Differential Methylation of lncRNA KCNQ1OT1 Promoter Polymorphism was Associated with Symptomatic Cardiac Long QT

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::

• epigenetics
• genetic association
• KCNQ1
• KCNQ1OT1
• long-QT syndrome
• QTc interval

Supplementary data

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Financial & competing interests disclosure

This work was supported in part by the Spanish ISCIII-Red de Investigación Renal-REDINREN (RETIC RD16/0009/0005 and RD16/0009/0021) and the European FEDER funds. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

This work was supported in part by the Spanish ISCIII-Red de Investigación Renal-REDINREN (RETIC RD16/0009/0005 and RD16/0009/0021) and the European FEDER funds. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.