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

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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.

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Acknowledgments

We thank the patients and their families for their participation in this project.

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Authors and Affiliations

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

    Xueping Chen, Rui Huang, Yongping Chen, Zhenzhen Zheng, Ke Chen, Wei Song, Bi Zhao & Huifang Shang

  2. Department of Medical Genetics, West China Hospital, SiChuan University, Chengdu, Sichuan, China

    Yuan Yang

  3. Public Laboratory of Second Affiliated Hospital of West China of Sichuan University, Chengdu, Sichuan, China

    Lixing Yuan

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  1. Xueping Chen
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  2. Rui Huang
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  5. Ke Chen
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Correspondence to Huifang Shang.

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X. Chen and R. Huang these authors have contributed equally to the work.

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Chen, X., Huang, R., Chen, Y. et al. Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population. Neurol Sci 35, 1089–1095 (2014). https://doi.org/10.1007/s10072-014-1656-1

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