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

    Communications biology, 2019-Apr-08, Volume: 2, Issue: 1
    Journal Article

    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 ) 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.

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