Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population
East Asian genome-wide association studies (GWAS) for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. W...
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| creator | Sakai, Kensuke Imamura, Minako Tanaka, Yasushi Iwata, Minoru Hirose, Hiroshi Kaku, Kohei Maegawa, Hiroshi Watada, Hirotaka Tobe, Kazuyuki Kashiwagi, Atsunori Kawamori, Ryuzo Maeda, Shiro |
| description | East Asian genome-wide association studies (GWAS) for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population.
We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS) by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis.
With the exception of rs1535500 in KCNK16, all SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (p = 4.0 × 10(-4), OR = 1.05, 95% confidence interval: 1.02-1.09). In quantitative trait analyses, rs16955379 in CMIP was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits.
These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population. |
| doi_str_mv | 10.1371/journal.pone.0076317 |
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We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS) by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis.
With the exception of rs1535500 in KCNK16, all SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (p = 4.0 × 10(-4), OR = 1.05, 95% confidence interval: 1.02-1.09). In quantitative trait analyses, rs16955379 in CMIP was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits.
These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0076317</identifier><identifier>PMID: 24086726</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Confidence intervals ; Diabetes ; Diabetes mellitus ; Diabetes Mellitus, Type 2 - epidemiology ; Diabetes Mellitus, Type 2 - genetics ; Endocrinology ; Genetic Loci - genetics ; Genetic Predisposition to Disease - epidemiology ; Genetic Predisposition to Disease - genetics ; Genome-Wide Association Study ; Genomes ; Genotype ; Hepatocyte nuclear factor 4 ; Homeostasis ; Humans ; Internal medicine ; Japan - epidemiology ; Kidney diseases ; Laboratories ; Loci ; Logistic Models ; Medicine ; Meta-analysis ; Metabolism ; Odds Ratio ; Polymorphism, Single Nucleotide - genetics ; Population ; Regression analysis ; Replication ; Science ; Single-nucleotide polymorphism ; Statistical analysis ; Studies ; University graduates</subject><ispartof>PloS one, 2013-09, Vol.8 (9), p.e76317-e76317</ispartof><rights>2013 Sakai et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Sakai et al 2013 Sakai et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-cc66a242cc393710683ca3fc8fb347cba3b8d51fe9bc67732b4ca0ed955684d33</citedby><cites>FETCH-LOGICAL-c526t-cc66a242cc393710683ca3fc8fb347cba3b8d51fe9bc67732b4ca0ed955684d33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783369/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783369/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24086726$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sakai, Kensuke</creatorcontrib><creatorcontrib>Imamura, Minako</creatorcontrib><creatorcontrib>Tanaka, Yasushi</creatorcontrib><creatorcontrib>Iwata, Minoru</creatorcontrib><creatorcontrib>Hirose, Hiroshi</creatorcontrib><creatorcontrib>Kaku, Kohei</creatorcontrib><creatorcontrib>Maegawa, Hiroshi</creatorcontrib><creatorcontrib>Watada, Hirotaka</creatorcontrib><creatorcontrib>Tobe, Kazuyuki</creatorcontrib><creatorcontrib>Kashiwagi, Atsunori</creatorcontrib><creatorcontrib>Kawamori, Ryuzo</creatorcontrib><creatorcontrib>Maeda, Shiro</creatorcontrib><title>Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>East Asian genome-wide association studies (GWAS) for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population.
We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS) by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis.
With the exception of rs1535500 in KCNK16, all SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (p = 4.0 × 10(-4), OR = 1.05, 95% confidence interval: 1.02-1.09). In quantitative trait analyses, rs16955379 in CMIP was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits.
These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population.</description><subject>Confidence intervals</subject><subject>Diabetes</subject><subject>Diabetes mellitus</subject><subject>Diabetes Mellitus, Type 2 - epidemiology</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Endocrinology</subject><subject>Genetic Loci - genetics</subject><subject>Genetic Predisposition to Disease - epidemiology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Hepatocyte nuclear factor 4</subject><subject>Homeostasis</subject><subject>Humans</subject><subject>Internal medicine</subject><subject>Japan - epidemiology</subject><subject>Kidney diseases</subject><subject>Laboratories</subject><subject>Loci</subject><subject>Logistic Models</subject><subject>Medicine</subject><subject>Meta-analysis</subject><subject>Metabolism</subject><subject>Odds Ratio</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population</subject><subject>Regression analysis</subject><subject>Replication</subject><subject>Science</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>Studies</subject><subject>University graduates</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNptUl1vFCEUnRiNrdV_YJSkL77sClwGZl5MNk2tNU1M_IiPhAGmy4YdRmBq9hf4t2W706Y1PkG4555z7-FU1WuClwQEeb8JUxyUX45hsEuMBQcinlTHpAW64BTD0wf3o-pFShuMa2g4f14dUYYbLig_rv58taN3WmUXBpTyZHaoDxHltUUqpaDdoRJ61KJzlTJaJacGdPFz9W1hbHQ31iBfYOi3y2uUpqTtmF3nvMs7lAPKu9EiioxTnc02ITcghT6rUQ02WTSGcfK3Ci-rZ73yyb6az5Pqx8fz72efFldfLi7PVlcLXVOeF1pzriijWkNbTMC8Aa2g103fARO6U9A1pia9bTvNhQDaMa2wNW1d84YZgJPq7YF39CHJ2cMkCQMuGtK2dUFcHhAmqI0co9uquJNBOXn7EOK1VDE77a1UAspXCCss0axXrNG1oawjAjc1tIYWrg-z2tRtrdF2yFH5R6SPK4Nby-twI0E0ALwtBO9mghh-TTZluXXFYu-Lf2Haz80Aihg0BXr6D_T_27EDSseQUrT9_TAEy32u7rrkPldyzlVpe_NwkfumuyDBX-oOzQs</recordid><startdate>20130925</startdate><enddate>20130925</enddate><creator>Sakai, Kensuke</creator><creator>Imamura, Minako</creator><creator>Tanaka, Yasushi</creator><creator>Iwata, Minoru</creator><creator>Hirose, Hiroshi</creator><creator>Kaku, Kohei</creator><creator>Maegawa, Hiroshi</creator><creator>Watada, Hirotaka</creator><creator>Tobe, Kazuyuki</creator><creator>Kashiwagi, Atsunori</creator><creator>Kawamori, Ryuzo</creator><creator>Maeda, Shiro</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20130925</creationdate><title>Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population</title><author>Sakai, Kensuke ; Imamura, Minako ; Tanaka, Yasushi ; Iwata, Minoru ; Hirose, Hiroshi ; Kaku, Kohei ; Maegawa, Hiroshi ; Watada, Hirotaka ; Tobe, Kazuyuki ; Kashiwagi, Atsunori ; Kawamori, Ryuzo ; Maeda, Shiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-cc66a242cc393710683ca3fc8fb347cba3b8d51fe9bc67732b4ca0ed955684d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Confidence intervals</topic><topic>Diabetes</topic><topic>Diabetes mellitus</topic><topic>Diabetes Mellitus, Type 2 - 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However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population.
We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS) by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis.
With the exception of rs1535500 in KCNK16, all SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (p = 4.0 × 10(-4), OR = 1.05, 95% confidence interval: 1.02-1.09). In quantitative trait analyses, rs16955379 in CMIP was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits.
These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24086726</pmid><doi>10.1371/journal.pone.0076317</doi><oa>free_for_read</oa></addata></record> |
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| issn | 1932-6203 1932-6203 |
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| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; Full-Text Journals in Chemistry (Open access); PubMed Central; Directory of Open Access Journals; EZB Electronic Journals Library |
| subjects | Confidence intervals Diabetes Diabetes mellitus Diabetes Mellitus, Type 2 - epidemiology Diabetes Mellitus, Type 2 - genetics Endocrinology Genetic Loci - genetics Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Genome-Wide Association Study Genomes Genotype Hepatocyte nuclear factor 4 Homeostasis Humans Internal medicine Japan - epidemiology Kidney diseases Laboratories Loci Logistic Models Medicine Meta-analysis Metabolism Odds Ratio Polymorphism, Single Nucleotide - genetics Population Regression analysis Replication Science Single-nucleotide polymorphism Statistical analysis Studies University graduates |
| title | Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population |
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