rs4809324

This is a regulatory region variant variant in the RTEL1 gene.

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GWAS Catalog Trait Associations (1)

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

central nervous system cancer

Wrensch M et al. “Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.” Nature Genetics 41(8):905-8 (2009)
Allele C
OR 1.60
p 2.0e-9
N 4,684
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Genetic analysis of the relation of telomere length‐related gene (RTEL1) and coronary heart disease risk
AssociationN=1,199Shijuan Lu et al.(2019)· Molecular Genetics &amp; Genomic Medicine

This case-control study examined 5 SNPs in the RTEL1 gene (regulator of telomere elongation helicase 1) in 596 coronary heart disease (CHD) patients and 603 healthy controls from a Chinese Han population. Two SNPs showed protective associations: rs6010620 (OR = 0.78, 95% CI = 0.65-0.93, p = 0.005) and rs4809324 (OR = 0.08, 95% CI = 0.04-0.16, p = 2.74E-21). Haplotype analysis revealed the 'GTT' haplotype of three RTEL1 SNPs was associated with significantly decreased CHD risk (OR = 0.03, 95% CI = 0.01-0.12, p < 0.0001).

Traits studied:CHDCoronary heart disease
PubMedDOIMetascience Observatory
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Genome-wide association study of glioma and meta-analysis
AssociationN=6,811Rajaraman P. et al.(2012)· Human Genetics

Genome-wide association study of glioma in 1,856 cases and 4,955 controls that confirmed seven previously reported susceptibility loci. Strong replication was found for rs2736100 (TERT, OR=0.72), rs4977756 (CDKN2BAS, OR=1.35), and rs6010620 (RTEL1, OR=0.66). Consistent associations were observed for loci at EGFR, CCDC26, and PHLDB1. Meta-analysis of 85 candidate loci in 5,015 cases and 11,601 controls identified no novel genome-wide significant associations, suggesting glioma genetic architecture may involve fewer common variants than other cancers.

Traits studied:GlioblastomaGliomaHigh-grade gliomaLow-grade gliomaOligodendroglioma
PubMedDOIMetascience Observatory

About RTEL1

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

View all RTEL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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