Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

Abstract : Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-unilim.archives-ouvertes.fr/hal-00927560
Contributeur : Elisabeth Grelier <>
Soumis le : lundi 13 janvier 2014 - 11:58:21
Dernière modification le : vendredi 15 mai 2020 - 12:22:04

Identifiants

Collections

Citation

Julien Praline, Hélène Blasco, Patrick Vourc'H, Valérian Rat, Chantal Gendrot, et al.. Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.. Journal of the Neurological Sciences, Elsevier, 2012, 317 (1-2), pp.58-61. ⟨10.1016/j.jns.2012.02.029⟩. ⟨hal-00927560⟩

Partager

Métriques

Consultations de la notice

193