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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.
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.
Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
Matsuo H, Yamamoto K, Nakaoka H, Nakayama A, Sakiyama M, Chiba T, Takahashi A, Nakamura T, Nakashima H, Takada Y, Danjoh I, Shimizu S, Abe J, Kawamura Y, Terashige S, Ogata H, Tatsukawa S, Yin G, Okada R, Morita E, Naito M, Tokumasu A, Onoue H, Iwaya K, Ito T, Takada T, Inoue K, Kato Y, Nakamura Y, Sakurai Y, Suzuki H, Kanai Y, Hosoya T, Hamajima N, Inoue I, Kubo M, Ichida K, Ooyama H, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: yamamoto k. Ann Rheum Dis. 2016 Apr;75(4):652-9. doi: 10.1136/annrheumdis-2014-206191. Epub 2015 Feb 2. Ann Rheum Dis. 2016. PMID: 25646370 Free PMC article.
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.
Multiple common and rare variants of ABCG2 cause gout.
Higashino T, Takada T, Nakaoka H, Toyoda Y, Stiburkova B, Miyata H, Ikebuchi Y, Nakashima H, Shimizu S, Kawaguchi M, Sakiyama M, Nakayama A, Akashi A, Tanahashi Y, Kawamura Y, Nakamura T, Wakai K, Okada R, Yamamoto K, Hosomichi K, Hosoya T, Ichida K, Ooyama H, Suzuki H, Inoue I, Merriman TR, Shinomiya N, Matsuo H. Higashino T, et al. Among authors: yamamoto k. RMD Open. 2017 Aug 29;3(2):e000464. doi: 10.1136/rmdopen-2017-000464. eCollection 2017. RMD Open. 2017. PMID: 29225919 Free PMC article.
Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.
Sakiyama M, Matsuo H, Nakaoka H, Kawamura Y, Kawaguchi M, Higashino T, Nakayama A, Akashi A, Ueyama J, Kondo T, Wakai K, Sakurai Y, Yamamoto K, Ooyama H, Shinomiya N. Sakiyama M, et al. Among authors: yamamoto k. BMC Med Genet. 2018 Jun 7;19(1):96. doi: 10.1186/s12881-018-0583-z. BMC Med Genet. 2018. PMID: 29879923 Free PMC article.
Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.
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. Nakatochi M, et al. Among authors: yamamoto k. Commun Biol. 2019 Apr 8;2:115. doi: 10.1038/s42003-019-0339-0. eCollection 2019. Commun Biol. 2019. PMID: 30993211 Free PMC article.
Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.
Kawamura Y, Nakaoka H, Nakayama A, Okada Y, Yamamoto K, Higashino T, Sakiyama M, Shimizu T, Ooyama H, Ooyama K, Nagase M, Hidaka Y, Shirahama Y, Hosomichi K, Nishida Y, Shimoshikiryo I, Hishida A, Katsuura-Kamano S, Shimizu S, Kawaguchi M, Uemura H, Ibusuki R, Hara M, Naito M, Takao M, Nakajima M, Iwasawa S, Nakashima H, Ohnaka K, Nakamura T, Stiburkova B, Merriman TR, Nakatochi M, Ichihara S, Yokota M, Takada T, Saitoh T, Kamatani Y, Takahashi A, Arisawa K, Takezaki T, Tanaka K, Wakai K, Kubo M, Hosoya T, Ichida K, Inoue I, Shinomiya N, Matsuo H. Kawamura Y, et al. Among authors: yamamoto k. Ann Rheum Dis. 2019 Oct;78(10):1430-1437. doi: 10.1136/annrheumdis-2019-215521. Epub 2019 Jul 8. Ann Rheum Dis. 2019. PMID: 31289104 Free PMC article.
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