DOI: 10.1161/circ.148.suppl_1.13543 ISSN: 0009-7322

Abstract 13543: Novel Genes That Regulate QT Interval in Taiwanese Cohort

Jien-jiun Chen, Chia-Ti Tsai
  • Physiology (medical)
  • Cardiology and Cardiovascular Medicine

Introduction: QT interval denoted repolarization of the ventricule. QT intervals prolongation or shortening would lead patients prone to sudden cardiac death, i.e. Long QT or Short QT syndrome. There are many genes that have been reported to be related to QT interval changes. In this study, we used Genome wide association study(GWAS) to search for genes that regulate QT interval in a large Taiwanese cohort.

Methods: We collected 13020 samples and did GWAS study. We collect ECG and analyze QTc interval by standard method. We search for genes and SNP have correlation with QT interval and used Taiwan Biobank as control. The QTc was measured as continuous variables. A P<10 -8 was considered significant variants.

Results: In this study, we found many variants that regulate QT interval. (Figure 1). The variants included rs36092684 encoding C1orf132 which was long none coding RNA (never reported before), rs846111 that influences QT interval, 1:162021296:A:ATTG (a novel variants non reported yet), rs12143965, encoding NME7 ( ATP1B1 was a strong functional candidate, although NME7 could not be excluded without functional validation), rs10490255 encoding SLC8A1 Na + -Ca ++ exchanger that wound prolonged QT, rs16862199, encoded SLC19A2 genes that was associated with Thiamine-responsive megaloblastic anemia (TRMA), in such patients, their QT prolonged, rs2277923, encoding NKS2-5 that would cause dilated cardiomyopathy, conduction disorder, long QT, tetralogy of Fallot, rs144500919 (a novel SNP), rs12665409 encoding SLC35F1 that affects QT interval, and rs3778873(KCNH2), rs2074239 (KCNQ1).

Conclusion: In this large Taiwanese QT study, we identified variants that would regulate QT interval. Some were reported before, such in QTGEN or QTSCD studies, and others were novel. The novel variants warrant further functional studies.

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