rs8049607

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

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GWAS Catalog Trait Associations (1)

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

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 1.05

p 8.0e-44

N 95,626

Large GWAS

multi-ancestry

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 0.04

p 8.0e-14

N 52,861

Large GWAS

European

Pfeufer A et al. “Common variants at ten loci modulate the QT interval duration in the QTSCD Study.” Nature Genetics 41(4):407-14 (2009)

Allele T

OR 1.25

p 6.0e-15

N 15,842

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 1.23

p 5.0e-15

N 13,685

Large GWAS

European

About LITAF

Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

rs8049607

GWAS Catalog Trait Associations (1)

QT interval

About LITAF

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