Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population

Xueping Chen; Rui Huang; Yongping Chen; Zhenzhen Zheng; Ke Chen; Wei Song; Bi Zhao; Yuan Yang; Lixing Yuan; Huifang Shang

doi:10.1007/s10072-014-1656-1

Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population

Neurol Sci. 2014 Jul;35(7):1089-95. doi: 10.1007/s10072-014-1656-1. Epub 2014 Feb 4.

Authors

Xueping Chen¹, Rui Huang, Yongping Chen, Zhenzhen Zheng, Ke Chen, Wei Song, Bi Zhao, Yuan Yang, Lixing Yuan, Huifang Shang

Affiliation

¹ Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, 610041, China.

PMID: 24493373
DOI: 10.1007/s10072-014-1656-1

Abstract

Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 in the UNC13A gene, rs13048019 in the TIMA1 gene, and rs2228576 in the SCNN1A gene have been reported to be associated with the risk for developing amyotrophic lateral sclerosis (ALS) in Caucasian population. However, this association is not consistent among different studies and yet to be tested in ALS patients in Mainland China. This study included 397 sporadic ALS (SALS) patients and 287 unrelated Chinese healthy controls from Southwest China. Four SNPs listed above were genotyped by using Sequenom's iPLEX assay. No significant differences in the genotype distributions or minor allele frequencies in all SNPs were found between ALS group and control group, between the spinal-onset group and bulbar-onset group, and between the early-onset group and the late-onset group. Our results suggest that these SNPs are unlikely to be common cause of SALS in Chinese population.

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis / ethnology
Amyotrophic Lateral Sclerosis / genetics*
Asian People / genetics
C9orf72 Protein
Epithelial Sodium Channels / genetics*
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease*
Genotype
Guanine Nucleotide Exchange Factors / genetics*
Humans
Male
Middle Aged
Nerve Tissue Proteins / genetics*
Polymorphism, Single Nucleotide / genetics*
Proteins / genetics
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Superoxide Dismutase / genetics*
Superoxide Dismutase-1
T-Lymphoma Invasion and Metastasis-inducing Protein 1
Young Adult

Substances

C9orf72 Protein
C9orf72 protein, human
Epithelial Sodium Channels
Guanine Nucleotide Exchange Factors
Nerve Tissue Proteins
Proteins
SCNN1A protein, human
SOD1 protein, human
T-Lymphoma Invasion and Metastasis-inducing Protein 1
TIAM1 protein, human
UNC13B protein, human
Superoxide Dismutase
Superoxide Dismutase-1