Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT

Epigenomics. 2017 Aug;9(8):1049-1057. doi: 10.2217/epi-2017-0024. Epub 2017 Jul 27.

Abstract

Aim: To investigate whether the differential methylation of KCNQ1OT1 was associated with the risk of symptomatic long QTc.

Patients & methods: We investigated the methylation status of KCNQ1OT1 in a cohort of patients (n = 131) with a symptomatic prolonged QTc. All the patients were genotyped for a common promoter polymorphism (rs11023840). They were also genotyped for DNA digested with the methylation-sensitive HpaII restriction enzyme.

Results: We found a significant higher frequency of AA genotype (p = 0.02) in the patients compared with healthy controls (n = 240). In the HpaII-digested samples there was a higher frequency of the A-allele among the patients compared with the controls (p = 0.02).

Conclusion: Our findings supported a role for the differential methylation/imprinting of KCNQ1OT1 in the risk for symptomatic prolonged QTc.

Keywords: KCNQ1; KCNQ1OT1; QTc interval; epigenetics; genetic association; long-QT syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Case-Control Studies
  • DNA Methylation*
  • Genomic Imprinting
  • Humans
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / pathology
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Potassium Channels, Voltage-Gated / genetics
  • Promoter Regions, Genetic

Substances

  • KCNQ1OT1 long non-coding RNA, human
  • Potassium Channels, Voltage-Gated