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ID 116518
Nakamura, Ryoichi Nagoya University
Misawa, Kazuharu Tohoku University|Kansai Medical University
Tohnai, Genki Nagoya University
Nakatochi, Masahiro Nagoya University
Furuhashi, Sho Tohoku University
Atsuta, Naoki Nagoya University
Hayashi, Naoki Nagoya University
Yokoi, Daichi Nagoya University|Kakeyu-Misayama Rehabilitation Center Kakeyu Hospital
Watanabe, Hazuki Nagoya University|Japanese Red Cross Nagoya Daiichi Hospital
Watanabe, Hirohisa Nagoya University|Fujita Health University
Katsuno, Masahisa Nagoya University
Kanai, Kazuaki Juntendo University|Fukushima Medical University
Hattori, Nobutaka Juntendo University
Morita, Mitsuya Jichi Medical University
Taniguchi, Akira Mie University
Kano, Osamu Toho University
Oda, Masaya Vihara Hananosato Hospital
Shibuya, Kazumoto Chiba University
Kuwabara, Satoshi Chiba University
Suzuki, Naoki Tohoku University
Aoki, Masashi Tohoku University
Ohta, Yasuyuki Okayama University
Yamashita, Toru Okayama University
Hashimoto, Rina National Hospital Organization Higashinagoya National Hospital
Aiba, Ikuko National Hospital Organization Higashinagoya National Hospital
Mizoguchi, Kouichi National Hospital Organization Shizuoka Medical Center
Hasegawa, Kazuko Sagamihara National Hospital
Okada, Yohei Aichi Medical University
Ishihara, Tomohiko Niigata University
Onodera, Osamu Niigata University
Nakashima, Kenji Matsue Medical Center
Kamatani, Yoichiro RIKEN
Ikegawa, Shiro RIKEN
Momozawa, Yukihide RIKEN
Kubo, Michiaki RIKEN
Ishida, Noriko Tohoku University
Minegishi, Naoko Tohoku University
Nagasaki, Masao Tohoku University|Kyoto University
Sobue, Gen Nagoya University|Aichi Medical University
Content Type
Journal Article
Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population. A combined meta-analysis of our Japanese cohort with individuals of European ancestry revealed a significant association at the ACSL5 locus (top SNP p = 2.97 × 10−8). We validated the association with ACSL5 in a replication study with a Chinese population and an independent Japanese population (1941 ALS cases, 3821 controls; top SNP p = 1.82 × 10−4). In the combined meta-analysis, the intronic ACSL5 SNP rs3736947 showed the strongest association (p = 7.81 × 10−11). Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1, RAPGEF5, FNBP1, and ATXN3. These results advance our understanding of the genetic basis of sporadic ALS.
Journal Title
Communications Biology
Springer Nature
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cb_3_526.pdf 1.48 MB
University Hospital
Medical Sciences