The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

Amyotroph Lateral Scler. 2011 May;12(3):210-4. doi: 10.3109/17482968.2010.522587. Epub 2010 Oct 11.

Abstract

Chromogranins interact with mutant forms of superoxide dismutase 1 (SOD1) responsible for a portion of familial amyotrophic lateral sclerosis (ALS). A particular variation (P413L) in the chromogranin B gene, CHGB, has been recently associated with an earlier age at onset in both familial and sporadic ALS. The aim of our study was to evaluate the P413L chromogranin variation in French patients with sporadic amyotrophic lateral sclerosis. We developed a High Resolution DNA Melting (HRM) protocol to analyse the P413L variation in the CHGB gene in 540 French patients with sporadic ALS and 504 controls. The clinical characteristics of patients were analysed in relation to their genotype. Results showed that our study on a large cohort of French-Caucasian patients with SALS and controls failed to confirm an increased frequency of the 413L variant in SALS patients. This frequency was 5.3% in the SALS population and 5.5% in the control group. Moreover, we did not observe a previous observation of a difference of age at onset between T-allele carriers and non-carriers (median age of onset 60.4 vs. 62.0 years of age, respectively). Thus, our findings do not support the 413L variant of rs742710 as a risk factor for sporadic ALS in the French population.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Animals
  • Chromogranin B / genetics*
  • Chromogranin B / metabolism
  • France
  • Genotype
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Sequence Alignment
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1
  • Young Adult

Substances

  • Chromogranin B
  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1