An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population.
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.
Viswanathan
Jayashree
J
Department of Neurology, Clinical Research Centre/Mediteknia, University Hospital and University of Kuopio, Finland.
Mäkinen
Petra
P
Helisalmi
Seppo
S
Haapasalo
Annakaisa
A
Soininen
Hilkka
H
Hiltunen
Mikko
M
D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005387:Finland; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000077153:Progranulins; D012727:Sex Characteristics; D055815:Young Adult
D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins