日本語フィールド
著者：＊Nakatochi M, Kanai M, Nakayama A, Hishida A, Kawamura Y, Ichihara S, Akiyama M, Ikezaki H, Furusyo N, Shimizu S, Yamamoto K, Hirata M, Okada R, Kawai S, Kawaguchi M, Nishida Y, Shimanoe C, Ibusuki R, Takezaki T, Nakajima M, Takao M, Ozaki E, Matsui D, Nishiyama T, Suzuki S, Takashima N, Kita Y, Endoh K, Kuriki K, Uemura H, Arisawa K, Oze I, Matsuo K, Nakamura Y, Mikami H, Tamura T, Nakashima H, Nakamura T, Kato N, Matsuda K, Murakami Y, Matsubara T, Naito M, Kubo M, Kamatani Y, Shinomiya N, Yokota M, Wakai K, Okada Y, Matsuo H.題名：Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.発表情報：Commun. Biol. 巻: 2 ページ: 115キーワード：概要：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.抄録：英語フィールド
Author：＊Nakatochi M, Kanai M, Nakayama A, Hishida A, Kawamura Y, Ichihara S, Akiyama M, Ikezaki H, Furusyo N, Shimizu S, Yamamoto K, Hirata M, Okada R, Kawai S, Kawaguchi M, Nishida Y, Shimanoe C, Ibusuki R, Takezaki T, Nakajima M, Takao M, Ozaki E, Matsui D, Nishiyama T, Suzuki S, Takashima N, Kita Y, Endoh K, Kuriki K, Uemura H, Arisawa K, Oze I, Matsuo K, Nakamura Y, Mikami H, Tamura T, Nakashima H, Nakamura T, Kato N, Matsuda K, Murakami Y, Matsubara T, Naito M, Kubo M, Kamatani Y, Shinomiya N, Yokota M, Wakai K, Okada Y, Matsuo H.Title：Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.Announcement information:Commun. Biol. Vol: 2 Page: 115An abstract：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.