دورية أكاديمية

Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals

التفاصيل البيبلوغرافية
العنوان: Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals
المؤلفون: Nakatochi, Masahiro, Kanai, Masahiro, Nakayama, Akiyoshi, Hishida, Asahi, Kawamura, Yusuke, Ichihara, Sahoko, Akiyama, Masato, Ikezaki, Hiroaki, Furusyo, Norihiro, Shimizu, Seiko, Yamamoto, Ken, Hirata, Makoto, Okada, Rieko, Kawai, Sayo, Kawaguchi, Makoto, Nishida, Yuichiro, Shimanoe, Chisato, Ibusuki, Rie, Takezaki, Toshiro, Nakajima, Mayuko, Takao, Mikiya, Ozaki, Etsuko, Matsui, Daisuke, Nishiyama, Takeshi, Suzuki, Sadao, Takashima, Naoyuki, Kita, Yoshikuni, Endoh, Kaori, Kuriki, Kiyonori, Uemura, Hirokazu, Arisawa, Kokichi, Oze, Isao, Matsuo, Keitaro, Nakamura, Yohko, Mikami, Haruo, Tamura, Takashi, Nakashima, Hiroshi, Nakamura, Takahiro, Kato, Norihiro, Matsuda, Koichi, Murakami, Yoshinori, Matsubara, Tatsuaki, Naito, Mariko, Kubo, Michiaki, Kamatani, Yoichiro, Shinomiya, Nariyoshi, Yokota, Mitsuhiro, Wakai, Kenji, Okada, Yukinori, Matsuo, Hirotaka
بيانات النشر: Springer Nature
سنة النشر: 2020
المجموعة: Tokushima University Institutional Repository / 徳島大学機関リポジトリ
الوصف: 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.
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 23993642
العلاقة: http://repo.lib.tokushima-u.ac.jp/files/public/11/115068/2020081115060813205/cb_2_115.pdfTest; http://repo.lib.tokushima-u.ac.jp/115068Test
الإتاحة: http://repo.lib.tokushima-u.ac.jp/115068Test
حقوق: 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/4.0Test/.
رقم الانضمام: edsbas.7D291FC1
قاعدة البيانات: BASE