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

被引：33

作者：

Coto, Eliecer ^{[1
,5
]}

Calvo, David ^{[2
]}

Reguero, Julian R. ^{[2
]}

Moris, Cesar ^{[2
,5
]}

Rubin, Jose M. ^{[2
]}

Diaz-Corte, Carmen ^{[3
]}

Gil-Pena, Helena ^{[4
]}

Alosno, Belen ^{[1
]}

Iglesias, Sara ^{[1
]}

Gomez, Juan ^{[1
]}

机构：

[1] Hosp Univ Cent Asturias, Genet Mol, Oviedo, Spain

[2] Hosp Univ Cent Asturias, Cardiol Fdn ASTURCOR, Oviedo, Spain

[3] Hosp Univ Cent Asturias, Nefrol, Oviedo, Spain

[4] Hosp Univ Cent Asturias, Pediat, Oviedo, Spain

[5] Univ Oviedo, Dept Med, Oviedo, Spain

来源：

EPIGENOMICS | 2017年 / 9卷 / 08期

关键词：

epigenetics; genetic association; KCNQ1; KCNQ1OT1; long-QT syndrome; QTc interval; BECKWITH-WIEDEMANN-SYNDROME; INTERVAL DURATION; NONCODING RNA; DISEASE SEVERITY; VARIANTS; RISK; GENE; REGION; TYPE-2; IDENTIFICATION;

D O I：

10.2217/epi-2017-0024

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1049 / 1057

页数：9

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