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GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
Nakayama A, Nakaoka H, Yamamoto K, Sakiyama M, Shaukat A, Toyoda Y, Okada Y, Kamatani Y, Nakamura T, Takada T, Inoue K, Yasujima T, Yuasa H, Shirahama Y, Nakashima H, Shimizu S, Higashino T, Kawamura Y, Ogata H, Kawaguchi M, Ohkawa Y, Danjoh I, Tokumasu A, Ooyama K, Ito T, Kondo T, Wakai K, Stiburkova B, Pavelka K, Stamp LK, Dalbeth N; Eurogout Consortium; Sakurai Y, Suzuki H, Hosoyamada M, Fujimori S, Yokoo T, Hosoya T, Inoue I, Takahashi A, Kubo M, Ooyama H, Shimizu T, Ichida K, Shinomiya N, Merriman TR, Matsuo H; Eurogout Consortium. Nakayama A, et al. Among authors: yamamoto k. Ann Rheum Dis. 2017 May;76(5):869-877. doi: 10.1136/annrheumdis-2016-209632. Epub 2016 Nov 29. Ann Rheum Dis. 2017. PMID: 27899376 Free PMC article.
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, Furuta H, Hirota Y, Mori H, Jonsson A, Sato Y, Yamagata K, Hinokio Y, Wang HY, Tanahashi T, Nakamura N, Oka Y, Iwasaki N, Iwamoto Y, Yamada Y, Seino Y, Maegawa H, Kashiwagi A, Takeda J, Maeda E, Shin HD, Cho YM, Park KS, Lee HK, Ng MC, Ma RC, So WY, Chan JC, Lyssenko V, Tuomi T, Nilsson P, Groop L, Kamatani N, Sekine A, Nakamura Y, Yamamoto K, Yoshida T, Tokunaga K, Itakura M, Makino H, Nanjo K, Kadowaki T, Kasuga M. Yasuda K, et al. Among authors: yamamoto k. Nat Genet. 2008 Sep;40(9):1092-7. doi: 10.1038/ng.207. Nat Genet. 2008. PMID: 18711367
Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
Nakabayashi K, Tajima A, Yamamoto K, Takahashi A, Hata K, Takashima Y, Koyanagi M, Nakaoka H, Akamizu T, Ishikawa N, Kubota S, Maeda S, Tsunoda T, Kubo M, Kamatani N, Nakamura Y, Sasazuki T, Shirasawa S. Nakabayashi K, et al. Among authors: yamamoto k. J Hum Genet. 2011 Nov;56(11):772-8. doi: 10.1038/jhg.2011.99. Epub 2011 Sep 8. J Hum Genet. 2011. PMID: 21900946
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: yamamoto k. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 Free PMC article.
ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload.
Matsuo H, Nakayama A, Sakiyama M, Chiba T, Shimizu S, Kawamura Y, Nakashima H, Nakamura T, Takada Y, Oikawa Y, Takada T, Nakaoka H, Abe J, Inoue H, Wakai K, Kawai S, Guang Y, Nakagawa H, Ito T, Niwa K, Yamamoto K, Sakurai Y, Suzuki H, Hosoya T, Ichida K, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: yamamoto k. Sci Rep. 2014 Jan 20;4:3755. doi: 10.1038/srep03755. Sci Rep. 2014. PMID: 24441388 Free PMC article.
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