Genome-wide association studies applied to the discovery of new genetic risk factors of Alzheimer's disease
type: Dataset
description: Dementia is a syndrom caused by several brain diseases progressively deteriorating cognitivefunctions and occurs more frequently in the elderly. The increased number of patients withdementia due to the ageing of the general population and the high cost of care add up tomake dementia a concerning public health issue.Alzheimer’s disease (AD) is the most common form of dementia. It is often diagnosedafter 65 years old and has a strong genetic component. Familial forms exist and are mainlycaused by mutations in the amyloid-b protein precursor, presenilin 1 and presenilin 2 genes.However, the vast majority of cases result from the complex interaction of environmental factors with susceptibility genes.Using a candidate gene approach, numerous genes associated with AD risk were identified,but due to technical and methodological problems, only the apoliprotein E (APOE) genewas replicated. Genome-wide association studies (GWAS) aim to identify frequent geneticvariants associated with disease risk in a hypothesis-free manner. Starting 2009, severalconsortia aiming to perform this type of analyses in the field of AD robustly identified fournew genes associated with AD risk, CLU, PICALM, CR1 and BIN1. However, these genes puttogether only explain a small proportion of the total genetic variance of AD and the searchfor new susceptibility genes remains an important goal for AD research.In this work, we first tried to replicate the results of the top genes reported using thecandidate gene approach, using GWAS data from the European Alzheimer’s Disease Initiative(EADI). Most of these genes showed weak levels of association. Using GWAS, we were ableto identify 19 new genes associated with AD risk besides APOE, including 11 that had notbeen reported by previous studies, first through an informal collaboration between consortia,then under the name of International Genomics of Alzheimer’s Disease Project (IGAP).Assuming that use of endophenotypes related to AD would be relevant for the…
identifier: NNT: 2013LIL2S011
issued: 2026-05-05T20:13:34.161311
language: fr
modified: 2026-05-05T20:13:34.161315
contact point: Organization
  fn: CCSD
keyword: alzheimers-disease
keyword: demence
keyword: dementia
keyword: epidemiologie-genetique
keyword: epidemiologie-moleculaire
keyword: etudes-dassociation-pangenomique
keyword: genome-wide-association-studies
keyword: infoeu-reposemanticsdoctoralthesis
keyword: maladie-dalzheimer
keyword: sdvmheplife-sciences-q-biohuman-health-and-pathology
keyword: theses
landing page: https://theses.hal.science/tel-00966817

Genome-wide association studies applied to the discovery of new genetic risk factors of Alzheimer's disease
type: Distribution
format: HTML
issued: 2026-05-05T20:13:34.164149
modified: 2026-05-05T20:13:34.143412
access URL: https://theses.hal.science/tel-00966817

test_moissonnage_selune
type: Agent