Expressive

rs10234834 (DPY19L2P3): Multi-tissue Expression QTL

Key takeaways

  • rs10234834 reduces DPY19L2P3 gene activity in skeletal muscle, heart, testis, and brain
  • The same variant increases a nearby gene's activity in immune cells while reducing it in the pancreas and artery
  • This variant was studied in a metabolic genome-wide association study of 490 elite athletes
  • Tissue expression findings come from GTEx v11 data on 953 donors with strong statistical support
  • No specific metabolite or phenotypic outcome associations are confirmed for this variant in available sources

Key takeaways

  • rs10234834 reduces DPY19L2P3 gene activity in skeletal muscle, heart, testis, and brain
  • The same variant increases a nearby gene's activity in immune cells while reducing it in the pancreas and artery
  • This variant was studied in a metabolic genome-wide association study of 490 elite athletes
  • Tissue expression findings come from GTEx v11 data on 953 donors with strong statistical support
  • No specific metabolite or phenotypic outcome associations are confirmed for this variant in available sources

What the research says GTEx v11 data (953 donors, FDR < 0.05) identifies rs10234834 as an expression-quantitative trait locus (eQTL, a variant that influences how actively a nearby gene is expressed in different tissues) for DPY19L2P3, with the alternate allele reducing expression in skeletal muscle (slope -0.28, p = 1.3e-15), testis (-0.34, p = 1.2e-12), heart atrial appendage (-0.38, p = 7.1e-13), and brain nucleus accumbens/basal ganglia (-0.41, p = 2.9e-8) GTEx Portal. The same allele shows divergent effects on a nearby gene (Ensembl ID ENSG00000288973): increased expression in EBV-transformed lymphocytes (immune-derived cell lines, slope +0.50, p = 1.4e-11) but reduced expression in pancreas (-0.36, p = 6.8e-13), heart atrial appendage (-0.35, p = 9.9e-13), and tibial artery (-0.29, p = 1.5e-13) GTEx Portal. This variant was also examined in a metabolic GWAS conducted in 490 elite athletes with profiling of 751 serum metabolites; a specific metabolite association for this locus is not stated in the provided study text.

Reported associations

  • DPY19L2P3 expression in skeletal muscle: Alternate allele reduces expression (slope -0.28, p = 1.3e-15) GTEx Portal
  • DPY19L2P3 expression in heart atrial appendage: Alternate allele reduces expression (slope -0.38, p = 7.1e-13) GTEx Portal
  • DPY19L2P3 expression in testis: Alternate allele reduces expression (slope -0.34, p = 1.2e-12) GTEx Portal
  • DPY19L2P3 expression in brain nucleus accumbens/basal ganglia: Alternate allele reduces expression (slope -0.41, p = 2.9e-8) GTEx Portal
  • ENSG00000288973 expression in EBV-transformed lymphocytes: Alternate allele increases expression (slope +0.50, p = 1.4e-11) GTEx Portal
  • ENSG00000288973 expression in pancreas: Alternate allele reduces expression (slope -0.36, p = 6.8e-13) GTEx Portal
  • ENSG00000288973 expression in heart atrial appendage: Alternate allele reduces expression (slope -0.35, p = 9.9e-13) GTEx Portal
  • ENSG00000288973 expression in tibial artery: Alternate allele reduces expression (slope -0.29, p = 1.5e-13) GTEx Portal
  • Elite athlete metabolomics context: This locus was examined in a metabolic GWAS of 490 elite athletes profiling 751 serum metabolites; no specific association for this variant is described in the available study materials

Evidence quality The primary evidence base consists of GTEx v11 eQTL data (953 donors, FDR < 0.05), which provides strong statistical support (p-values ranging from 1.5e-13 to 2.9e-8) for expression effects across eight tissue-gene combinations GTEx Portal. An independent metabolic GWAS in 490 elite athletes (751 serum metabolites profiled) provides research context but does not contribute a specific phenotypic or metabolite association for this locus in the provided study text. No GWAS-level phenotypic outcomes, clinical annotations, drug-response data, or independent replication studies are available in the provided materials. Evidence for disease or functional health outcomes should be considered absent based on the current sources, and any conclusions beyond the tissue expression observations are unsupported.

Tissue-specific expression effects

  • DPY19L2P3: Reduced expression in skeletal muscle, heart atrial appendage, testis, and the brain nucleus accumbens/basal ganglia; all four associations reach genome-wide significance in GTEx v11 GTEx Portal
  • ENSG00000288973: Increased expression in EBV-transformed lymphocytes; reduced expression in pancreas, heart atrial appendage, and tibial artery; the direction of effect differs by tissue type, indicating context-dependent regulation GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10234834?

rs10234834 is a single-nucleotide polymorphism (a one-letter change in the DNA sequence) located near the DPY19L2P3 gene. It acts as an expression quantitative trait locus (eQTL), meaning it influences how actively nearby genes are expressed in certain tissues.

What tissues does rs10234834 affect?

Based on GTEx v11 data from 953 donors, the alternate allele reduces DPY19L2P3 expression in skeletal muscle, heart, testis, and the brain nucleus accumbens region. It also affects a nearby gene, increasing its activity in lymphocytes while reducing it in the pancreas, heart, and artery.

Was rs10234834 found in studies of athletes?

This variant was included in a metabolic genome-wide association study of 490 elite athletes that profiled 751 serum metabolites. The study investigated genetic links to athletic performance and endurance; however, no specific metabolite association for rs10234834 is stated in the available study text.

What is the DPY19L2P3 gene?

DPY19L2P3 is the gene whose expression is reduced by the alternate allele at rs10234834. GTEx data shows this reduction occurs in skeletal muscle, heart, testis, and brain, though the functional consequences of this change are not described in the available study materials.

What is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed - that is, how actively it produces its protein - in specific tissues or cell types. eQTL findings describe a molecular mechanism and do not directly indicate a health outcome.