Citations 3
Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
Tsuji, Shoji , Nakahara, Yasuo , Mitsui, Jun , Date, Hidetoshi, Porto, Kristine Joyce L. , Hyashi, Y., Kusakabe, Yoshio , Matsukawa, Takashi , Ishiura, Hiroyuki , Yasuda, Tsutomu , Goto, Jun , Ichikawa, Yaeko, Momose, Yoshio, Takahashi, Yuji , Ohta, Rikifumi , Yoshimura, Jun , Gustavsson, Emil K. , Christy, Darren, Maczis, Melisa, Gu, Weihong, Scholz, Sonja W. , Houlden, Henry , Sasaki, Hidenao , Kikuchi, Akio , Hara, Kenju , Kakita, Akiyoshi , Yamada, Mitsunori , Nishizawa, Masatoyo , Ito, Mizuki , Sobue, Gen , Ishikawa, Kinya , Mizusawa, Hidehiro, Kanai, Kazuaki , Arai, Kimihito , Koyano, Shigeru , Kuroiwa, Yoshiyuki , Hasegawa, Kazuko, Yuasa, Tatsuhiko, Yasui, Kenichi, Ito, Hijiri, Izumi, Yuishin , Kaji, Ryuji , Kato, Takeo , Kusunoki, Susumu , Osaki, Yasushi , Horiuchi, Masahiro , Yamamoto, Ken , Shimada, Mihoko , Miyagawa, Taku , Nishida, Nao , Tokunaga, Katsushi , Filla, Alessandro , Klockgether, Thomas , Wuellner, Ullrich, Kukull, Walter A. , Masliah, Eliezer , Low, Phillip A. , Sandroni, Paola , Ozelius, Laurie J. , Trojanowski, John Q. , Scholz, Sonja W , Houlden, Henry , Yamashita, Atsushi , Yasuda, Tsutomu, Iwata, Atsushi , Toda, Tatsushi , Morishita, Shinichi , Kim, Han‐Joon , Park, Sung Sup , Zhang, Jin , Chelban, Viorica , Mok, Kin Ying , Yabe, Ichiro , Matsushima, Masaaki , Takashima, Hiroshi , Aoki, Masashi , Takahashi, Hitoshi , Onodera, Osamu , Watanabe, Hirohisa , Kuwabara, Satoshi , Nakashima, Kenji , Horiuchi, Masahiro, Kawai, Yosuke , Dürr, Alexandra , Brice, Alexis , Tanner, Caroline M. , Lee, Virginia M.‐Y. , Foroud, Tatiana , Farrer, Matthew J.
No container title available | February 6, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European, and North American samples. In the GWAS stage, rs2303744 on chromosome 19 showed a suggestive association (P = 6.5 × 10− 7) that was replicated in additional Japanese samples (P = 2.9 × 10− 6, odds ratio (OR) = 1.58; 95% confidence interval (CI), 1.30–1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data (P = 5.0 × 10− 15, OR = 1.49; 95% CI 1.35–1.65). The association of rs2303744 with MSA remained significant in combined European/North American samples (P = 0.017, OR = 1.12; 95% CI 1.02–1.23) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution in PLA2G4C that encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform, and may perturb membrane phospholipids and promote oligodendroglial pathology.
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Prudencio, Mercedes , García‐Moreno, Héctor , Jansen‐West, Karen , Al‐Shaikh, Rana Hanna , Gendron, Tania F. , Spiegel, Matthew R. , Carlomagno, Yari , Daughrity, Lillian M. , Song, Yuping , Dunmore, Judith A. , Byron, Natalie, Oskarsson, Björn , Nicholson, Katharine, Staff, Nathan P. , Gorcenco, Sorina , Puschmann, Andreas , Lemos, João , Januário, Cristina , LeDoux, Mark S. , Polke, James, Labrum, Robin, McLoughlin, Hayley S. , Paulson, Henry L. , Onodera, Osamu , Tada, Mari , Kakita, Akiyoshi , Fryer, John Denis , Karremo, Christin, Gomes, Inês , Caviness, John N., Pittelkow, Mark R. , Aasly, Jan , Pfeiffer, Ronald F. , Veerappan, Venka , Eggenberger, Eric , Huang, Josephine F. , Uitti, Ryan J. , Wierenga, Klaas J. , Collazo, I. Vanessa Marin , Tipton, Philip W. , Gerpen, Jay A. van, Blitterswijk, Marka van , Bu, Guojun , Petrucelli, Leonard , Jansen-West, Karen R , Carlomagno, Yari , Daughrity, Lillian M , Dunmore, Judith A , Oskarsson, Björn , Staff, Nathan P , Gorcenco, Sorina , Puschmann, Andreas , Lemos, João , Januário, Cristina , Shakkottai, Vikram , McLoughlin, Hayley S , Paulson, Henry L , Konno, Takuya , Onodera, Osamu , Ikeuchi, T , Tada, Mari , Gomes, Inês , Pittelkow, Mark R , Aasly, Jan , Eggenberger, Eric R, Freeman, William D , Huang, Josephine F , Marin Collazo, Iris V , Tipton, Philip W , van Blitterswijk, Marka , Bu, Guojun , Wszolek, Z.K. , Giunti, Paola , Petrucelli, Leonard , Prudencio, Mercedes , Gendron, Tania F , Hanna Al-Shaikh, Rana , Heckman, Michael G. , Friedman, Joseph H. , Konno, Takuya , Ikeuchi, Takeshi , Freeman, William D. , Wszołek, Zbigniew K.
Science Translational Medicine | October 21, 2020 | Volume: 12 | Issue: 566 | Pages: No page available
PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and a SNP associated with the expanded allele may serve to specifically target mutant ATXN3 .
Variants associated with Gaucher disease in multiple system atrophy
Mitsui, Jun , Sasaki, Hidenao , Matsushima, Masaaki , Brice, Alexis , Kikuchi, Akio , Aoki, Masashi , Ishiura, Hiroyuki , Yasuda, Tsutomu , Date, Hidetoshi, Ahsan, Budrul , Iwata, Atsushi , Goto, Jun , Ichikawa, Yaeko, Nakahara, Yasuo , Momose, Yoshio, Takahashi, Yūji , Hara, Kenju , Kakita, Akiyoshi , Yamada, Mitsunori , Nishizawa, Masatoyo , Ito, Mizuki , Sobue, Gen , Ishikawa, Kinya , Mizusawa, Hidehiro, Kanai, Kazuaki , Hattori, Takamichi, Arai, Kimihito , Koyano, Shigeru , Kuroiwa, Yoshiyuki , Hasegawa, Kazuko, Yuasa, Tatsuhiko, Yasui, Kenichi, Ito, Hijiri, Izumi, Yuishin , Kaji, Ryuji , Kato, Takeo , Kusunoki, Susumu , Osaki, Yasushi , Horiuchi, Masahiro , Kondo, Tomoyoshi, Murayama, Shigeo , Hattori, Nobutaka , Yamamoto, Mitsutoshi, Miho, Murata, Satake, Wataru , Filla, Alessandro , Klockgether, Thomas , Gilman, Sid, Kukull, Walter A. , Stern, Mathew B., Trojanowski, John Q. , Masliah, Eliezer , Low, Phillip A. , Sandroni, Paola , Ozelius, Laurie J. , Matsukawa, Takashi , Yabe, Ichiro , Dürr, Alexandra , Takashima, Hiroshi , Takahashi, Hitoshi , Onodera, Osamu , Watanabe, Hirohisa , Kuwabara, Satoshi , Nakashima, Kenji , Toda, Tatsushi , Wüllner, Ullrich , Nicholson, Garth A. , Tanner, Caroline M. , Lee, Virginia M.‐Y. , Foroud, Tatiana , Tsuji, Shoji , Brice, Alexis
Annals of Clinical and Translational Neurology | February 28, 2015 | Volume: 2 | Issue: 4 | Pages: 417-426