A at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population
Insulin resistance is a feature of type 2 diabetes. Resistin, secreted from adipocytes, causes insulin resistance in mice. We previously reported that the G/G genotype of single nucleotide polymorphism (SNP) at -420 (rs1862513) in the human resistin gene (RETN) increased susceptibility to type 2 dia...
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| creator | Onuma, Hiroshi Tabara, Yasuharu Kawamura, Ryoichi Tanaka, Takashi Ohashi, Jun Nishida, Wataru Takata, Yasunori Ochi, Masaaki Yamada, Kazuya Kawamoto, Ryuichi Kohara, Katsuhiko Miki, Tetsuro Makino, Hideichi Osawa, Haruhiko |
| description | Insulin resistance is a feature of type 2 diabetes. Resistin, secreted from adipocytes, causes insulin resistance in mice. We previously reported that the G/G genotype of single nucleotide polymorphism (SNP) at -420 (rs1862513) in the human resistin gene (RETN) increased susceptibility to type 2 diabetes by enhancing its promoter activity. Plasma resistin was highest in Japanese subjects with G/G genotype, followed by C/G, and C/C. In this study, we cross-sectionally analyzed plasma resistin and SNPs in the RETN region in 2,019 community-dwelling Japanese subjects. Plasma resistin was associated with SNP-638 (rs34861192), SNP-537 (rs34124816), SNP-420, SNP-358 (rs3219175), SNP+299 (rs3745367), and SNP+1263 (rs3745369) (P |
| doi_str_mv | 10.1371/journal.pone.0009718 |
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Resistin, secreted from adipocytes, causes insulin resistance in mice. We previously reported that the G/G genotype of single nucleotide polymorphism (SNP) at -420 (rs1862513) in the human resistin gene (RETN) increased susceptibility to type 2 diabetes by enhancing its promoter activity. Plasma resistin was highest in Japanese subjects with G/G genotype, followed by C/G, and C/C. In this study, we cross-sectionally analyzed plasma resistin and SNPs in the RETN region in 2,019 community-dwelling Japanese subjects. Plasma resistin was associated with SNP-638 (rs34861192), SNP-537 (rs34124816), SNP-420, SNP-358 (rs3219175), SNP+299 (rs3745367), and SNP+1263 (rs3745369) (P<10(-13) in all cases). SNP-638, SNP -420, SNP-358, and SNP+157 were in the same linkage disequilibrium (LD) block. SNP-358 and SNP-638 were nearly in complete LD (r(2) = 0.98), and were tightly correlated with SNP-420 (r(2) = 0.50, and 0.51, respectively). The correlation between either SNP-358 (or SNP-638) or SNP-420 and plasma resistin appeared to be strong (risk alleles for high plasma resistin; A at SNP-358, r(2) = 0.5224, P = 4.94x10(-324); G at SNP-420, r(2) = 0.2616, P = 1.71x10(-133)). In haplotypes determined by SNP-420 and SNP-358, the estimated frequencies for C-G, G-A, and G-G were 0.6700, 0.2005, and 0.1284, respectively, and C-A was rare (0.0011), suggesting that subjects with A at -358, generally had G at -420. This G-A haplotype conferred the highest plasma resistin (8.24 ng/ml difference/allele compared to C-G, P<0.0001). In THP-1 cells, the RETN promoter with the G-A haplotype showed the highest activity. Nuclear proteins specifically recognized one base difference at SNP-358, but not at SNP-638. Therefore, A at -358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population. In Caucasians, the association between SNP-420 and plasma resistin is not strong, and A at -358 may not exist, suggesting that SNP-358 could explain this ethnic difference.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0009718</identifier><identifier>PMID: 20300528</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adipocytes ; Alleles ; Bioinformatics ; Cell Line ; Confidence intervals ; Cross-Sectional Studies ; Diabetes ; Diabetes and Endocrinology/Type 2 Diabetes ; Diabetes mellitus ; Disease susceptibility ; Ethnic factors ; Ethnic Groups ; Gene polymorphism ; Genetic aspects ; Genetics and Genomics/Gene Expression ; Genetics and Genomics/Medical Genetics ; Genetics and Genomics/Population Genetics ; Genomes ; Genotype ; Geriatrics ; Haplotypes ; Homozygote ; Humans ; Insulin ; Insulin Resistance ; Japan ; Linkage Disequilibrium ; Medicine ; Metabolism ; Oxidative stress ; Plasma ; Plasmas (physics) ; Polymorphism ; Polymorphism, Single Nucleotide ; Population ; Promoter Regions, Genetic ; Proteins ; Regression Analysis ; Resistin - blood ; Resistin - genetics ; Science ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Studies ; Type 2 diabetes ; University graduates</subject><ispartof>PloS one, 2010-03, Vol.5 (3), p.e9718-e9718</ispartof><rights>COPYRIGHT 2010 Public Library of Science</rights><rights>2010 Onuma 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>Onuma et al. 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c757t-d557d0240dadfae63fec541fc11092bca93a35bac7590ba2c8055047ae7b08353</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838794/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838794/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79569,79570</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20300528$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Onuma, Hiroshi</creatorcontrib><creatorcontrib>Tabara, Yasuharu</creatorcontrib><creatorcontrib>Kawamura, Ryoichi</creatorcontrib><creatorcontrib>Tanaka, Takashi</creatorcontrib><creatorcontrib>Ohashi, Jun</creatorcontrib><creatorcontrib>Nishida, Wataru</creatorcontrib><creatorcontrib>Takata, Yasunori</creatorcontrib><creatorcontrib>Ochi, Masaaki</creatorcontrib><creatorcontrib>Yamada, Kazuya</creatorcontrib><creatorcontrib>Kawamoto, Ryuichi</creatorcontrib><creatorcontrib>Kohara, Katsuhiko</creatorcontrib><creatorcontrib>Miki, Tetsuro</creatorcontrib><creatorcontrib>Makino, Hideichi</creatorcontrib><creatorcontrib>Osawa, Haruhiko</creatorcontrib><title>A at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Insulin resistance is a feature of type 2 diabetes. Resistin, secreted from adipocytes, causes insulin resistance in mice. We previously reported that the G/G genotype of single nucleotide polymorphism (SNP) at -420 (rs1862513) in the human resistin gene (RETN) increased susceptibility to type 2 diabetes by enhancing its promoter activity. Plasma resistin was highest in Japanese subjects with G/G genotype, followed by C/G, and C/C. In this study, we cross-sectionally analyzed plasma resistin and SNPs in the RETN region in 2,019 community-dwelling Japanese subjects. Plasma resistin was associated with SNP-638 (rs34861192), SNP-537 (rs34124816), SNP-420, SNP-358 (rs3219175), SNP+299 (rs3745367), and SNP+1263 (rs3745369) (P<10(-13) in all cases). SNP-638, SNP -420, SNP-358, and SNP+157 were in the same linkage disequilibrium (LD) block. SNP-358 and SNP-638 were nearly in complete LD (r(2) = 0.98), and were tightly correlated with SNP-420 (r(2) = 0.50, and 0.51, respectively). The correlation between either SNP-358 (or SNP-638) or SNP-420 and plasma resistin appeared to be strong (risk alleles for high plasma resistin; A at SNP-358, r(2) = 0.5224, P = 4.94x10(-324); G at SNP-420, r(2) = 0.2616, P = 1.71x10(-133)). In haplotypes determined by SNP-420 and SNP-358, the estimated frequencies for C-G, G-A, and G-G were 0.6700, 0.2005, and 0.1284, respectively, and C-A was rare (0.0011), suggesting that subjects with A at -358, generally had G at -420. This G-A haplotype conferred the highest plasma resistin (8.24 ng/ml difference/allele compared to C-G, P<0.0001). In THP-1 cells, the RETN promoter with the G-A haplotype showed the highest activity. Nuclear proteins specifically recognized one base difference at SNP-358, but not at SNP-638. Therefore, A at -358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population. In Caucasians, the association between SNP-420 and plasma resistin is not strong, and A at -358 may not exist, suggesting that SNP-358 could explain this ethnic difference.</description><subject>Adipocytes</subject><subject>Alleles</subject><subject>Bioinformatics</subject><subject>Cell Line</subject><subject>Confidence intervals</subject><subject>Cross-Sectional Studies</subject><subject>Diabetes</subject><subject>Diabetes and Endocrinology/Type 2 Diabetes</subject><subject>Diabetes mellitus</subject><subject>Disease susceptibility</subject><subject>Ethnic factors</subject><subject>Ethnic Groups</subject><subject>Gene polymorphism</subject><subject>Genetic aspects</subject><subject>Genetics and Genomics/Gene Expression</subject><subject>Genetics and Genomics/Medical Genetics</subject><subject>Genetics and Genomics/Population Genetics</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Geriatrics</subject><subject>Haplotypes</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Insulin</subject><subject>Insulin Resistance</subject><subject>Japan</subject><subject>Linkage Disequilibrium</subject><subject>Medicine</subject><subject>Metabolism</subject><subject>Oxidative stress</subject><subject>Plasma</subject><subject>Plasmas (physics)</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Promoter Regions, Genetic</subject><subject>Proteins</subject><subject>Regression Analysis</subject><subject>Resistin - blood</subject><subject>Resistin - genetics</subject><subject>Science</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Studies</subject><subject>Type 2 diabetes</subject><subject>University 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at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population</title><author>Onuma, Hiroshi ; Tabara, Yasuharu ; Kawamura, Ryoichi ; Tanaka, Takashi ; Ohashi, Jun ; Nishida, Wataru ; Takata, Yasunori ; Ochi, Masaaki ; Yamada, Kazuya ; Kawamoto, Ryuichi ; Kohara, Katsuhiko ; Miki, Tetsuro ; Makino, Hideichi ; Osawa, Haruhiko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c757t-d557d0240dadfae63fec541fc11092bca93a35bac7590ba2c8055047ae7b08353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adipocytes</topic><topic>Alleles</topic><topic>Bioinformatics</topic><topic>Cell Line</topic><topic>Confidence intervals</topic><topic>Cross-Sectional Studies</topic><topic>Diabetes</topic><topic>Diabetes and Endocrinology/Type 2 Diabetes</topic><topic>Diabetes mellitus</topic><topic>Disease susceptibility</topic><topic>Ethnic factors</topic><topic>Ethnic Groups</topic><topic>Gene polymorphism</topic><topic>Genetic aspects</topic><topic>Genetics and Genomics/Gene Expression</topic><topic>Genetics and Genomics/Medical Genetics</topic><topic>Genetics and Genomics/Population Genetics</topic><topic>Genomes</topic><topic>Genotype</topic><topic>Geriatrics</topic><topic>Haplotypes</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Insulin</topic><topic>Insulin Resistance</topic><topic>Japan</topic><topic>Linkage Disequilibrium</topic><topic>Medicine</topic><topic>Metabolism</topic><topic>Oxidative stress</topic><topic>Plasma</topic><topic>Plasmas (physics)</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Promoter Regions, Genetic</topic><topic>Proteins</topic><topic>Regression Analysis</topic><topic>Resistin - blood</topic><topic>Resistin - genetics</topic><topic>Science</topic><topic>Single nucleotide 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(New)</collection><collection>ProQuest One Academic (New)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Onuma, Hiroshi</au><au>Tabara, Yasuharu</au><au>Kawamura, Ryoichi</au><au>Tanaka, Takashi</au><au>Ohashi, Jun</au><au>Nishida, Wataru</au><au>Takata, Yasunori</au><au>Ochi, Masaaki</au><au>Yamada, Kazuya</au><au>Kawamoto, Ryuichi</au><au>Kohara, Katsuhiko</au><au>Miki, Tetsuro</au><au>Makino, Hideichi</au><au>Osawa, Haruhiko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2010-03-16</date><risdate>2010</risdate><volume>5</volume><issue>3</issue><spage>e9718</spage><epage>e9718</epage><pages>e9718-e9718</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Insulin resistance is a feature of type 2 diabetes. Resistin, secreted from adipocytes, causes insulin resistance in mice. We previously reported that the G/G genotype of single nucleotide polymorphism (SNP) at -420 (rs1862513) in the human resistin gene (RETN) increased susceptibility to type 2 diabetes by enhancing its promoter activity. Plasma resistin was highest in Japanese subjects with G/G genotype, followed by C/G, and C/C. In this study, we cross-sectionally analyzed plasma resistin and SNPs in the RETN region in 2,019 community-dwelling Japanese subjects. Plasma resistin was associated with SNP-638 (rs34861192), SNP-537 (rs34124816), SNP-420, SNP-358 (rs3219175), SNP+299 (rs3745367), and SNP+1263 (rs3745369) (P<10(-13) in all cases). SNP-638, SNP -420, SNP-358, and SNP+157 were in the same linkage disequilibrium (LD) block. SNP-358 and SNP-638 were nearly in complete LD (r(2) = 0.98), and were tightly correlated with SNP-420 (r(2) = 0.50, and 0.51, respectively). The correlation between either SNP-358 (or SNP-638) or SNP-420 and plasma resistin appeared to be strong (risk alleles for high plasma resistin; A at SNP-358, r(2) = 0.5224, P = 4.94x10(-324); G at SNP-420, r(2) = 0.2616, P = 1.71x10(-133)). In haplotypes determined by SNP-420 and SNP-358, the estimated frequencies for C-G, G-A, and G-G were 0.6700, 0.2005, and 0.1284, respectively, and C-A was rare (0.0011), suggesting that subjects with A at -358, generally had G at -420. This G-A haplotype conferred the highest plasma resistin (8.24 ng/ml difference/allele compared to C-G, P<0.0001). In THP-1 cells, the RETN promoter with the G-A haplotype showed the highest activity. Nuclear proteins specifically recognized one base difference at SNP-358, but not at SNP-638. Therefore, A at -358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population. In Caucasians, the association between SNP-420 and plasma resistin is not strong, and A at -358 may not exist, suggesting that SNP-358 could explain this ethnic difference.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>20300528</pmid><doi>10.1371/journal.pone.0009718</doi><tpages>e9718</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2010-03, Vol.5 (3), p.e9718-e9718 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1289397389 |
| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adipocytes Alleles Bioinformatics Cell Line Confidence intervals Cross-Sectional Studies Diabetes Diabetes and Endocrinology/Type 2 Diabetes Diabetes mellitus Disease susceptibility Ethnic factors Ethnic Groups Gene polymorphism Genetic aspects Genetics and Genomics/Gene Expression Genetics and Genomics/Medical Genetics Genetics and Genomics/Population Genetics Genomes Genotype Geriatrics Haplotypes Homozygote Humans Insulin Insulin Resistance Japan Linkage Disequilibrium Medicine Metabolism Oxidative stress Plasma Plasmas (physics) Polymorphism Polymorphism, Single Nucleotide Population Promoter Regions, Genetic Proteins Regression Analysis Resistin - blood Resistin - genetics Science Single nucleotide polymorphisms Single-nucleotide polymorphism Studies Type 2 diabetes University graduates |
| title | A at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population |
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