Expressive

rs11575244 (STAT2): Multi-Tissue Expression Variant

Key takeaways

  • The ALT allele increases PMEL expression in subcutaneous fat, visceral fat, and skeletal muscle
  • The same allele reduces SUOX expression in the frontal cortex, spleen, tibial nerve, and testis
  • RPS26 expression in skeletal muscle is also increased with the ALT allele
  • No disease or trait associations are reported in the currently available studies for this variant

Key takeaways

  • The ALT allele increases PMEL expression in subcutaneous fat, visceral fat, and skeletal muscle
  • The same allele reduces SUOX expression in the frontal cortex, spleen, tibial nerve, and testis
  • RPS26 expression in skeletal muscle is also increased with the ALT allele
  • No disease or trait associations are reported in the currently available studies for this variant

What the research says GTEx v11 cis-eQTL data from 953 donors links rs11575244 to increased PMEL expression in subcutaneous adipose tissue (p=1.1e-14), visceral adipose tissue (p=2.4e-7), and skeletal muscle (p=1.4e-6), as well as reduced SUOX expression across brain frontal cortex, spleen, tibial nerve, and testis, and increased RPS26 expression in skeletal muscle, with all associations passing FDR < 0.05 GTEx Portal. A separate GWAS methodology study applied the Quickdraws algorithm to 13.3 million variants across 79 quantitative and 50 binary traits in 405,088 UK Biobank individuals, identifying 4.97% more quantitative and 3.25% more binary associations than the REGENIE method, but does not report rs11575244 as a specific trait-associated variant. These eQTL findings represent the entirety of available direct evidence for this variant; functional or clinical significance is not addressed in any of the provided studies.

Reported associations

  • PMEL expression, subcutaneous adipose tissue: The ALT allele is linked to increased expression (p=1.1e-14) GTEx Portal
  • PMEL expression, visceral (omental) adipose tissue: The ALT allele is linked to increased expression (p=2.4e-7) GTEx Portal
  • PMEL expression, skeletal muscle: The ALT allele is linked to increased expression (p=1.4e-6) GTEx Portal
  • SUOX expression, brain frontal cortex (Brodmann area 9): The ALT allele is linked to reduced expression (p=3.0e-6) GTEx Portal
  • SUOX expression, spleen: The ALT allele is linked to reduced expression (p=4.7e-6) GTEx Portal
  • SUOX expression, tibial nerve: The ALT allele is linked to reduced expression (p=2.2e-7) GTEx Portal
  • SUOX expression, testis: The ALT allele is linked to reduced expression (p=7.4e-8) GTEx Portal
  • RPS26 expression, skeletal muscle: The ALT allele is linked to increased expression (p=1.1e-5) GTEx Portal

Evidence quality All reported associations are eQTL (expression quantitative trait locus) effects from GTEx v11 data based on 953 donors, with all associations passing FDR < 0.05 GTEx Portal. P-values range from 1.1e-14 for PMEL in subcutaneous adipose tissue (the strongest signal) to 1.1e-5 for RPS26 in skeletal muscle (the most modest), with SUOX associations in tibial nerve (p=2.2e-7) and testis (p=7.4e-8) also among the stronger signals GTEx Portal. No independent replication studies for these eQTL effects appear in the provided materials, and no disease or complex trait GWAS associations for rs11575244 are reported in any of the provided studies. The Quickdraws GWAS methodology paper provides context for biobank-scale variant discovery but does not identify this variant as a specific association hit; these eQTL findings should therefore be treated as preliminary and descriptive.

Tissue-specific expression effects

  • PMEL: Increased expression with the ALT allele in subcutaneous adipose tissue, visceral (omental) adipose tissue, and skeletal muscle GTEx Portal
  • SUOX: Reduced expression with the ALT allele in brain frontal cortex (Brodmann area 9), spleen, tibial nerve, and testis GTEx Portal
  • RPS26: Increased expression with the ALT allele in skeletal muscle GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11575244?

rs11575244 is a genetic variant in the STAT2 region. GTEx eQTL data from 953 donors links it to measurable changes in expression of three genes, PMEL, SUOX, and RPS26, across multiple tissue types including fat, muscle, brain, and spleen.

Which tissues does rs11575244 affect?

GTEx v11 data shows expression effects in subcutaneous adipose tissue, visceral adipose tissue, skeletal muscle, brain frontal cortex, spleen, tibial nerve, and testis. PMEL and RPS26 show increased expression; SUOX shows reduced expression.

Is rs11575244 linked to any disease?

No disease or complex trait associations are reported in the studies currently available for this entry. The available evidence covers only tissue-specific gene expression changes.

What genes does rs11575244 regulate?

According to GTEx v11 cis-eQTL data, rs11575244 is associated with expression changes in PMEL, SUOX, and RPS26. The available studies do not address the biological roles of these genes in the context of this variant.

How reliable is the evidence for rs11575244?

The eQTL associations come from GTEx v11 data based on 953 donors with FDR-based filtering applied. P-values range from 1.1e-14 to 1.1e-5. These are preliminary, expression-level findings with no independent replication reported in the available studies.