rs13255292

This is a regulatory region variant variant in the PVT1 gene.

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GWAS Catalog Trait Associations (4)

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

diffuse large B-cell lymphoma

Cerhan JR et al. “Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.” Nature Genetics 46(11):1233-8 (2014)
Allele T
OR 1.22
p 1.0e-12
N 11,523
Large GWAS
European

lymphatic system cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.13
p 6.0e-12
N 629,777
Major Consortium StudyLarge GWAS
multi-ancestry

non-Hodgkins lymphoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.13
p 1.0e-11
N 630,416
Major Consortium StudyLarge GWAS
multi-ancestry

lymphoma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.15
p 5.0e-10
N 668,480
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants
AssociationN=25,537Sehee Kim et al.(2019)· International Journal of Cancer

A comprehensive gene-environment interaction study in ovarian cancer examining 28 genome-wide significant variants and 7 environmental risk factors (oral contraceptive use, parity, tubal ligation, breastfeeding, menopausal hormone therapy, BMI, endometriosis) in 9,971 cases and 15,566 controls. The strongest multiplicative interaction identified was between rs13255292 and OCP use (P = 3.48 × 10⁻⁴), with differential protective effects by genotype and duration of use, though no interactions remained significant after multiple testing correction.

Traits studied:Epithelial ovarian cancerFallopian tube cancerOvarian cancerPrimary peritoneal cancer
PubMedDOIMetascience Observatory

About PVT1

This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]

View all PVT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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