Expressive

rs117256701 (CTRB1-BCAR1): Spleen eQTL Variant

Key takeaways

  • This variant increases CTRB1 and CTRB2 gene expression in the spleen, with the spleen showing the strongest effects of any tissue studied.
  • CTRB1 expression is also elevated in the pituitary gland, indicating this variant affects more than one tissue type.
  • A smaller increase in ZFP1 expression is seen in skeletal muscle, with a notably smaller effect than seen in the spleen.
  • No specific disease outcome associations are documented in the available evidence for this variant.

Key takeaways

  • This variant increases CTRB1 and CTRB2 gene expression in the spleen, with the spleen showing the strongest effects of any tissue studied.
  • CTRB1 expression is also elevated in the pituitary gland, indicating this variant affects more than one tissue type.
  • A smaller increase in ZFP1 expression is seen in skeletal muscle, with a notably smaller effect than seen in the spleen.
  • No specific disease outcome associations are documented in the available evidence for this variant.

What the research says A large-scale plasma proteo-genomics study tested over 10.2 million genetic variants for associations with 4,775 proteins in 10,708 generally healthy European-descent participants, mapping protein-quantitative trait loci (pQTLs, variants that influence protein concentrations in blood) across the genome. GTEx v11, drawing on expression data from 953 donors across multiple tissues, classifies rs117256701 as an expression-quantitative trait locus (eQTL, a variant associated with how much of a gene is produced in a given tissue), with its largest effects concentrated in the spleen GTEx Portal. Across all tested tissues, the variant is consistently linked to increased expression of CTRB1, CTRB2, and a nearby uncharacterized gene (ENSG00000290455) in the spleen, as well as CTRB1 in the pituitary gland and ZFP1 in skeletal muscle GTEx Portal.

Reported associations

  • CTRB1 expression in spleen: Increased expression; per-allele effect size +1.76 on a log2 scale (p=1.7x10^-8) GTEx Portal
  • CTRB1 expression in pituitary: Increased expression; effect size +1.13 (p=2.8x10^-6) GTEx Portal
  • CTRB2 expression in spleen: Increased expression; effect size +1.50 (p=1.7x10^-6) GTEx Portal
  • ENSG00000290455 expression in spleen: Increased expression of this nearby uncharacterized gene; effect size +1.79 (p=5.9x10^-9), the single largest per-tissue effect observed at this locus GTEx Portal
  • ZFP1 expression in skeletal muscle: Increased expression; effect size +0.34 (p=7.2x10^-5), substantially smaller than those seen in the spleen GTEx Portal

Evidence quality All expression associations are from GTEx v11 (953 donors, cis-window analysis, FDR < 0.05) GTEx Portal. The three spleen associations (CTRB1, CTRB2, ENSG00000290455) reach p-values between 1.7x10^-6 and 5.9x10^-9, representing robust statistical signals within a large reference dataset. The pituitary CTRB1 association (p = 2.8x10^-6) and the skeletal muscle ZFP1 association (p = 7.2x10^-5) are weaker but remain within the FDR threshold. No disease outcome associations are reported in the studies reviewed here. The clinical significance of these expression effects has not been established in the available evidence.

Tissue-specific expression effects

  • CTRB1: Increased expression in spleen (strongest per-tissue effect at this locus among named genes) and in pituitary gland GTEx Portal
  • CTRB2: Increased expression in spleen GTEx Portal
  • ENSG00000290455: Increased expression in spleen; this uncharacterized nearby gene shows the largest single per-tissue effect observed at this locus GTEx Portal
  • ZFP1: Increased expression in skeletal muscle; effect is substantially smaller than those observed in the spleen GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs117256701 do?

rs117256701 is a genetic variant that influences how much the CTRB1 and CTRB2 genes are expressed in certain tissues. It is most strongly linked to increased gene expression in the spleen, with additional effects seen in the pituitary gland and skeletal muscle.

Which gene is rs117256701 near?

rs117256701 is located in the CTRB1-BCAR1 region of the genome. GTEx eQTL data also shows it affects expression of CTRB2, a nearby uncharacterized gene (ENSG00000290455), and ZFP1.

Is rs117256701 linked to any diseases?

Based on the evidence reviewed here, rs117256701 has been characterized as an expression-quantitative trait locus affecting gene activity in specific tissues. No specific disease outcome associations are documented in the current available evidence.

Which tissues are affected by rs117256701?

GTEx v11 data shows rs117256701 affects gene expression in the spleen (CTRB1, CTRB2, and ENSG00000290455), pituitary gland (CTRB1), and skeletal muscle (ZFP1). The spleen shows the largest effects.

What is an eQTL and why does it matter for rs117256701?

An eQTL (expression-quantitative trait locus) is a genetic variant associated with differences in how much a gene is expressed in a given tissue. rs117256701 is classified as an eQTL because it correlates with higher CTRB1 and related gene expression across multiple tissues, according to GTEx v11 data.