Correlation analysis between the delayed rectifier potassium channel KCNE1 (G38S) polymorphism and atrial fibrillation among the senior Uygur population in Xinjiang

Wugeti, Najina; Yujun, Guo; Shi, Juan; Mahemuti, Ailiman

doi:10.4238/2015.december.7.1

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“…Among the 14 studies, 8 of them [17,19,20,24–26,28,29] reported association between KCNE1 G38S polymorphism and risk of AF, whereas the other 6 studies [18,21–23,27,30] reported no significant association. So we conducted the present meta-analysis to evaluate the association between KCNE1 G38S polymorphism and AF.…”

Section: Introductionmentioning

confidence: 99%

Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation

Jiang

Chen²,

Zhang³

et al. 2017

Medicine

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Section: Introductionmentioning

confidence: 99%

Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation

Jiang

Chen²,

Zhang³

et al. 2017

Medicine

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Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome

et al. 2018

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KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel‐complex. Both KCNE1 and KCNQ1 are necessary for normal hearing and cardiac ventricular repolarization. Recessive variants in these genes are associated with Jervell and Lange‐Nielson syndrome (JLNS1 and JLNS2), a cardio‐auditory syndrome characterized by congenital profound sensorineural deafness and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death. Some normal‐hearing carriers of heterozygous missense variants of KCNE1 and KCNQ1 have prolonged QT intervals, a dominantly inherited phenotype designated Romano‐Ward syndrome (RWS), which is also associated with arrhythmias and elevated risk of sudden death. Coassembly of certain mutant KCNE1 monomers with wild‐type KCNQ1 subunits results in RWS by a dominant negative mechanism. This paper reviews variants of KCNE1 and their associated phenotypes, including biallelic truncating null variants of KCNE1 that have not been previously reported. We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*). Some individuals carrying missense variants of KCNE1 have RWS. However, heterozygotes for loss‐of‐function variants of KCNE1 may have normal QT intervals while biallelic null alleles are associated with JLNS2, indicating a complex genotype‐phenotype spectrum for KCNE1 variants.

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Correlation analysis between the delayed rectifier potassium channel KCNE1 (G38S) polymorphism and atrial fibrillation among the senior Uygur population in Xinjiang

Cited by 2 publications

References 9 publications

Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation

Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome

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