PVT1, variants, traits, and what the research shows

PVT1 - what this gene does

PVT1 is a human gene whose variants have been linked in research to cancer-related traits, kidney conditions, and liver-related traits, among other areas. The pattern across 145 catalogued variants suggests broad involvement in disease-relevant biology, spanning at least six distinct trait categories.

Key takeaways

• Several variants in this gene are independently linked to cancer-related traits - one of the strongest recurring signals in the database
• Separate variants point to kidney and liver associations, suggesting broad biological relevance
• Additional signals span coagulation, immune function, and mental health
• All findings are population-level statistical associations from genome-wide studies, not individual predictors
• This gene has 145 catalogued variants, with the highest-magnitude signals reaching the 4.50 tier

Notable variants

The four highest-magnitude variants (4.50) define the gene's headline signals: rs148092436 is linked to a liver-related trait, rs17382698 to cancer, rs2648875 to a kidney-related trait, and rs58084056 carries a magnitude-4.50 signal with trait detail not yet available. Cancer associations recur strongly at the next tier: rs2019960, rs2608029, rs2608053, rs13255292, rs13279159, and rs58467928 all sit at magnitude 2.80 with cancer-linked annotations, alongside rs10808565 at magnitude 2.20. A second kidney signal, rs73710129, appears independently at magnitude 2.80, and a mental health association is carried by rs34167917.

Trait associations

Cancer is by far the most represented trait theme, appearing across eight variants spanning two magnitude tiers - rs17382698 at the 4.50 level, then rs13255292, rs13279159, rs2019960, rs2608029, rs2608053, and rs58467928 at 2.80, and rs10808565 at 2.20. Multiple independent variants pointing to the same trait category strengthens the overall signal. Kidney-related traits appear at both magnitude 4.50 (rs2648875) and 2.80 (rs73710129), suggesting possible replication of that association. Liver-related traits are linked to rs148092436. Beyond these three dominant themes, this gene also registers associations with coagulation - the body's blood-clotting system - through rs10087240 and rs10622381; immune function through rs10956390; and mental health through rs34167917.

Evidence quality

The four magnitude-4.50 variants - rs148092436, rs17382698, rs2648875, and rs58084056 - represent the strongest signals in this dataset, though individual sample sizes and replication cohort details are not available in the current summaries. The cancer theme is the best-replicated finding, with eight independent variants flagged across the catalog - a degree of internal consistency that goes beyond a single-cohort hit. Coagulation associations in rs10087240 and rs10622381 are among the variants with published editorial pages, indicating a higher level of curation. The full 145-variant catalog includes many entries without detailed summaries, so the breadth of traits visible here may understate the total picture. Most signals are GWAS - genome-wide association study - findings, meaning they identify statistical correlations in population data rather than experimentally verified causal mechanisms. The wide spread across trait categories may reflect genuine broad biology, but could also partly arise from linkage disequilibrium - the tendency for nearby DNA variants to be inherited together, causing one gene to appear responsible for effects driven by a neighboring gene.

What this is NOT

These variants are population-level statistical associations drawn from genome-wide research and are not deterministic predictors of any individual's health or disease risk. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.