SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population
Many genetic association studies support a contribution of genetic variants in the KCNJ11 - ABCC8 gene locus to type 2 diabetes (T2D) susceptibility in Caucasians. In non-Caucasian populations, however, there have been only a few association studies, and discordant results were obtained. Herein, we...
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| Veröffentlicht in: | Journal of human genetics 2007-10, Vol.52 (10), p.781-793 |
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| creator | Sakamoto, Yukiko Inoue, Hiroshi Keshavarz, Parvaneh Miyawaki, Katsuyuki Yamaguchi, Yuka Moritani, Maki Kunika, Kiyoshi Nakamura, Naoto Yoshikawa, Toshikazu Yasui, Natsuo Shiota, Hiroshi Tanahashi, Toshihito Itakura, Mitsuo |
| description | Many genetic association studies support a contribution of genetic variants in the
KCNJ11
-
ABCC8
gene locus to type 2 diabetes (T2D) susceptibility in Caucasians. In non-Caucasian populations, however, there have been only a few association studies, and discordant results were obtained. Herein, we selected a total of 31 SNPs covering a 211.3-kb region of the
KCNJ11
-
ABCC8
locus, characterized the patterns of linkage disequilibrium (LD) and haplotype structure, and performed a case-control association study in a Japanese population consisting of 909 T2D patients and 893 control subjects. We found significant associations between eight SNPs, including the
KCNJ11
E23K and
ABCC8
S1369A variants, and T2D. These disease-associated SNPs were genetically indistinguishable because of the presence of strong LD, as found previously in Caucasians. For the
KCNJ11
E23K variant, the most significant association was obtained under a dominant genetic model (OR 1.32, 95% CI 1.09–1.60,
P =
0.004). A meta-analysis of East Asian studies, comprising a total of 3,357 T2D patients (77.4% Japanese) and 2,836 control subjects (77.8% Japanese), confirmed the significant role of the
KCNJ11
E23K variant in T2D susceptibility. Furthermore, we found evidence suggesting that the
KCNJ11
E23K genotype is independently associated with higher blood-pressure levels. |
| doi_str_mv | 10.1007/s10038-007-0190-x |
| format | Article |
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KCNJ11
-
ABCC8
gene locus to type 2 diabetes (T2D) susceptibility in Caucasians. In non-Caucasian populations, however, there have been only a few association studies, and discordant results were obtained. Herein, we selected a total of 31 SNPs covering a 211.3-kb region of the
KCNJ11
-
ABCC8
locus, characterized the patterns of linkage disequilibrium (LD) and haplotype structure, and performed a case-control association study in a Japanese population consisting of 909 T2D patients and 893 control subjects. We found significant associations between eight SNPs, including the
KCNJ11
E23K and
ABCC8
S1369A variants, and T2D. These disease-associated SNPs were genetically indistinguishable because of the presence of strong LD, as found previously in Caucasians. For the
KCNJ11
E23K variant, the most significant association was obtained under a dominant genetic model (OR 1.32, 95% CI 1.09–1.60,
P =
0.004). A meta-analysis of East Asian studies, comprising a total of 3,357 T2D patients (77.4% Japanese) and 2,836 control subjects (77.8% Japanese), confirmed the significant role of the
KCNJ11
E23K variant in T2D susceptibility. Furthermore, we found evidence suggesting that the
KCNJ11
E23K genotype is independently associated with higher blood-pressure levels.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-007-0190-x</identifier><identifier>PMID: 17823772</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>ABCC8 gene ; Aged ; Asian Continental Ancestry Group - genetics ; ATP-Binding Cassette Transporters - genetics ; Biomedicine ; Blood pressure ; Blood Pressure - genetics ; Diabetes ; Diabetes mellitus (non-insulin dependent) ; Diabetes Mellitus, Type 2 - genetics ; Female ; Gene Expression ; Gene Function ; Gene Therapy ; Genetic diversity ; Genotypes ; Haplotypes ; Human Genetics ; Humans ; Japan ; Linkage disequilibrium ; Male ; Middle Aged ; Molecular Medicine ; Original Article ; Polymorphism, Single Nucleotide ; Population genetics ; Population studies ; Potassium Channels - genetics ; Potassium Channels, Inwardly Rectifying - genetics ; Receptors, Drug - genetics ; Single-nucleotide polymorphism ; Sulfonylurea Receptors</subject><ispartof>Journal of human genetics, 2007-10, Vol.52 (10), p.781-793</ispartof><rights>The Japan Society of Human Genetics and Springer 2007</rights><rights>The Japan Society of Human Genetics and Springer 2007.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c437t-f0a4e303f3f9f0f9ef276604477bc38c17037bb69ee7a6520e68b3221e04bb6b3</citedby><cites>FETCH-LOGICAL-c437t-f0a4e303f3f9f0f9ef276604477bc38c17037bb69ee7a6520e68b3221e04bb6b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10038-007-0190-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10038-007-0190-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17823772$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sakamoto, Yukiko</creatorcontrib><creatorcontrib>Inoue, Hiroshi</creatorcontrib><creatorcontrib>Keshavarz, Parvaneh</creatorcontrib><creatorcontrib>Miyawaki, Katsuyuki</creatorcontrib><creatorcontrib>Yamaguchi, Yuka</creatorcontrib><creatorcontrib>Moritani, Maki</creatorcontrib><creatorcontrib>Kunika, Kiyoshi</creatorcontrib><creatorcontrib>Nakamura, Naoto</creatorcontrib><creatorcontrib>Yoshikawa, Toshikazu</creatorcontrib><creatorcontrib>Yasui, Natsuo</creatorcontrib><creatorcontrib>Shiota, Hiroshi</creatorcontrib><creatorcontrib>Tanahashi, Toshihito</creatorcontrib><creatorcontrib>Itakura, Mitsuo</creatorcontrib><title>SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>Many genetic association studies support a contribution of genetic variants in the
KCNJ11
-
ABCC8
gene locus to type 2 diabetes (T2D) susceptibility in Caucasians. In non-Caucasian populations, however, there have been only a few association studies, and discordant results were obtained. Herein, we selected a total of 31 SNPs covering a 211.3-kb region of the
KCNJ11
-
ABCC8
locus, characterized the patterns of linkage disequilibrium (LD) and haplotype structure, and performed a case-control association study in a Japanese population consisting of 909 T2D patients and 893 control subjects. We found significant associations between eight SNPs, including the
KCNJ11
E23K and
ABCC8
S1369A variants, and T2D. These disease-associated SNPs were genetically indistinguishable because of the presence of strong LD, as found previously in Caucasians. For the
KCNJ11
E23K variant, the most significant association was obtained under a dominant genetic model (OR 1.32, 95% CI 1.09–1.60,
P =
0.004). A meta-analysis of East Asian studies, comprising a total of 3,357 T2D patients (77.4% Japanese) and 2,836 control subjects (77.8% Japanese), confirmed the significant role of the
KCNJ11
E23K variant in T2D susceptibility. Furthermore, we found evidence suggesting that the
KCNJ11
E23K genotype is independently associated with higher blood-pressure levels.</description><subject>ABCC8 gene</subject><subject>Aged</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>Biomedicine</subject><subject>Blood pressure</subject><subject>Blood Pressure - genetics</subject><subject>Diabetes</subject><subject>Diabetes mellitus (non-insulin dependent)</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic diversity</subject><subject>Genotypes</subject><subject>Haplotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Japan</subject><subject>Linkage disequilibrium</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Medicine</subject><subject>Original Article</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population genetics</subject><subject>Population studies</subject><subject>Potassium Channels - genetics</subject><subject>Potassium Channels, Inwardly Rectifying - genetics</subject><subject>Receptors, Drug - genetics</subject><subject>Single-nucleotide polymorphism</subject><subject>Sulfonylurea Receptors</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kUtr3TAQhUVJaB7tD-gmCALdKdHLkr1MTPNqSAttoTsh2-PEwddyNHYekB8f3d5LAoFupIP0nTMDh5Avgh8Izu0hplPlLEnGRcHZ4weyLbTKmFTy78Y_rVkmjNgiO4i3PNHSyo9kS9hcKmvlNnn-dfUTaTfQ6Qbo9_LqQgh2dFyWOb2GAWgf6hmpj0A9Yqg7P0FDH7rphk5PI1BJm85XMEFihoZWfQgNHSMgzsnSwz30r-EXfvQDINAxjHPvpy4Mn8hm63uEz-t7l_w5-fa7PGOXP07Py6NLVmtlJ9Zyr0Fx1aq2aHlbQCutMVxra6ta5bWwXNmqMgWA9SaTHExeKSkFcJ2eK7VLvq5yxxjuZsDJLTqsoe_TQmFGZ3Kl8qwwCdx_B96GOQ5pNye1zIzQIlOJEiuqjgExQuvG2C18fHKCu2UxblWMW8plMe4xefbWyXO1gObNsW4iAXIFYPoariG-jf5_6gtvqJei</recordid><startdate>20071001</startdate><enddate>20071001</enddate><creator>Sakamoto, Yukiko</creator><creator>Inoue, Hiroshi</creator><creator>Keshavarz, Parvaneh</creator><creator>Miyawaki, Katsuyuki</creator><creator>Yamaguchi, Yuka</creator><creator>Moritani, Maki</creator><creator>Kunika, Kiyoshi</creator><creator>Nakamura, Naoto</creator><creator>Yoshikawa, Toshikazu</creator><creator>Yasui, Natsuo</creator><creator>Shiota, Hiroshi</creator><creator>Tanahashi, Toshihito</creator><creator>Itakura, Mitsuo</creator><general>Springer Japan</general><general>Nature Publishing Group</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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20071001</creationdate><title>SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population</title><author>Sakamoto, Yukiko ; Inoue, Hiroshi ; Keshavarz, Parvaneh ; Miyawaki, Katsuyuki ; Yamaguchi, Yuka ; Moritani, Maki ; Kunika, Kiyoshi ; Nakamura, Naoto ; Yoshikawa, Toshikazu ; Yasui, Natsuo ; Shiota, Hiroshi ; Tanahashi, Toshihito ; Itakura, Mitsuo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c437t-f0a4e303f3f9f0f9ef276604477bc38c17037bb69ee7a6520e68b3221e04bb6b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>ABCC8 gene</topic><topic>Aged</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>Biomedicine</topic><topic>Blood pressure</topic><topic>Blood Pressure - genetics</topic><topic>Diabetes</topic><topic>Diabetes mellitus (non-insulin dependent)</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic diversity</topic><topic>Genotypes</topic><topic>Haplotypes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Japan</topic><topic>Linkage disequilibrium</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Medicine</topic><topic>Original Article</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population genetics</topic><topic>Population studies</topic><topic>Potassium Channels - genetics</topic><topic>Potassium Channels, Inwardly Rectifying - genetics</topic><topic>Receptors, Drug - genetics</topic><topic>Single-nucleotide polymorphism</topic><topic>Sulfonylurea Receptors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sakamoto, Yukiko</creatorcontrib><creatorcontrib>Inoue, Hiroshi</creatorcontrib><creatorcontrib>Keshavarz, Parvaneh</creatorcontrib><creatorcontrib>Miyawaki, Katsuyuki</creatorcontrib><creatorcontrib>Yamaguchi, Yuka</creatorcontrib><creatorcontrib>Moritani, Maki</creatorcontrib><creatorcontrib>Kunika, Kiyoshi</creatorcontrib><creatorcontrib>Nakamura, Naoto</creatorcontrib><creatorcontrib>Yoshikawa, Toshikazu</creatorcontrib><creatorcontrib>Yasui, Natsuo</creatorcontrib><creatorcontrib>Shiota, Hiroshi</creatorcontrib><creatorcontrib>Tanahashi, Toshihito</creatorcontrib><creatorcontrib>Itakura, Mitsuo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sakamoto, Yukiko</au><au>Inoue, Hiroshi</au><au>Keshavarz, Parvaneh</au><au>Miyawaki, Katsuyuki</au><au>Yamaguchi, Yuka</au><au>Moritani, Maki</au><au>Kunika, Kiyoshi</au><au>Nakamura, Naoto</au><au>Yoshikawa, Toshikazu</au><au>Yasui, Natsuo</au><au>Shiota, Hiroshi</au><au>Tanahashi, Toshihito</au><au>Itakura, Mitsuo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2007-10-01</date><risdate>2007</risdate><volume>52</volume><issue>10</issue><spage>781</spage><epage>793</epage><pages>781-793</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Many genetic association studies support a contribution of genetic variants in the
KCNJ11
-
ABCC8
gene locus to type 2 diabetes (T2D) susceptibility in Caucasians. In non-Caucasian populations, however, there have been only a few association studies, and discordant results were obtained. Herein, we selected a total of 31 SNPs covering a 211.3-kb region of the
KCNJ11
-
ABCC8
locus, characterized the patterns of linkage disequilibrium (LD) and haplotype structure, and performed a case-control association study in a Japanese population consisting of 909 T2D patients and 893 control subjects. We found significant associations between eight SNPs, including the
KCNJ11
E23K and
ABCC8
S1369A variants, and T2D. These disease-associated SNPs were genetically indistinguishable because of the presence of strong LD, as found previously in Caucasians. For the
KCNJ11
E23K variant, the most significant association was obtained under a dominant genetic model (OR 1.32, 95% CI 1.09–1.60,
P =
0.004). A meta-analysis of East Asian studies, comprising a total of 3,357 T2D patients (77.4% Japanese) and 2,836 control subjects (77.8% Japanese), confirmed the significant role of the
KCNJ11
E23K variant in T2D susceptibility. Furthermore, we found evidence suggesting that the
KCNJ11
E23K genotype is independently associated with higher blood-pressure levels.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>17823772</pmid><doi>10.1007/s10038-007-0190-x</doi><tpages>13</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
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| ispartof | Journal of human genetics, 2007-10, Vol.52 (10), p.781-793 |
| issn | 1434-5161 1435-232X |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SpringerLink Journals - AutoHoldings |
| subjects | ABCC8 gene Aged Asian Continental Ancestry Group - genetics ATP-Binding Cassette Transporters - genetics Biomedicine Blood pressure Blood Pressure - genetics Diabetes Diabetes mellitus (non-insulin dependent) Diabetes Mellitus, Type 2 - genetics Female Gene Expression Gene Function Gene Therapy Genetic diversity Genotypes Haplotypes Human Genetics Humans Japan Linkage disequilibrium Male Middle Aged Molecular Medicine Original Article Polymorphism, Single Nucleotide Population genetics Population studies Potassium Channels - genetics Potassium Channels, Inwardly Rectifying - genetics Receptors, Drug - genetics Single-nucleotide polymorphism Sulfonylurea Receptors |
| title | SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population |
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