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Mol Psychiatry ; 12(9): 870-80, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17579612

ABSTRACT

Variations in the S100beta gene may be instrumental in producing a continuum from mild cognitive decline to overt dementia. After screening 25 single nucleotide polymorphisms (SNPs) in S100beta, we observed association of the rs2300403 intron 2 SNP with poorer cognitive function in three independent populations. Moreover, we detected a significant association of this SNP with increased risk of developing dementia or Alzheimer's disease (AD) in six independent populations, especially in women and in the oldest. Furthermore, we characterised a new primate-specific exon within intron 2 (the corresponding mRNA isoform was called S100beta2). S100beta2 expression was increased in AD brain compared with controls, and the rs2300403 SNP was associated with elevated levels of S100beta2 mRNA in AD brains, especially in women. Therefore, this genetic variant in S100beta increases the risk of low cognitive performance and dementia, possibly by favouring a splicing event increasing S100beta2 isoform expression in the brain.


Subject(s)
Cognition Disorders/etiology , Dementia/complications , Dementia/genetics , Genetic Predisposition to Disease , Nerve Growth Factors/genetics , Polymorphism, Single Nucleotide , S100 Proteins/genetics , Age Factors , Aged , Aged, 80 and over , Community Health Planning , Denmark/epidemiology , Diseases in Twins , Female , Geriatric Assessment , Humans , Male , Neuropsychological Tests , Retrospective Studies , S100 Calcium Binding Protein beta Subunit , Severity of Illness Index , Sex Factors , Twin Studies as Topic
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