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Titolo:
Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population
Autore:
Verpillat, P; Bouley, S; Campion, D; Hannequin, D; Dubois, B; Belliard, S; Puel, M; Thomas-Anterion, C; Agid, Y; Brice, A; Clerget-Darpoux, F;
Indirizzi:
INSERM U535, F-94276 Le Kremlin Bicetre, France INSERM U535 Le Kremlin Bicetre France F-94276 Le Kremlin Bicetre, France INSERM U289, Paris, France INSERM U289 Paris FranceINSERM U289, Paris, France INSERM EPI 9906, Rouen, France INSERM EPI 9906 Rouen FranceINSERM EPI 9906, Rouen, France Hop La Pitie Salpetriere, Federat Neurol, Paris, France Hop La Pitie Salpetriere Paris France re, Federat Neurol, Paris, France Hop Pontchaillou, Serv Neurol, Rennes, France Hop Pontchaillou Rennes France ontchaillou, Serv Neurol, Rennes, France Hop Purpan, Serv Neurol, Toulouse, France Hop Purpan Toulouse FranceHop Purpan, Serv Neurol, Toulouse, France Ctr Hosp Univ, Serv Neurol, St Etienne, France Ctr Hosp Univ St Etienne France p Univ, Serv Neurol, St Etienne, France Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, Paris, France Hop La Pitie Salpetriere Paris France ytogenet & Embryol, Paris, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 9, anno: 2001,
pagine: 464 - 468
SICI:
1018-4813(200106)9:6<464:UOHITT>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECEPTOR-RELATED PROTEIN; APOLIPOPROTEIN-E RECEPTOR; LINKAGE DISEQUILIBRIUM; NEURITE OUTGROWTH; ASSOCIATION; POLYMORPHISM; LOCI; CHROMOSOME-12; EXON-3;
Keywords:
LRP; Alzheimer's disease; haplotype analysis; linkage disequilibrium; French population;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Verpillat, P INSERM U535, 80 Rue Gen Leclerc, F-94276 Le Kremlin Bicetre, France INSERM U535 80 Rue Gen Leclerc Le Kremlin Bicetre France F-94276
Citazione:
P. Verpillat et al., "Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population", EUR J HUM G, 9(6), 2001, pp. 464-468

Abstract

The low density lipoprotein receptor-related protein gene (LRP) is a good candidate gene for Alzheimer's Disease (AD). Its protein is involved in thephysiopathology of AD and has been found in senile plaques; on the other hand, LRP is located in 12q, a region in which genetic linkage to AD was reported. Two common polymorphisms, a tetranucleotide repeat in the 5 ' untranslated region and a single nucleotide polymorphism at position 766 in exon 3, were found to be associated with AD, but contradictory results were obtained in subsequent association studies. In the absence of clear hypotheses concerning the association of these polymorphisms with AD and their functional role, our objective was to test the association between AD and the two LRP polymorphisms in a large French case-control sample (274 Caucasian AD patients and 290 matched controls) using haplotype analysis. First, the separate study of each polymorphism showed no significant difference in genotype and allele frequencies between AD cases and controls. Second, strong linkage disequilibrium was found between alleles of the two polymorphisms in controls and in cases and the linkage disequilibrium between the 91 bp and C alleles were opposite in cases and in controls. Third, we found that the frequency of the 91-C haplotype was higher in cases than in controls, but thetype I error was 0.061, slightly higher than the conventional one of 5%. The haplotype frequencies did not vary significantly as a function of age and APOE epsilon4 status. One interest in this study is the use of the haplotype analysis, which can be used to combine information from several polymorphisms, taking into account their dependence.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 10:27:37