title: SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population.
abstract: Increasing evidence suggests a role for nerve growth factor (NGFB), brain-derived neurotrophic factor (BDNF), and their receptors, nerve growth factor receptor (NGFR), and neurotrophin tyrosine kinase receptors 1 and 2 (NTRK1 and NTRK2), in Alzheimer's disease (AD). However, genetic association between the neurotrophin system genes and AD has been poorly investigated. We genotyped 21 single nucleotide polymorphisms (SNPs) within these genes in a population of Italian AD patients and healthy controls. We found an allele-wise association of rs2072446 on NGFR with familial AD (fAD, p = 0.047), and a genotype-wise association of rs2289656 on NTRK2 with sporadic AD (sAD, p = 0.0036). rs6336 on NTRK1 resulted associated to early-onset sAD in both allele-wise (p = 0.028) and genotype-wise (p = 0.014) analysis, while rs1048218 on BDNF showed allele-wise association with late-onset sAD (p = 0.047). A trend to association with sAD and/or fAD was observed for other SNPs. Our results suggest that genetic variants of neurotrophin system genes might confer susceptibility to AD.
authors.affiliation: Department of Experimental Pathology, Medical Biotechnology, Infectious Diseases and Epidemiology, University of Pisa, Pisa, Italy.
authors.forename: Arianna
authors.initials: A
authors.lastname: Cozza
authors.forename: Erika
authors.initials: E
authors.lastname: Melissari
authors.forename: Paola
authors.initials: P
authors.lastname: Iacopetti
authors.forename: Veronica
authors.initials: V
authors.lastname: Mariotti
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Angela
authors.initials: A
authors.lastname: Conte
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.forename: Silvia
authors.initials: S
authors.lastname: Pellegrini
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020917:Receptor, trkA / Q000235:genetics*; D020813:Receptor, trkB / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D019208:Brain-Derived Neurotrophic Factor; D020917:Receptor, trkA; D020813:Receptor, trkB