This paper describes the genetic etiology of sporadic amyotrophic
lateral sclerosis in a single population. Polymerase chain reaction-restriction
fragment length polymorphism and DNA sample sequencing of 3 common HFE
gene variants (C282Y and H63D and S65C) were performed on 10 randomly selected
samples of H63D gene variant (124 patients with sporadic amyotrophic lateral
sclerosis) and 10 wild types of H63D samples (210 controls). The C282Y
and S65C gene variant were absent.
There
were 24 cases (7.18%) with H63D heterozygous variants, including 16 cases (13%)
in the sporadic amyotrophic lateral sclerosis group and 8 cases (4%) in the
healthy control group. The polymorphism frequency of the H63D gene variant in the
sporadic amyotrophic lateral sclerosis group was significantly different than
that in the control group (p
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H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population
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1
Department of Neurology, The Second Hospital of Hebei Medical University, West Heping Road 215, Shijiazhuang, Hebei, 050000, P. R. China
2
Department of Neurology, Binzhou Medical University Hospital, Binzhou, Shandong, 256603, P. R. China
3
Key Laboratory of Neurology of Hebei Province, Shijiazhuang, Hebei, 050000, P. R. China
*Correspondence: txydoc@163.com (Xin-Ying Tian)
J. Integr. Neurosci. 2020, 19(3), 495–499;
https://doi.org/10.31083/j.jin.2020.03.131
Submitted: 4 May 2020 | Revised: 27 August 2020 | Accepted: 2 September 2020 | Published: 30 September 2020
Copyright: © 2020 Zhang et al. Published by IMR Press.
This is an open access article under the CC BY-NC 4.0 license (https://creativecommons.org/licenses/by-nc/4.0/).
Abstract
Keywords
Neurogenetics
amyotrophic lateral sclerosis
motor neuron disease
HFE gene
polymorphism