A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.

@article{Iida2011AFV,
  title={A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.},
  author={Aritoshi Iida and Atsushi Takahashi and Michiaki Kubo and Susumu Saito and Naoya Hosono and Yozo Ohnishi and Kazuma Kiyotani and Taisei Mushiroda and Masahiro Nakajima and Kouichi Ozaki and Toshihiro Tanaka and Tatsuhiko Tsunoda and Shuichi Oshima and Motoki Sano and Tetsumasa Kamei and Torao Tokuda and Masashi Aoki and Kazuko Hasegawa and Koichi Mizoguchi and Mitsuya Morita and Yuji Takahashi and Masahisa Katsuno and Naoki Atsuta and Hirohisa Watanabe and Fumiaki Tanaka and Ryuji Kaji and Imaharu Nakano and Naoyuki Kamatani and Shoji Tsuji and Gen Sobue and Yusuke Nakamura and Shiro Ikegawa},
  journal={Human molecular genetics},
  year={2011},
  volume={20 18},
  pages={
          3684-92
        }
}
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons. Several susceptibility genes for ALS have been reported; however, ALS etiology and pathogenesis remain largely unknown. To identify further ALS-susceptibility genes, we conducted a large-scale case-control association study using gene-based tag single-nucleotide polymorphisms (SNPs). A functional SNP (rs2275294) was found to be significantly associated with ALS through a… 
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