Expressive

rs10409197 (PRR12): Multi-tissue eQTL variant

Key takeaways

  • The ALT allele of rs10409197 increases PRR12 gene expression in all eight tissues where it has been studied.
  • The thyroid shows the strongest effect, with a p-value of 8.0e-68 in GTEx v11 data from 953 donors.
  • Affected tissues include thyroid, pituitary, liver, pancreas, esophagus, colon, and two skin subtypes.
  • All eight tissue effects point in the same direction, which is unusual and supports confidence in the signal.
  • These are gene expression associations, not disease risk associations, so no clinical conclusions can be drawn.

Key takeaways

  • The ALT allele of rs10409197 consistently raises PRR12 (Proline Rich 12) gene activity across at least eight tissue types, all pointing in the same direction.
  • The largest effect appears in thyroid tissue, followed closely by pituitary and liver.
  • Effect sizes are large by genomic standards, and p-values reach as low as 8.0e-68 in thyroid (GTEx v11, 953 donors).
  • All associations come from gene expression data, not disease endpoints, so no clinical risk can be inferred from this evidence alone.
  • No lifestyle-specific findings are on file for this variant.

What the research says rs10409197 is an eQTL (expression quantitative trait locus) for PRR12, meaning the genotype at this position predicts how much PRR12 is expressed in tissue cells. The ALT allele is linked to higher expression in all eight tissues measured in GTEx v11, with effect slopes on a log2-normalized scale (where each +1.0 unit corresponds roughly to a doubling of expression) ranging from +0.49 in sun-exposed lower-leg skin to +0.97 in thyroid tissue GTEx Portal. All associations pass a false discovery rate (FDR) threshold below 0.05 and carry exceptionally low p-values throughout.

Reported associations

  • PRR12 expression (multi-tissue): The ALT allele is associated with increased expression across eight tissues, with effect slopes from +0.49 in sun-exposed skin to +0.97 in thyroid; all effects are in the same direction GTEx Portal

Evidence quality All current evidence for rs10409197 derives from GTEx v11 eQTL data (953 donors). P-values are exceptionally robust, reaching 8.0e-68 in thyroid, and the directional consistency across all eight tissues strengthens confidence in the signal. No conflicting findings appear in the provided data. A large UK Biobank genetics study of 35 blood and urine biomarkers (n=363,228) is included as contextual background for this entry; the provided excerpt does not specifically name rs10409197, so no additional association claims are drawn from it here. Because eQTL associations describe gene regulation rather than disease outcomes, they cannot by themselves establish clinical risk.

Tissue-specific expression effects

  • PRR12: The ALT allele is associated with increased expression in thyroid (slope +0.97, p=8.0e-68), pituitary (+0.92, p=4.1e-31), liver (+0.90, p=1.4e-16), esophagus mucosa (+0.84, p=5.4e-43), pancreas (+0.83, p=3.9e-25), non-sun-exposed suprapubic skin (+0.68, p=1.7e-54), transverse colon (+0.57, p=4.9e-27), and sun-exposed lower-leg skin (+0.49, p=1.4e-39) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does the PRR12 gene do?

PRR12 (Proline Rich 12) is expressed across multiple tissue types including thyroid, liver, and pituitary. Its specific biological function is not fully characterized in the research data provided for this entry.

What is an eQTL and why does it matter?

An eQTL (expression quantitative trait locus) is a genetic variant that predicts how much a nearby gene is expressed in a given tissue. eQTL data helps researchers understand how genetic variation affects gene regulation, which can be an early step toward understanding disease mechanisms.

Is rs10409197 linked to any disease?

The available data for rs10409197 covers tissue-specific gene expression effects on PRR12. No direct disease associations are reported in the studies provided for this entry.

Which tissues does rs10409197 affect?

GTEx v11 data shows the ALT allele of rs10409197 increases PRR12 expression in thyroid, pituitary, liver, esophagus mucosa, pancreas, non-sun-exposed skin, transverse colon, and sun-exposed lower-leg skin.

What does it mean that all tissue effects point the same direction?

When a variant consistently increases gene expression in every tissue studied, it suggests the association is a genuine, robust signal rather than a chance finding in one tissue. For rs10409197, this consistency across eight tissues strengthens confidence in the eQTL result.