title: 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.
authors.affiliation: UMR INSERM U930, Université François-Rabelais, Tours, France; Centre SLA, Service de Neurologie et Neurophysiologie Clinique, CHRU de Tours, France. julien.praline@univ-tours.fr
authors.forename: Julien
authors.initials: J
authors.lastname: Praline
authors.forename: Hélène
authors.initials: H
authors.lastname: Blasco
authors.forename: Patrick
authors.initials: P
authors.lastname: Vourc'h
authors.forename: Valérian
authors.initials: V
authors.lastname: Rat
authors.forename: Chantal
authors.initials: C
authors.lastname: Gendrot
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Christian R
authors.initials: CR
authors.lastname: Andres
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005602:France / Q000453:epidemiology; D005787:Gene Frequency / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D016037:Single-Blind Method; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins