rs2074238

This is a regulatory region variant variant in the KCNQ1 gene.

▶

GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

JT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)

Allele T

OR 0.27

p —

N 252,730

Large GWAS

European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

QT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)

Allele T

OR 0.26

p —

N 252,730

Large GWAS

European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

Bihlmeyer NA et al. “ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.” Circulation. Genomic and Precision Medicine 11(1):e001758 (2018)

Allele T

OR 3.58

p 8.0e-130

N 95,626

Large GWAS

multi-ancestry

Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)

Allele T

OR 4.89

p 2.0e-28

N 71,061

Large GWAS

European

van Duijvenboden S et al. “Genetic Basis and Prognostic Value of Exercise QT Dynamics.” Circulation. Genomic and Precision Medicine 13(4):e002774 (2020)

Allele T

OR 0.07

p 6.0e-13

N 52,861

Large GWAS

European

van Setten J et al. “Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.” European Journal of Human Genetics : Ejhg 27(6):952-962 (2019)

Allele T

OR 5.41

p 7.0e-28

N 26,794

Meta-analysisLarge GWAS

multi-ancestry

van Duijvenboden S et al. “Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.” Human Molecular Genetics 30(24):2513-2523 (2021)

Allele T

OR 0.17

p 8.0e-63

N 24,495

Large GWAS

European

Newton-Cheh C et al. “Common variants at ten loci influence QT interval duration in the QTGEN Study.” Nature Genetics 41(4):399-406 (2009)

Allele T

OR 7.88

p 3.0e-17

N 13,685

Large GWAS

European

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)

Allele T

OR 0.16

p 2.0e-62

N 63,706

Major Consortium StudyLarge GWAS

European, NR

T wave morphology measurement

Ramírez J et al. “Cardiovascular Predictive Value and Genetic Basis of Ventricular Repolarization Dynamics.” Circulation. Arrhythmia and Electrophysiology 12(10):e007549 (2019)

Allele T

OR 0.12

p 7.0e-34

N 51,574

Large GWAS

European

About KCNQ1

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

rs2074238

GWAS Catalog Trait Associations (4)

JT interval

QT interval

electrocardiography

T wave morphology measurement

About KCNQ1

Community Wiki

Comments