American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2008 · 56 citations · 8 references
Life SciencesGeneticsMolecular GeneticsDementiaHuman GeneticsNeurodegenerationAlzheimer DiseaseDementia Risk FactorsGenetic Risk FactorsMolecular Basis Of NeurodegenerationNeurodegenerative DiseasesNeurodegenerative DisordersAlzheimer Disease RiskDementia Risk LociGenetic PolymorphismsGenetic Variability AnalysisHaplotype-based Association AnalysisNeurodegeneration GeneticsNeurodegenerative GeneticsRisk Gene Variants
Granulin protein plays an important role in neurite outgrowth and neuronal survival. Recently, it was shown that mutations in granulin (GRN) gene cause tau-negative frontotemporal dementia supporting the idea that granulin is involved in neurodegeneration. Here we have investigated whether genetic variability in the GRN gene influences also the risk of developing Alzheimer's disease (AD). Genotyping of six single nucleotide polymorphisms (SNPs) in the GRN gene among 512 AD patients and 649 control subjects originating from Finland did not show significant association with AD. However, stratification according to gender revealed a significant male-specific allele, genotype and haplotype association between AD and GRN SNPs rs4792939, rs850713, and rs5848. These data suggest that genetic variability in the GRN gene may also increase the risk for developing AD in a gender-specific manner.
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Clinical diagnosis of Alzheimer's disease
Guy M. McKhann, David A. Drachman, Marshall Folstein et al. · Neurology · 1984 · 28K citations · Full text
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown et al. · Nature · 2006 · 2.1K citations
Life Sciences, Genetics, Neurology +12