Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population.
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.
Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, 610041, China.
Xueping
X
Chen
Rui
R
Huang
Yongping
Y
Chen
Zhenzhen
Z
Zheng
Ke
K
Chen
Wei
W
Song
Bi
B
Zhao
Yuan
Y
Yang
Lixing
L
Yuan
Huifang
H
Shang
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D000073885:C9orf72 Protein; D053503:Epithelial Sodium Channels / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D000075684:T-Lymphoma Invasion and Metastasis-inducing Protein 1; D055815:Young Adult
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D053503:Epithelial Sodium Channels; D020662:Guanine Nucleotide Exchange Factors; D009419:Nerve Tissue Proteins; D011506:Proteins; C507045:SCNN1A protein, human; C000606290:SOD1 protein, human; D000075684:T-Lymphoma Invasion and Metastasis-inducing Protein 1; C087334:TIAM1 protein, human; C485548:UNC13B protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1