title: SORL1 is genetically associated with Alzheimer disease in a Japanese population.
abstract: A recent study reported that variants of the neuronal sortilin-related receptor gene (SORL1) increased the risk of late-onset Alzheimer disease (AD) in several populations. Here, we examined the risk effect in a large, well-characterized group of 437 late-onset AD patients and 451 control subjects in a Japanese population. Among eight single-nucleotide polymorphisms (SNPs) of the SORL1 gene for which association has been reported, we found a significant association for four of them, located between exon 24 and intron 37. This risk was evident in non-carriers of the apolipoprotein E-epsilon 4 allele, but not in its carriers. Our results support the evidence that genetic variants of SORL1 affect susceptibility to late-onset AD.
authors.affiliation: Department of Psychiatry, Osaka General Medical Center, Osaka, Japan. kimura@psy.med.osaka-u.ac.jp
authors.forename: Ryo
authors.initials: R
authors.lastname: Kimura
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Morihara
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Akatsu
authors.forename: Takashi
authors.initials: T
authors.lastname: Kudo
authors.forename: Kouzin
authors.initials: K
authors.lastname: Kamino
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Takeda
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human