title: Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort.
abstract: Chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS). Particularly, a variation c.1238C>T (p.Pro413Leu) in the chromogranin B gene, CHGB, has been associated with an earlier age at onset in both familial and sporadic ALS in French/French-Canadian populations studied. The aim of our study was to evaluate the P413L chromogranin variation in Italian patients with sporadic ALS. The study included 366 Italian patients with sporadic ALS and 382 control subjects. Genotyping of the polymorphism P413L in the CHGB gene was performed and the clinical characteristics of patients were analyzed in relation to their genotype. Our study on a cohort of Italian patients with SALS and controls failed to confirm an increased frequency of the 413L variant in SALS patients. Furthermore, we did not confirm the previous observation of a difference of age at onset between T-allele carriers and non-carriers (median age of onset 58.5 vs. 60.2years of age, respectively). Our findings do not support the 413L variant as a risk factor for sporadic ALS in the Italian population.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ricci
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: Ricci
authors.initials: R
authors.lastname: Claudia
authors.forename: Stefania
authors.initials: S
authors.lastname: Battistini
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: Battistini
authors.initials: B
authors.lastname: Stefania
authors.forename: Francesca
authors.initials: F
authors.lastname: Avemaria
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Avemaria
authors.initials: A
authors.lastname: Francesca
authors.forename: Michele
authors.initials: M
authors.lastname: Benigni
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: Benigni
authors.initials: B
authors.lastname: Michele
authors.forename: Claudia
authors.initials: C
authors.lastname: Tarlarini
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Tarlarini
authors.initials: T
authors.lastname: Claudia
authors.forename: Fabio
authors.initials: F
authors.lastname: Giannini
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: Giannini
authors.initials: G
authors.lastname: Fabio
authors.forename: Massimo
authors.initials: M
authors.lastname: Corbo
authors.affiliation: NEuroMuscolar Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, Italy; Department of Neurorehabilitation Sciences, Casa Cura Policlinico, Milan, Italy.
authors.forename: Corbo
authors.initials: C
authors.lastname: Massimo
authors.forename: Christian
authors.initials: C
authors.lastname: Lunetta
authors.affiliation: NEuroMuscolar Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Lunetta
authors.initials: L
authors.lastname: Christian
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address: silvana.penco@ospedaleniguarda.it.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Penco
authors.initials: P
authors.lastname: Silvana
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D016022:Case-Control Studies; D053378:Chromogranin B / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C506134:CHGB protein, human; D053378:Chromogranin B
keywords: ALS; Association studies; Chromogranin B; Neurogenetics