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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: shimizu t, shimizu s. Sci Rep. 2014 Jan 20;4:3755. doi: 10.1038/srep03755. Sci Rep. 2014. PMID: 24441388 Free PMC article.
Decreased extra-renal urate excretion is a common cause of hyperuricemia.
Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Inoue H, Okada C, Utsumi Y, Ikebuchi Y, Ito K, Nakamura M, Shinohara Y, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H. Ichida K, et al. Among authors: shimizu t. Nat Commun. 2012 Apr 3;3:764. doi: 10.1038/ncomms1756. Nat Commun. 2012. PMID: 22473008 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: shimizu t, shimizu s. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 Free PMC article.
Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
Nakayama A, Matsuo H, Shimizu T, Ogata H, Takada Y, Nakashima H, Nakamura T, Shimizu S, Chiba T, Sakiyama M, Ushiyama C, Takada T, Inoue K, Kawai S, Hishida A, Wakai K, Hamajima N, Ichida K, Sakurai Y, Kato Y, Shimizu T, Shinomiya N. Nakayama A, et al. Among authors: shimizu t, shimizu s. Hum Cell. 2013 Dec;26(4):133-6. doi: 10.1007/s13577-013-0073-8. Epub 2013 Aug 29. Hum Cell. 2013. PMID: 23990105 Free PMC article.
A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout.
Sakiyama M, Matsuo H, Shimizu S, Nakashima H, Nakayama A, Chiba T, Naito M, Takada T, Suzuki H, Hamajima N, Ichida K, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: shimizu t, shimizu s. Drug Metab Pharmacokinet. 2014;29(2):208-10. doi: 10.2133/dmpk.dmpk-13-nt-070. Epub 2013 Sep 10. Drug Metab Pharmacokinet. 2014. PMID: 24025986 Free article.
Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility.
Sakiyama M, Matsuo H, Shimizu S, Chiba T, Nakayama A, Takada Y, Nakamura T, Takada T, Morita E, Naito M, Wakai K, Inoue H, Tatsukawa S, Sato J, Shimono K, Makino T, Satoh T, Suzuki H, Kanai Y, Hamajima N, Sakurai Y, Ichida K, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: shimizu t, shimizu s. Hum Cell. 2014 Jan;27(1):1-4. doi: 10.1007/s13577-013-0081-8. Epub 2013 Dec 7. Hum Cell. 2014. PMID: 24318514 Free PMC article.
Common variants of cGKII/PRKG2 are not associated with gout susceptibility.
Sakiyama M, Matsuo H, Chiba T, Nakayama A, Nakamura T, Shimizu S, Morita E, Fukuda N, Nakashima H, Sakurai Y, Ichida K, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: shimizu t, shimizu s. J Rheumatol. 2014 Jul;41(7):1395-7. doi: 10.3899/jrheum.131548. Epub 2014 Jun 1. J Rheumatol. 2014. PMID: 24882840 Free article.
ABCG2 dysfunction increases the risk of renal overload hyperuricemia.
Matsuo H, Takada T, Nakayama A, Shimizu T, Sakiyama M, Shimizu S, Chiba T, Nakashima H, Nakamura T, Takada Y, Sakurai Y, Hosoya T, Shinomiya N, Ichida K. Matsuo H, et al. Among authors: shimizu t, shimizu s. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):266-74. doi: 10.1080/15257770.2013.866679. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940678
NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
Chiba T, Matsuo H, Kawamura Y, Nagamori S, Nishiyama T, Wei L, Nakayama A, Nakamura T, Sakiyama M, Takada T, Taketani Y, Suma S, Naito M, Oda T, Kumagai H, Moriyama Y, Ichida K, Shimizu T, Kanai Y, Shinomiya N. Chiba T, et al. Among authors: shimizu t. Arthritis Rheumatol. 2015 Jan;67(1):281-7. doi: 10.1002/art.38884. Arthritis Rheumatol. 2015. PMID: 25252215
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