Citations 2
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.
The Human Phenotype Ontology in 2024: phenotypes around the world
Gargano, Michael , Matentzoglu, Nicolas , Coleman, Ben , Addo-Lartey, Eunice B, Anagnostopoulos, Anna V. , Anderton, Joel , Avillach, Paul , Bagley, Anita , Bakštein, Eduard , Balhoff, James P. , Baynam, Gareth , Bertram, Holli , Bishop, Somer , Bodenstein, David F. , Botas, Pablo , Cady, J , Cameron, Rhiannon , Castellanos, F , Chan, Lauren , Cruz-Rojo, Jaime , Dahan‐Oliel, Noémi , Davids, Jon R. , Dieuleveult, Maud de , Souza, Vinícius de , Vries, Bert B.A. de , Diaz‐Byrd, Claudia , Duyzend, Michael , Elfeky, Reem , Essaid, Shahim , Fabrizzi, Carolina , Freudenberg‐Hua, Yun , Gabriel, Davera , Moses, Rachel Gore , Green, Ian, Gu, Weihong, Guthrie, Julia, Hamosh, Ada , Hanauer, Marc , Hanušová, Kateřina , He, Yongqun , Helbig, Ingo , Huang, Shangzhi, Joseph, Lisa , Keramatian, Kamyar , King, Bryan , Knoflach, Katrin , Koolen, David A. , Kraus, Megan L , Kroll, Carlo , Kusters, Maaike , Ladewig, Markus S. , Lagorce, David , Laraway, Bryan , Li, Xiarong, Lucano, Caterina , Marazita, Mary L. , Martínez‐Glez, Víctor , McHenry, Toby H, McInnis, Melvin G. , Mihulová, Michaela , Millett, Caitlin E. , Moslerová, Veronika , Narutomi, Kenji, Nevado, Julián , Nierenberg, Andrew A. , Čajbiková, Nikola Novák , Ogishima, Soichi , Olson, Daniel , Ortiz, Abigail, Nanclares, Guiomar Pérez de , Peters, Amy T. , Rapp, Christina , Rath, Ana , Rekerle, Lauren , Roberts, Angharad M. , Roy, Suzy, Sanders, Stephan , Schuetz, Catharina , Schwarz, Martin , Scott, Katie , Seelow, Dominik , Seitz, Berthold , Shen, Yiping , Similuk, Morgan , Simon, Eric S. , Singh, Balwinder , Smith, Cynthia L. , Smolinsky, Jake T , Stafford, Elizabeth , Stefancsik, Ray , Steinhaus, Robin , Strawbridge, Rebecca , Sundaramurthi, Jagadish Chandrabose , Talapova, Polina , Castano, Jair A Tenorio , Tesner, Pavel , Thomas, Rhys H. , Turnovec, Marek , Gijn, Mariëlle van , Vlčková, Markéta , Walden, Anita , Ware, James S. , Wiafe, Addo A, Wiafe, Samuel Agyei , Wiggins, Lisa D. , Williams, Andrew E. , Wu, Chen , Xiong, Hui, Yalın, Nefize , Yamamoto, Yasunori , Yatham, Lakshmi N. , Yocum, Anastasia K. , Young, Allan H. , Yüksel, Zafer , Zandi, Peter P. , Zvolský, Miroslav , Carmody, Leigh , Harris, Nomi L. , Muñoz-Torres, Mónica , Daniš, Daniel , Mungall, Chris , Haendel, Melissa , Robinson, Peter N. , Gargano, Michael A , Bagley, Anita M , Bello, Susan M , Berk, Michael , Bertram, Holli , Bishop, Somer , Blau, Hannah , Bodenstein, David F , Botas, Pablo , Boztug, Kaan , Čady, Jolana , Callahan, Tiffany J , Cameron, Rhiannon , Carbon, Seth J , Castellanos, Francisco , Caufield, J Harry , Chan, Lauren E , Chute, Christopher G , Cruz-Rojo, Jaime , Dahan-Oliel, Noémi , Davids, Jon R , de Dieuleveult, Maud , de Vries, Bert B A , de Vries, Esther , DePaulo, J Raymond , Derfalvi, Beata , Dhombres, Ferdinand , Diaz-Byrd, Claudia , Dingemans, Alexander J M , Donadille, Bruno , Duyzend, Michael , Elfeky, Reem , Essaid, Shahim , Fabrizzi, Carolina , Fico, Giovanna , Firth, Helen V , Freudenberg-Hua, Yun , Fullerton, Janice M , Gilmour, Kimberly , Giordano, Jessica , Goes, Fernando , Moses, Rachel Gore , Griese, Matthias , Groza, Tudor , Guthrie, Julia , Gyori, Benjamin , Hamosh, Ada , Hanauer, Marc , Hanušová, Kateřina , He, Yongqun , Hegde, Harshad , Helbig, Ingo , Holasová, Kateřina , Hoyt, Charles Tapley , Hurwitz, Eric , Jacobsen, Julius O B , Joseph, Lisa , Keramatian, Kamyar , King, Bryan , Knoflach, Katrin , Koolen, David A , Kraus, Megan L , Kusters, Maaike , Ladewig, Markus S , Lagorce, David , Lai, Meng-Chuan , Lapunzina, Pablo , Laraway, Bryan , Lewis-Smith, David , Lucano, Caterina , Majd, Marzieh , Marazita, Mary L , Martinez-Glez, Victor , McInnis, Melvin G , McMurry, Julie A , Mihulová, Michaela , Millett, Caitlin E , Mitchell, Philip B , Moslerová, Veronika , Nematollahi, Shahrzad , Nevado, Julian , Nierenberg, Andrew A , Čajbiková, Nikola Novák , Nurnberger, John I , Ogishima, Soichi , Olson, Daniel , Ortiz, Abigail , Pachajoa, Harry , Perez de Nanclares, Guiomar , Peters, Amy T , Putman, Tim , Rath, Ana , Reese, Justin , Rekerle, Lauren , Sanders, Stephan J , Schuetz, Catharina , Schulte, Eva , Schulze, Thomas , Schwarz, Martin , Scott, Katie , Seelow, Dominik , Seitz, Berthold , Similuk, Morgan N , Simon, Eric S , Singh, Balwinder , Smedley, Damian , Smith, Cynthia L , Smolinsky, Jake T , Sperry, Sarah , Stafford, Elizabeth , Stefancsik, Ray , Steinhaus, Robin , Strawbridge, Rebecca , Sundaramurthi, Jagadish Chandrabose , Talapova, Polina , Tenorio Castano, Jair A , Tesner, Pavel , Thomas, Rhys H , Thurm, Audrey , Turnovec, Marek , van Gijn, Marielle E , Vasilevsky, Nicole A , Vlčková, Markéta , Walden, Anita , Wang, Kai , Wapner, Ron , Ware, James S , Wiafe, Samuel A , Wiggins, Lisa D , Williams, Andrew , Wyrwoll, Margot J , Yalin, Nefize , Yamamoto, Yasunori , Yatham, Lakshmi N , Yocum, Anastasia K , Young, Allan H , Yüksel, Zafer , Zandi, Peter P , Zankl, Andreas , Zarante, Ignacio , Zvolský, Miroslav , Toro, Sabrina , Carmody, Leigh C , Harris, Nomi L , Munoz-Torres, Monica C , Danis, Daniel , Mungall, Christopher J , Köhler, Sebastian , Haendel, Melissa , Robinson, Peter N , Berk, Michael , Chute, Christopher G. , Fico, Giovanna , Fullerton, Janice M. , Giordano, Jessica L. , Jiang, Xiaofeng , Lai, Meng‐Chuan , Schulte, Eva C. , Smedley, Damian , Sperry, Sarah H. , Xiong, Hui
Nucleic Acids Research | October 19, 2023 | Volume: 52 | Issue: D1 | Pages: D1333-D1346
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.