title: The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations.
abstract: The cathepsin D gene (CTSD) exon 2 (C224T) polymorphism has been associated with an increased risk for sporadic Alzheimer's disease (AD), but with controversial findings. We studied CTSD exon 2 (C224T) and apolipoprotein E (APOE) genotype frequencies in 168 AD patients and 218 age-matched healthy controls from Southern Italy. No statistically significant differences were found in CTSD allele or genotype frequencies between AD patients and controls, and there were no interactions with sex or APOE genotype. Furthermore, comparing our results with the findings from other European populations, the CTSD*T allele frequency showed a statistically significant increasing trend from Northern to Southern regions of Europe in AD patients and controls (z=2.51, p<.01; z=4.02, p<.001, respectively), with a concomitant inverse trend for CTSD*C allele frequency. The regional differences in CTSD allele frequencies could be related to the different patterns of association between this polymorphism and AD in various European studies.
authors.affiliation: Department of Geriatrics, University of Foggia, Foggia, Italy. c.capurso@unifg.it
authors.forename: Cristiano
authors.initials: C
authors.lastname: Capurso
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Solfrizzi
authors.forename: Alessia
authors.initials: A
authors.lastname: D'Introno
authors.forename: Anna M
authors.initials: AM
authors.lastname: Colacicco
authors.forename: Sabrina A
authors.initials: SA
authors.lastname: Capurso
authors.forename: Franco
authors.initials: F
authors.lastname: Mastroianni
authors.forename: Maria
authors.initials: M
authors.lastname: Liaci
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Vendemiale
authors.forename: Antonio
authors.initials: A
authors.lastname: Capurso
authors.forename: Francesco
authors.initials: F
authors.lastname: Panza
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005060:Europe; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D004247:DNA; D002402:Cathepsin D