rs3027234

This is a intron variant variant in the CTC1 gene.

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GWAS Catalog Trait Associations (1)

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

chromosome, telomeric region length

Mangino M et al. “Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.” Human Molecular Genetics 21(24):5385-94 (2012)

Allele T

OR 0.06

p 2.0e-8

N 9,190

Meta-analysis

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (2)

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Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study

AssociationN=6,700Campa D. et al.(2019)· International Journal of Cancer

This case-control association study analyzed 10 telomere-length-associated SNPs in relation to pancreatic cancer risk in 2,374 cases and 4,326 controls from the PANDoRA consortium. The strongest association was with TERT-rs2736100 (OR=1.54, p=1.54×10⁻¹⁰), and a novel protective association was found with NAF1-rs7675998 (OR=0.80, p=1.87×10⁻⁶). A genetic telomere length score (teloscore) combining these variants reached genome-wide significance for PDAC risk (p=2.98×10⁻⁹ for highest vs. lowest quintile).

Traits studied:Lymphocyte telomere lengthPancreatic ductal adenocarcinoma

PubMed DOI Metascience Observatory

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Meta-analysisN=1,513,186Unknown

Mendelian randomization study of 16 genetic variants in 10 telomere-related loci using summary data from 420,081 cancer cases and 1,093,105 controls. Genetically increased telomere length was associated with higher cancer risk (glioma OR 5.27 [3.15-8.81], lung adenocarcinoma 3.19 [2.40-4.22], neuroblastoma 2.98 [1.92-4.62]) but reduced risk for cardiovascular diseases and some immune conditions.

Traits studied:Abdominal aortic aneurysmAlzheimer's diseaseBladder cancerCeliac diseaseCoronary heart diseaseEndometrial cancerGliomaInterstitial lung diseaseKidney cancerLung adenocarcinomaMelanomaNeuroblastomaSerous low-malignancy-potential ovarian cancerTelomere lengthTesticular cancer

DOI Metascience Observatory

About CTC1

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]