{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T17:41:54Z","timestamp":1776793314627,"version":"3.51.2"},"reference-count":26,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T00:00:00Z","timestamp":1574294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T00:00:00Z","timestamp":1574294400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Objective:<\/i><\/b> Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. About half of sudden deaths from AMI are mainly because of malignant ventricular arrhythmias (VA) after AMI. The sodium channel gene <i>SCN5A<\/i> and potassium channel genes <i>KCNQ1<\/i> and <i>KCNH2<\/i> have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS). A few studies reported the association of <i>SCN5A<\/i> variant with ventricular tachycardia (VT)\/ventricular fibrillation (VF) complicating AMI. However, little is known about the role of <i>KCNQ1<\/i> and <i>KCNH2<\/i> in AMI with VA (AMI_VA). This study focuses on investigating the potential variants on <i>SCN5A<\/i>, <i>KCNQ1<\/i>, and <i>KCNH2<\/i> contributing to AMI with VA in a Chinese population. <b><i>Materials and Methods:<\/i><\/b> In total, 139 patients with AMI_VA, and 337 patients with AMI only, were included. Thirty exonic sites were selected to be screened. Sanger sequencing was used to detect variants. A subsequent association study was also performed between AMI_VA and AMI. <b><i>Results:<\/i><\/b> Twelve variants [5 on <i>KCNH2<\/i>(<i>NM_000238.3<\/i>), 3 on <i>KCNQ1<\/i>(<i>NM_000218.2<\/i>), and 4 on <i>SCN5A<\/i>(<i>NM_198056.2<\/i>)] were identified in AMI_VA patients. Only 5 (<i>KCNH2<\/i>: c.2690A&#x3e;C; <i>KCNQ1<\/i>: c.1927G&#x3e;A, c.1343delC; <i>SCN5A<\/i>: c.1673A&#x3e;G, c.3578G&#x3e;A) of them are missense variants. Two (<i>KCNQ1<\/i>: c.1343delC and <i>SCN5A<\/i>: c.3578G&#x3e;A) of the missense variants were predicted to be clinically pathogenic. All these variants were further genotyped in an AMI without VA group. The association study identified a statistically significant difference in genotype frequency of <i>KCNH2<\/i>: c.1539C&#x3e;T and <i>KCNH2<\/i>: c.1467C&#x3e;T between the AMI and AMI_VA groups. Moreover, 2 rare variants (<i>KCNQ1<\/i>: c.1944C&#x3e;T and <i>SCN5A<\/i>: c.3621C&#x3e;T) showed an elevated allelic frequency (more than 1.5-fold) in the AMI_VA group when compared to the AMI group. <b><i>Conclusion:<\/i><\/b> Twelve variants (predicting from benign\/VUS to pathogenic) were identified on <i>KCNH2<\/i>, <i>KCNQ1<\/i>, and <i>SCN5A<\/i> in patients with AMI_VA. Genotype frequency comparison between AMI_VA and AMI identified 2 significant common variants on <i>KCNH2<\/i>. Meanwhile, the allelic frequency of 2 rare variants on <i>KCNQ1<\/i> and <i>SCN5A<\/i>, respectively, were identified to be enriched in AMI_VA, although there was no statistical significance. The present study suggests that the ion-channel genes <i>KCNH2<\/i>, <i>KCNQ1<\/i>, and <i>SCN5A<\/i> may contribute to the pathogenesis of VA during AMI.<\/jats:p>","DOI":"10.1159\/000502833","type":"journal-article","created":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T22:00:32Z","timestamp":1574373632000},"page":"38-45","source":"Crossref","is-referenced-by-count":9,"title":["Genetic Variants on <b><i>SCN5A<\/i><\/b>, <b><i>KCNQ1<\/i><\/b>, and <b><i>KCNH2<\/i><\/b> in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population"],"prefix":"10.1159","volume":"145","author":[{"given":"Feng","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongtao","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumei","family":"Xue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianzhang","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianhong","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanhong","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianhuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yubi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangzhou","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weidong","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shulin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,11,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1606915"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra000650"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2014-305875"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00014.2006"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2016.143"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2010.04.004"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.85.12.1206"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90359-3"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2007.03.040"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.legalmed.2009.02.044"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2014.2401"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/tpj.2013.50"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2010.01833.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/237431"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00031.2005"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00036.2011"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9085"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21106"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1536\/ihj.14-428"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2013.06.003"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-5922.2010.00210.x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-31"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.15420\/aer.2017.24.1"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.114.000586"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.forsciint.2013.04.020"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.84.3.290"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502833","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502833","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:55:14Z","timestamp":1745423714000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000502833"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,21]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,8]]},"publ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