Eliecer Coto1,2, David Calvo3, Julián R Reguero3, César Morís3,2, Jose M Rubín3, Carmen Díaz-Corte4, Helena Gil-Peña5, Belén Alosno1, Sara Iglesias1, Juan Gómez1. 1. Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain. 2. Departamento Medicina, Universidad de Oviedo, Oviedo, Spain. 3. Cardiología-Fundación ASTURCOR, Hospital Universitario Central Asturias, Oviedo, Spain. 4. Nefrología, Hospital Universitario Central Asturias, Oviedo, Spain. 5. Pediatría, Hospital Universitario Central Asturias, Oviedo, Spain.
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.
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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