rs2074518

This is a regulatory region variant variant in the LIG3 gene.

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GWAS Catalog Trait Associations (3)

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 0.04
p 7.0e-48
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

QT interval

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 0.79
p 2.0e-21
N 95,626
Large GWAS
multi-ancestry
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 1.33
p 3.0e-13
N 26,794
Meta-analysisLarge GWAS
multi-ancestry
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 1.05
p 6.0e-12
N 13,685
Large GWAS
European

TPE interval measurement

Ramírez J et al. “Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.” American Journal of Human Genetics 106(6):764-778 (2020)
Allele C
OR 0.04
p 2.0e-8
N 71,338
Large GWAS
European

About LIG3

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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