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

Hélène Blasco; Philippe Corcia; Charlotte Veyrat-Durebex; Cathleen Coutadeur; Clémentine Fournier; William Camu; Paul Gordon; Julien Praline; Christian R Andres; Patrick Vourc'H; French Amyotrophic Lateral Sclerosis Als Group

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

Hélène Blasco ^{1, *} Philippe Corcia ² Charlotte Veyrat-Durebex Cathleen Coutadeur Clémentine Fournier William Camu ³ Paul Gordon ⁴ Julien Praline ¹ Christian R Andres ¹ Patrick Vourc'H ¹ French Amyotrophic Lateral Sclerosis Als Group ⁵

* Auteur correspondant

1 Imagerie et cerveau

2 Centre SLA

3 SLA CHRU Montpellier - Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier]

4 Fédération des Maladies du Système Nerveux

5 NETEC - Neuroépidémiologie Tropicale et Comparée

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.

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Santé publique et épidémiologie

Liste complète des métadonnées

https://hal-unilim.archives-ouvertes.fr/hal-00926892
Contributeur : Elisabeth Grelier <>
Soumis le : vendredi 10 janvier 2014 - 14:20:00
Dernière modification le : jeudi 11 juillet 2019 - 16:04:02

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

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

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