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ID 115068
Author
Nakatochi, Masahiro Nagoya University
Kanai, Masahiro RIKEN Center for Integrative Medical Sciences|Osaka University|Harvard Medical School
Nakayama, Akiyoshi National Defense Medical College|Japan Air Self-Defense Force
Hishida, Asahi Nagoya University
Kawamura, Yusuke National Defense Medical College
Ichihara, Sahoko Jichi Medical University
Akiyama, Masato RIKEN Center for Integrative Medical Sciences|Kyushu University
Ikezaki, Hiroaki Kyushu University
Furusyo, Norihiro Kyushu University
Shimizu, Seiko National Defense Medical College
Yamamoto, Ken Kurume University
Hirata, Makoto The University of Tokyo
Okada, Rieko Nagoya University
Kawai, Sayo Nagoya University
Kawaguchi, Makoto National Defense Medical College
Nishida, Yuichiro Saga University
Shimanoe, Chisato Saga University
Ibusuki, Rie Kagoshima University
Takezaki, Toshiro Kagoshima University
Nakajima, Mayuko National Defense Medical College
Takao, Mikiya National Defense Medical College
Ozaki, Etsuko Kyoto Prefectural University of Medicine
Matsui, Daisuke Kyoto Prefectural University of Medicine
Nishiyama, Takeshi Nagoya City University
Suzuki, Sadao Nagoya City University
Takashima, Naoyuki Shiga University of Medical Science
Kita, Yoshikuni Tsuruga City College of Nursing
Endoh, Kaori University of Shizuoka
Kuriki, Kiyonori University of Shizuoka
Oze, Isao Aichi Cancer Center Research Institute
Matsuo, Keitaro Aichi Cancer Center Research Institute|Nagoya University
Nakamura, Yohko Chiba Cancer Center Research Institute
Mikami, Haruo Chiba Cancer Center Research Institute
Tamura, Takashi Nagoya University
Nakashima, Hiroshi National Defense Medical College
Nakamura, Takahiro National Defense Medical College
Kato, Norihiro National Center for Global Health and Medicine
Matsuda, Koichi The University of Tokyo
Murakami, Yoshinori The University of Tokyo
Matsubara, Tatsuaki Aichi Gakuin University
Naito, Mariko Nagoya University|Hiroshima University
Kubo, Michiaki RIKEN Center for Integrative Medical Sciences
Kamatani, Yoichiro RIKEN Center for Integrative Medical Sciences|Kyoto University
Shinomiya, Nariyoshi National Defense Medical College
Yokota, Mitsuhiro Aichi Gakuin University
Wakai, Kenji Nagoya University
Okada, Yukinori RIKEN Center for Integrative Medical Sciences|Osaka University
Matsuo, Hirotaka National Defense Medical College
Content Type
Journal Article
Description
Gout is a common arthritis caused by elevated serum uric acid (SUA) levels. Here we investigated loci influencing SUA in a genome-wide meta-analysis with 121,745 Japanese subjects. We identified 8948 variants at 36 genomic loci (P<5 × 10–8) including eight novel loci. Of these, missense variants of SESN2 and PNPLA3 were predicted to be damaging to the function of these proteins; another five loci—TMEM18, TM4SF4, MXD3-LMAN2, PSORS1C1-PSORS1C2, and HNF4A—are related to cell metabolism, proliferation, or oxidative stress; and the remaining locus, LINC01578, is unknown. We also identified 132 correlated genes whose expression levels are associated with SUA-increasing alleles. These genes are enriched for the UniProt transport term, suggesting the importance of transport-related genes in SUA regulation. Furthermore, trans-ethnic meta-analysis across our own meta-analysis and the Global Urate Genetics Consortium has revealed 15 more novel loci associated with SUA. Our findings provide insight into the pathogenesis, treatment, and prevention of hyperuricemia/gout.
Journal Title
Communications Biology
ISSN
23993642
Publisher
Springer Nature
Volume
2
Start Page
115
Published Date
2019-04-08
Rights
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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DOI (Published Version)
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cb_2_115.pdf 2.27 MB
language
eng
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departments
Medical Sciences