title: Sorl1 as an Alzheimer's disease predisposition gene?
abstract: 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.
authors.affiliation: Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz., USA.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Webster
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Myers
authors.forename: John V
authors.initials: JV
authors.lastname: Pearson
authors.forename: David W
authors.initials: DW
authors.lastname: Craig
authors.forename: Diane
authors.initials: D
authors.lastname: Hu-Lince
authors.forename: Keith D
authors.initials: KD
authors.lastname: Coon
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Zismann
authors.forename: Thomas
authors.initials: T
authors.lastname: Beach
authors.forename: Doris
authors.initials: D
authors.lastname: Leung
authors.forename: Leslie
authors.initials: L
authors.lastname: Bryden
authors.forename: Rebecca F
authors.initials: RF
authors.lastname: Halperin
authors.forename: Lauren
authors.initials: L
authors.lastname: Marlowe
authors.forename: Mona
authors.initials: M
authors.lastname: Kaleem
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Huentelman
authors.forename: Keta
authors.initials: K
authors.lastname: Joshipura
authors.forename: Douglas
authors.initials: D
authors.lastname: Walker
authors.forename: Christopher B
authors.initials: CB
authors.lastname: Heward
authors.forename: Rivka
authors.initials: R
authors.lastname: Ravid
authors.forename: Joseph
authors.initials: J
authors.lastname: Rogers
authors.forename: Andreas
authors.initials: A
authors.lastname: Papassotiropoulos
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Eric M
authors.initials: EM
authors.lastname: Reiman
authors.forename: Dietrich A
authors.initials: DA
authors.lastname: Stephan
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D005819:Genetic Markers; D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human