Neuro-degenerative diseases · 2007
Sorl1 as an Alzheimer's disease predisposition gene?
Сравнительное исследованиеСтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Webster Jennifer A, Myers Amanda J, Pearson John V, Craig David W, Hu-Lince Diane, Coon Keith D, Zismann Victoria L, Beach Thomas, Leung Doris, Bryden Leslie, Halperin Rebecca F, Marlowe Lauren, Kaleem Mona, Huentelman Matthew J, Joshipura Keta, Walker Douglas, Heward Christopher B, Ravid Rivka, Rogers Joseph, Papassotiropoulos Andreas, Hardy John, Reiman Eric M, Stephan Dietrich A
Аннотация
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressively disabling impairments in memory, cognition, and non-cognitive behavioural symptoms. Sporadic AD is multifactorial and genetically complex. While several monogenic mutations cause early-onset AD and gene alleles have been suggested as AD susceptibility factors, the only extensively validated susceptibility gene for late-onset AD is the apolipoprotein E (APOE) epsilon4 allele. Alleles of the APOE gene do not account for all of the genetic load calculated to be responsible for AD predisposition. Recently, polymorphisms across the neuronal sortilin-related receptor (SORL1) gene were shown to be significantly associated with AD in several cohorts. Here we present the results of our large case-control whole-genome scan at over 500,000 polymorphisms which presents weak evidence for association and potentially narrows the association interval.