Expressive

rs111573338 (SH2D6): Multi-tissue Gene Expression eQTL

Key takeaways

  • rs111573338 near SH2D6 is an eQTL variant that influences nearby gene activity across multiple tissues
  • In esophagus mucosa, this variant is associated with increased expression of PARTICL
  • In whole blood, this variant is associated with increased expression of ENSG00000296248
  • In sun-exposed lower leg skin, this variant is associated with reduced expression of CAPG
  • No direct trait or disease associations for this variant appear in the provided studies; evidence is limited to expression effects

Key takeaways

  • rs111573338 near SH2D6 is an eQTL variant that influences nearby gene activity across multiple tissues
  • In esophagus mucosa, this variant is associated with increased expression of PARTICL
  • In whole blood, this variant is associated with increased expression of ENSG00000296248
  • In sun-exposed lower leg skin, this variant is associated with reduced expression of CAPG
  • No direct trait or disease associations for this variant appear in the provided studies; evidence is limited to expression effects

What the research says GTEx v11 data from 953 donors identifies rs111573338 as a cis-eQTL (a variant that is statistically linked to differences in how much nearby genes are expressed) at the SH2D6 locus, with associations meeting FDR<0.05 in three tissues: PARTICL in esophagus mucosa (increased expression, slope +0.31, p=1.2e-4), ENSG00000296248 in whole blood (increased expression, slope +0.32, p=1.8e-4), and CAPG in sun-exposed lower leg skin (reduced expression, slope -0.20, p=2.3e-4) GTEx Portal. A scalable GWAS methodology study by Loya et al. (Nature Genetics, 2025) applied the Quickdraws algorithm to approximately 405,000 UK Biobank samples across 79 quantitative and 50 binary traits, though the provided text does not enumerate specific associations for this variant.

Reported associations

  • Gene expression, PARTICL (esophagus mucosa): Increased PARTICL expression in esophagus mucosa tissue; effect slope +0.31 at p=1.2e-4 GTEx Portal
  • Gene expression, ENSG00000296248 (whole blood): Increased expression of ENSG00000296248 in whole blood; effect slope +0.32 at p=1.8e-4 GTEx Portal
  • Gene expression, CAPG (skin): Reduced CAPG expression in sun-exposed lower leg skin; effect slope -0.20 at p=2.3e-4 GTEx Portal

Evidence quality All available associations for rs111573338 come from GTEx v11 eQTL analysis (953 donors, cis-window, FDR<0.05). These are expression-level findings only, with p-values ranging from 1.2e-4 to 2.3e-4; they meet the GTEx FDR threshold but are modest relative to the standards of large genome-wide association studies. No direct trait or clinical outcome data are available from the provided studies, and no independent replication data are present. The Loya et al. (2025) Quickdraws paper provides methodological context for large-scale GWAS analysis but does not enumerate associations for this specific variant. Evidence for rs111573338 should be considered preliminary and expression-level only.

Tissue-specific expression effects

  • PARTICL: Increased expression in esophagus mucosa; the alternate allele is linked to higher PARTICL activity (slope +0.31) GTEx Portal
  • ENSG00000296248: Increased expression in whole blood; the alternate allele is linked to higher activity of this gene (slope +0.32) GTEx Portal
  • CAPG: Reduced expression in sun-exposed lower leg skin; the alternate allele is linked to lower CAPG activity (slope -0.20) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs111573338 do?

rs111573338 is a genetic variant near the SH2D6 gene that acts as an eQTL, meaning it is statistically linked to differences in how much nearby genes are expressed in specific tissues. GTEx v11 analysis identifies effects in esophagus mucosa, whole blood, and sun-exposed skin.

What is SH2D6?

SH2D6 is the gene located nearest to rs111573338. The provided studies do not describe the specific biological function of SH2D6 in relation to this variant; the available evidence covers only expression effects of nearby genes across specific tissues.

Which tissues are affected by rs111573338?

GTEx v11 data show rs111573338 is associated with expression changes in three tissues: esophagus mucosa (PARTICL gene, increased expression), whole blood (ENSG00000296248, increased expression), and sun-exposed lower leg skin (CAPG gene, reduced expression).

Is rs111573338 linked to any diseases?

The provided studies do not report direct disease or trait associations for rs111573338. Available evidence is limited to gene expression effects from GTEx v11 analysis and should be considered preliminary.

What is an eQTL?

An eQTL, or expression quantitative trait locus, is a genetic variant statistically associated with differences in how much a nearby gene is expressed in a given tissue. rs111573338 functions as an eQTL, with its expression effects varying depending on which tissue is examined.