Publication | Open Access
Differential Methylation of lncRNA <i>KCNQ1OT1</i> Promoter Polymorphism was Associated with Symptomatic Cardiac Long QT
31
Citations
27
References
2017
Year
Epigenetic ChangeGeneticsGenetic EpidemiologyHuman PolymorphismPathologyEpigeneticsMethylation StatusClinical GeneticsTranscriptional RegulationDifferential MethylationLong Non-coding RnaMolecular DiagnosticsCardiologyCardiomyopathyGene ExpressionEpigenetic RegulationCardiac PathologyNatural SciencesMedical GeneticsMedicineDifferential Methylation/imprintingCardiovascular GeneticsNon-coding Rna
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.
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