title: Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease.
abstract: A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls). Further studies provided conflicting results in different ethnic groups. In order to assess the involvement of the CALHM1 genetic variant on the risk of developing AD, we analyzed the genotype and allele distributions of the Pro86Leu polymorphism in 758 Italian subjects. Our results did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various populations.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Firenze, Italy. nacmias@unifi.it
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.forename: Ersilia
authors.initials: E
authors.lastname: Lucenteforte
authors.forename: Elena
authors.initials: E
authors.lastname: Cellini
authors.forename: Irene
authors.initials: I
authors.lastname: Piaceri
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Guarnieri
authors.forename: Valentina
authors.initials: V
authors.lastname: Bessi
authors.forename: Laura
authors.initials: L
authors.lastname: Bracco
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000145:classification / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D007930:Leucine / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011392:Proline / Q000235:genetics*
chemical_list: C530077:CALHM1 protein, human; D015220:Calcium Channels; D008562:Membrane Glycoproteins; D011392:Proline; D007930:Leucine