title: Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.
abstract: Recent studies have reported a genetic association between the 73 G/A polymorphism within exon 1 of the cystatin C gene and Alzheimer's disease (AD) with conflicting results. To further investigate the proposed association and to clarify the role of CST3 as risk factor for AD, we analyzed the genotype and allele frequency distribution of CST3 G73A and apolipoprotein (ApoE) gene polymorphisms in 243 Italian patients with AD and 186 controls. Patients with AD were consecutively collected among the outpatients from the Neurology Department at the University of Florence. All 429 subjects were genotyped for CST3 and ApoE polymorphisms. After stratification according to age, the GG frequency resulted slightly higher in younger (<65 years) cases, but far from statistically significant. There was also no evidence of a statistical interaction between CST3 and ApoE polymorphisms. In conclusion, our data suggest that the CST3 genetic variant is not a susceptibility factor in AD, nor mitigate the effect of the ApoE varepsilon4 allele in the risk of developing AD.
authors.affiliation: Department of Neurological and Psychiatric Sciences, Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Viale Pieraccini 6, Italy. nacmias@unifi.it
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.forename: Elena
authors.initials: E
authors.lastname: Cellini
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Guarnieri
authors.forename: Antonella
authors.initials: A
authors.lastname: Bartoli
authors.forename: Antonio
authors.initials: A
authors.lastname: Serio
authors.forename: Silvia
authors.initials: S
authors.lastname: Piacentini
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D000704:Analysis of Variance; D001057:Apolipoproteins E / Q000235:genetics*; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D001057:Apolipoproteins E; C525030:CST3 protein, human; D055316:Cystatin C; D015891:Cystatins; D012333:RNA, Messenger