A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval
Prolongation of the electrocardiographic QT interval, a measure of cardiac repolarization, predisposes one to ventricular arrhythmias and sudden cardiac death. Since NOS1AP, a regulator of neuronal nitric oxide synthase, was discovered in a genome-wide association study (GWAS) as a novel target that...
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| Veröffentlicht in: | American journal of human genetics 2012-07, Vol.91 (1), p.180-184 |
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| creator | Kim, Jong Wook Hong, Kyung-Won Go, Min Jin Kim, Sung Soo Tabara, Yasuharu Kita, Yoshikuni Tanigawa, Takeshi Cho, Yoon Shin Han, Bok-Ghee Oh, Bermseok |
| description | Prolongation of the electrocardiographic QT interval, a measure of cardiac repolarization, predisposes one to ventricular arrhythmias and sudden cardiac death. Since NOS1AP, a regulator of neuronal nitric oxide synthase, was discovered in a genome-wide association study (GWAS) as a novel target that modulates cardiac repolarization, several loci have been linked to the QT interval in studies (QTGEN and QTSCD) of European descendents. However, there has been no GWAS of the QT interval in Asian populations. We conducted a GWAS with regard to the QT interval in Korea Association Resource (KARE [n = 6,805]) cohorts. Replication studies in independent populations of Korean (n = 4,686) and Japanese (n = 2,687) groups validated the association between a SNP, rs13017846, which maps to near SLC8A1 (sodium/calcium exchanger 1 precursor, overall p = 8.0 × 10−14), and the QT interval. The minor allele frequency (MAF) of rs13017846 varies widely between ethnicities—0.053 in Europeans (HapMap CEU [Utah residents with ancestry from northern and western Europe from the Centre d′Étude du Polymorphisme Humain collection] samples) versus 0.080 in Africans (HapMap YRI [Yoruba in Ibadan, Nigeria] samples)—whereas a MAF of 0.500 has been reported in Asians (HapMap HCB [Han Chinese in Beijing, China] and JPT [Japanese in Tokyo, Japan] samples). This might explain why this locus has not been identified in Europeans in previous studies. |
| doi_str_mv | 10.1016/j.ajhg.2012.05.019 |
| format | Article |
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Since NOS1AP, a regulator of neuronal nitric oxide synthase, was discovered in a genome-wide association study (GWAS) as a novel target that modulates cardiac repolarization, several loci have been linked to the QT interval in studies (QTGEN and QTSCD) of European descendents. However, there has been no GWAS of the QT interval in Asian populations. We conducted a GWAS with regard to the QT interval in Korea Association Resource (KARE [n = 6,805]) cohorts. Replication studies in independent populations of Korean (n = 4,686) and Japanese (n = 2,687) groups validated the association between a SNP, rs13017846, which maps to near SLC8A1 (sodium/calcium exchanger 1 precursor, overall p = 8.0 × 10−14), and the QT interval. The minor allele frequency (MAF) of rs13017846 varies widely between ethnicities—0.053 in Europeans (HapMap CEU [Utah residents with ancestry from northern and western Europe from the Centre d′Étude du Polymorphisme Humain collection] samples) versus 0.080 in Africans (HapMap YRI [Yoruba in Ibadan, Nigeria] samples)—whereas a MAF of 0.500 has been reported in Asians (HapMap HCB [Han Chinese in Beijing, China] and JPT [Japanese in Tokyo, Japan] samples). This might explain why this locus has not been identified in Europeans in previous studies.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2012.05.019</identifier><identifier>PMID: 22726844</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Adult ; Aged ; Biological and medical sciences ; Cardiovascular disease ; Electrocardiography ; Ethnicity ; Female ; Fundamental and applied biological sciences. Psychology ; Gene loci ; Genealogy ; Genetics of eukaryotes. Biological and molecular evolution ; Genome-Wide Association Study ; Genomics ; Humans ; Long QT Syndrome - genetics ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Polymorphism, Single Nucleotide ; Sodium-Calcium Exchanger - genetics ; Validation Studies as Topic</subject><ispartof>American journal of human genetics, 2012-07, Vol.91 (1), p.180-184</ispartof><rights>2012 The American Society of Human Genetics</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</rights><rights>Copyright Cell Press Jul 13, 2012</rights><rights>2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c480t-6ad133ad115c780c7d0f424b2d7067dea910efca49c0f7aaa3bf27a585c46a123</citedby><cites>FETCH-LOGICAL-c480t-6ad133ad115c780c7d0f424b2d7067dea910efca49c0f7aaa3bf27a585c46a123</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/PMC3397256/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929712002753$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26122561$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22726844$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Jong Wook</creatorcontrib><creatorcontrib>Hong, Kyung-Won</creatorcontrib><creatorcontrib>Go, Min Jin</creatorcontrib><creatorcontrib>Kim, Sung Soo</creatorcontrib><creatorcontrib>Tabara, Yasuharu</creatorcontrib><creatorcontrib>Kita, Yoshikuni</creatorcontrib><creatorcontrib>Tanigawa, Takeshi</creatorcontrib><creatorcontrib>Cho, Yoon Shin</creatorcontrib><creatorcontrib>Han, Bok-Ghee</creatorcontrib><creatorcontrib>Oh, Bermseok</creatorcontrib><title>A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Prolongation of the electrocardiographic QT interval, a measure of cardiac repolarization, predisposes one to ventricular arrhythmias and sudden cardiac death. 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Biological and molecular evolution</subject><subject>Genome-Wide Association Study</subject><subject>Genomics</subject><subject>Humans</subject><subject>Long QT Syndrome - genetics</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Sodium-Calcium Exchanger - genetics</subject><subject>Validation Studies as Topic</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kdGKEzEUhoMobl19AS8kIHs540lmJpkBEUpd3UJBxNXbcJrJdDJMJzVJK769qa277s3eJIR8_8lPPkJeM8gZMPFuyHHoNzkHxnOocmDNEzJjVSEzIaB6SmYAwLOGN_KCvAhhAGCshuI5ueBcclGX5Yys53Thtls30R_oLU6R2ol-Wy3qOaPLQOchOG0xmpb-srGnsTf0495jtCnhur_n69Ho6J1G31q38bjrraZfb-lyisYfcHxJnnU4BvPqvF-S75-ubxc32erL5-Vivsp0WUPMBLasKNLCKi1r0LKFruTlmrcShGwNNgxMp7FsNHQSEYt1xyVWdaVLgYwXl-TDae5uv96aVpspehzVztst-t_KoVUPbybbq407qKJoJK9EGvD2PMC7n3sTohrc3k-ps2LARcOlEHWi-InS3oXgTXf3AgN19KIGdfSijl4UVCp5SaE3_3e7i_wTkYCrM4BB49h5nLQN95xgPFVkiXt_4kz6yYM1XgVtzaRNa33SoFpnH-vxB7NCq74</recordid><startdate>20120713</startdate><enddate>20120713</enddate><creator>Kim, Jong Wook</creator><creator>Hong, Kyung-Won</creator><creator>Go, Min Jin</creator><creator>Kim, Sung Soo</creator><creator>Tabara, Yasuharu</creator><creator>Kita, Yoshikuni</creator><creator>Tanigawa, Takeshi</creator><creator>Cho, Yoon Shin</creator><creator>Han, Bok-Ghee</creator><creator>Oh, Bermseok</creator><general>Elsevier Inc</general><general>Cell Press</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><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>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20120713</creationdate><title>A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval</title><author>Kim, Jong Wook ; Hong, Kyung-Won ; Go, Min Jin ; Kim, Sung Soo ; Tabara, Yasuharu ; Kita, Yoshikuni ; Tanigawa, Takeshi ; Cho, Yoon Shin ; Han, Bok-Ghee ; Oh, Bermseok</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c480t-6ad133ad115c780c7d0f424b2d7067dea910efca49c0f7aaa3bf27a585c46a123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Cardiovascular disease</topic><topic>Electrocardiography</topic><topic>Ethnicity</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. 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Since NOS1AP, a regulator of neuronal nitric oxide synthase, was discovered in a genome-wide association study (GWAS) as a novel target that modulates cardiac repolarization, several loci have been linked to the QT interval in studies (QTGEN and QTSCD) of European descendents. However, there has been no GWAS of the QT interval in Asian populations. We conducted a GWAS with regard to the QT interval in Korea Association Resource (KARE [n = 6,805]) cohorts. Replication studies in independent populations of Korean (n = 4,686) and Japanese (n = 2,687) groups validated the association between a SNP, rs13017846, which maps to near SLC8A1 (sodium/calcium exchanger 1 precursor, overall p = 8.0 × 10−14), and the QT interval. The minor allele frequency (MAF) of rs13017846 varies widely between ethnicities—0.053 in Europeans (HapMap CEU [Utah residents with ancestry from northern and western Europe from the Centre d′Étude du Polymorphisme Humain collection] samples) versus 0.080 in Africans (HapMap YRI [Yoruba in Ibadan, Nigeria] samples)—whereas a MAF of 0.500 has been reported in Asians (HapMap HCB [Han Chinese in Beijing, China] and JPT [Japanese in Tokyo, Japan] samples). This might explain why this locus has not been identified in Europeans in previous studies.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>22726844</pmid><doi>10.1016/j.ajhg.2012.05.019</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Biological and medical sciences Cardiovascular disease Electrocardiography Ethnicity Female Fundamental and applied biological sciences. Psychology Gene loci Genealogy Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Genomics Humans Long QT Syndrome - genetics Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Polymorphism, Single Nucleotide Sodium-Calcium Exchanger - genetics Validation Studies as Topic |
| title | A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval |
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