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

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

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

Eliecer Coto et al. Epigenomics. 2017 Aug.

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.

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