Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population
PDZ domain containing 1 (PDZK1) is a scaffold protein that organizes a transportsome and regulates several transporters' functions including urate and drug transporters. Therefore, PDZK1 in renal proximal tubules may affect serum uric acid levels through PDZK1-binding renal urate transporters....
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Veröffentlicht in: | Drug metabolism and pharmacokinetics 2016-12, Vol.31 (6), p.464-466 |
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creator | Higashino, Toshihide Matsuo, Hirotaka Sakiyama, Masayuki Nakayama, Akiyoshi Nakamura, Takahiro Takada, Tappei Ogata, Hiraku Kawamura, Yusuke Kawaguchi, Makoto Naito, Mariko Kawai, Sayo Takada, Yuzo Ooyama, Hiroshi Suzuki, Hiroshi Shinomiya, Nariyoshi |
description | PDZ domain containing 1 (PDZK1) is a scaffold protein that organizes a transportsome and regulates several transporters' functions including urate and drug transporters. Therefore, PDZK1 in renal proximal tubules may affect serum uric acid levels through PDZK1-binding renal urate transporters. Two previous studies in Japanese male population reported that a PDZK1 single nucleotide polymorphism (SNP), rs12129861, was not associated with gout. In the present study, we performed a further association analysis between gout and rs12129861 in a different large-scale Japanese male population and a meta-analysis with previous Japanese population studies. We genotyped rs12129861 in 1210 gout cases and 1224 controls of a Japanese male population by TaqMan assay. As a result, we showed that rs12129861 was significantly associated with gout susceptibility (P = 0.016, odds ratio [OR] = 0.80, 95% confidence interval [CI] 0.67–0.96). The result of the meta-analysis among Japanese populations also showed a significant association (P = 0.013, OR = 0.85, 95%CI 0.75–0.97). Our findings show the significant association between gout susceptibility and common variant of PDZK1 which reportedly regulates the functions of urate transporters in the urate transportsome. |
doi_str_mv | 10.1016/j.dmpk.2016.07.004 |
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Therefore, PDZK1 in renal proximal tubules may affect serum uric acid levels through PDZK1-binding renal urate transporters. Two previous studies in Japanese male population reported that a PDZK1 single nucleotide polymorphism (SNP), rs12129861, was not associated with gout. In the present study, we performed a further association analysis between gout and rs12129861 in a different large-scale Japanese male population and a meta-analysis with previous Japanese population studies. We genotyped rs12129861 in 1210 gout cases and 1224 controls of a Japanese male population by TaqMan assay. As a result, we showed that rs12129861 was significantly associated with gout susceptibility (P = 0.016, odds ratio [OR] = 0.80, 95% confidence interval [CI] 0.67–0.96). The result of the meta-analysis among Japanese populations also showed a significant association (P = 0.013, OR = 0.85, 95%CI 0.75–0.97). Our findings show the significant association between gout susceptibility and common variant of PDZK1 which reportedly regulates the functions of urate transporters in the urate transportsome.</description><identifier>ISSN: 1347-4367</identifier><identifier>EISSN: 1880-0920</identifier><identifier>DOI: 10.1016/j.dmpk.2016.07.004</identifier><identifier>PMID: 27720648</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Adult ; Carrier Proteins - genetics ; Case-Control Studies ; Drug transportsome ; Genetic Predisposition to Disease ; Gout - genetics ; Humans ; Japan ; Male ; Middle Aged ; PDZK1 ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Single nucleotide polymorphism ; Urate transportsome ; Uric acid</subject><ispartof>Drug metabolism and pharmacokinetics, 2016-12, Vol.31 (6), p.464-466</ispartof><rights>2016 The Japanese Society for the Study of Xenobiotics</rights><rights>Copyright © 2016 The Japanese Society for the Study of Xenobiotics. 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Matsuo, Hirotaka ; Sakiyama, Masayuki ; Nakayama, Akiyoshi ; Nakamura, Takahiro ; Takada, Tappei ; Ogata, Hiraku ; Kawamura, Yusuke ; Kawaguchi, Makoto ; Naito, Mariko ; Kawai, Sayo ; Takada, Yuzo ; Ooyama, Hiroshi ; Suzuki, Hiroshi ; Shinomiya, Nariyoshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c424t-52b6211790388d24ce50bf8d9d7caaa7efd8683e0d5162415790659adb8381553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Carrier Proteins - genetics</topic><topic>Case-Control Studies</topic><topic>Drug transportsome</topic><topic>Genetic Predisposition to Disease</topic><topic>Gout - genetics</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Middle Aged</topic><topic>PDZK1</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Reproducibility of Results</topic><topic>Single nucleotide polymorphism</topic><topic>Urate transportsome</topic><topic>Uric acid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Higashino, Toshihide</creatorcontrib><creatorcontrib>Matsuo, Hirotaka</creatorcontrib><creatorcontrib>Sakiyama, Masayuki</creatorcontrib><creatorcontrib>Nakayama, Akiyoshi</creatorcontrib><creatorcontrib>Nakamura, Takahiro</creatorcontrib><creatorcontrib>Takada, Tappei</creatorcontrib><creatorcontrib>Ogata, Hiraku</creatorcontrib><creatorcontrib>Kawamura, Yusuke</creatorcontrib><creatorcontrib>Kawaguchi, Makoto</creatorcontrib><creatorcontrib>Naito, Mariko</creatorcontrib><creatorcontrib>Kawai, Sayo</creatorcontrib><creatorcontrib>Takada, Yuzo</creatorcontrib><creatorcontrib>Ooyama, Hiroshi</creatorcontrib><creatorcontrib>Suzuki, Hiroshi</creatorcontrib><creatorcontrib>Shinomiya, Nariyoshi</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Drug metabolism and pharmacokinetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Higashino, Toshihide</au><au>Matsuo, Hirotaka</au><au>Sakiyama, Masayuki</au><au>Nakayama, Akiyoshi</au><au>Nakamura, Takahiro</au><au>Takada, Tappei</au><au>Ogata, Hiraku</au><au>Kawamura, Yusuke</au><au>Kawaguchi, Makoto</au><au>Naito, Mariko</au><au>Kawai, Sayo</au><au>Takada, Yuzo</au><au>Ooyama, Hiroshi</au><au>Suzuki, Hiroshi</au><au>Shinomiya, Nariyoshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population</atitle><jtitle>Drug metabolism and pharmacokinetics</jtitle><addtitle>Drug Metab Pharmacokinet</addtitle><date>2016-12</date><risdate>2016</risdate><volume>31</volume><issue>6</issue><spage>464</spage><epage>466</epage><pages>464-466</pages><issn>1347-4367</issn><eissn>1880-0920</eissn><abstract>PDZ domain containing 1 (PDZK1) is a scaffold protein that organizes a transportsome and regulates several transporters' functions including urate and drug transporters. 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Our findings show the significant association between gout susceptibility and common variant of PDZK1 which reportedly regulates the functions of urate transporters in the urate transportsome.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>27720648</pmid><doi>10.1016/j.dmpk.2016.07.004</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0001-7156-2455</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adult Carrier Proteins - genetics Case-Control Studies Drug transportsome Genetic Predisposition to Disease Gout - genetics Humans Japan Male Middle Aged PDZK1 Polymorphism, Single Nucleotide Reproducibility of Results Single nucleotide polymorphism Urate transportsome Uric acid |
title | Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population |
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