Expressive

rs1213356 (HTR1B-RPS6P7): eQTL Tissue Expression

Key takeaways

  • The alternate allele of rs1213356 is associated with reduced HTR1B expression in tibial nerve, testis, and subcutaneous fat.
  • The same allele reduces expression of a nearby gene (ENSG00000302932) in heart left ventricle and lung.
  • A third gene at this locus (ENSG00000296734) shows increased expression in aorta and tibial artery, opposite in direction to the HTR1B effect.
  • All current evidence is limited to gene-expression (eQTL) findings; no clinical disease associations are on file.

Key takeaways

  • The alternate allele of rs1213356 is associated with reduced HTR1B expression in tibial nerve, testis, and subcutaneous fat tissue.
  • The same allele reduces expression of a nearby gene (ENSG00000302932) in heart left ventricle and lung.
  • A third gene at this locus (ENSG00000296734) shows increased expression in aorta and tibial artery, opposite in direction to the HTR1B effect.
  • All current evidence is limited to gene-expression (eQTL) associations; no clinical disease associations are on file for this variant.

What the research says GTEx v11 eQTL analysis from 953 donors (false discovery rate, or FDR, below 5%) links the alternate allele of rs1213356 to reduced HTR1B expression in tibial nerve (slope −0.20, p=4.7×10^-9), testis (slope −0.17, p=2.1×10^-4), and subcutaneous adipose tissue (slope −0.09, p=1.9×10^-4) GTEx Portal. The same allele is associated with reduced expression of ENSG00000302932 in heart left ventricle and lung, and with increased expression of ENSG00000296734 in aorta and tibial artery, demonstrating opposing directional effects from a single variant at this locus GTEx Portal. A meta-analysis of protein and mRNA quantitative trait loci (pQTLs and eQTLs) in Candida-stimulated immune cells found that only approximately 35% of protein-level genetic associations correlated with mRNA expression at single-cell resolution, underscoring that eQTL signals like those observed here do not necessarily predict protein abundance changes.

Reported associations

  • HTR1B expression (tibial nerve): Alternate allele linked to reduced expression; slope −0.20, p=4.7×10^-9 GTEx Portal
  • HTR1B expression (testis): Alternate allele linked to reduced expression; slope −0.17, p=2.1×10^-4 GTEx Portal
  • HTR1B expression (subcutaneous adipose): Alternate allele linked to reduced expression; slope −0.09, p=1.9×10^-4 GTEx Portal
  • ENSG00000302932 expression (heart left ventricle): Alternate allele linked to reduced expression; slope −0.24, p=2.2×10^-5 GTEx Portal
  • ENSG00000302932 expression (lung): Alternate allele linked to reduced expression; slope −0.19, p=2.4×10^-4 GTEx Portal
  • ENSG00000296734 expression (aorta): Alternate allele linked to increased expression; slope +0.24, p=7.0×10^-5 GTEx Portal
  • ENSG00000296734 expression (tibial artery): Alternate allele linked to increased expression; slope +0.18, p=8.0×10^-5 GTEx Portal

Evidence quality All association data derive from GTEx v11 (953 donors, cis-window eQTL analysis, FDR<0.05) GTEx Portal. The tibial nerve HTR1B association at p=4.7×10^-9 is the most statistically robust signal and exceeds conventional genome-wide significance thresholds; the remaining six tissue associations range from p=2.2×10^-5 to p=2.4×10^-4 after FDR correction. No genome-wide association study (GWAS) disease or clinical trait signals appear in the studies on file. A study of pQTL and eQTL overlap in stimulated immune cells found that only approximately 35% of protein-level associations co-localized with gene-expression signals, suggesting the eQTL effects observed for this variant may not translate to protein abundance or downstream phenotypic changes. No independent replication data specific to rs1213356 are available from the provided evidence base.

Tissue-specific expression effects

  • HTR1B: The alternate allele is associated with reduced expression in tibial nerve, testis, and subcutaneous adipose tissue GTEx Portal
  • ENSG00000302932: The alternate allele is associated with reduced expression in heart left ventricle and lung GTEx Portal
  • ENSG00000296734: The alternate allele is associated with increased expression in aorta and tibial artery, the opposing direction to the HTR1B effect at this locus GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1213356?

rs1213356 is a genetic variant located near the HTR1B and RPS6P7 genes. GTEx eQTL data from 953 donors links it to changes in expression of HTR1B and two nearby genes across several tissue types.

What gene does rs1213356 affect?

rs1213356 is most strongly associated with reduced expression of HTR1B, particularly in tibial nerve tissue. It also affects two additional nearby genes: one shows reduced expression in heart and lung, and another shows increased expression in aorta and tibial artery.

Is rs1213356 linked to any diseases?

Based on the studies currently on file, rs1213356 has not been associated with any disease or clinical trait. The available data covers gene-expression associations only, and it is not established whether these expression changes affect health outcomes.

What does an eQTL mean for rs1213356?

An eQTL (expression quantitative trait locus) means rs1213356 is statistically linked to higher or lower activity of nearby genes in certain tissues. Research has found that only about 35% of such expression signals correspond to detectable changes in protein levels, so these findings represent a mechanism clue rather than a confirmed functional effect.

Why does rs1213356 have opposite effects in different tissues?

GTEx data shows that rs1213356 reduces HTR1B expression in nerve and fat tissue while increasing expression of a different nearby gene in artery tissue. Tissue-specific directionality is a known property of eQTL variants, where the same allele can have different regulatory consequences depending on cellular context.