658855



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