Expressive

rs11555096 (FAH): Tissue Expression Variant

Key takeaways

  • rs11555096 is associated with increased FAH gene expression in tibial artery and subcutaneous fat tissue
  • The expression-boosting effect is roughly three times stronger in the artery than in fat
  • This variant is an eQTL: it influences how much of a gene is produced, not the protein's structure
  • Evidence comes from GTEx v11 data across 953 tissue donors, meeting a rigorous statistical threshold
  • No disease associations for this variant appear in the proteogenomic studies reviewed

Key takeaways

  • rs11555096 is associated with increased FAH gene expression in tibial artery and subcutaneous fat tissue
  • The expression-boosting effect is roughly three times stronger in the artery than in fat
  • This variant is an eQTL: it influences how much of a gene is produced, not the protein's structure
  • Evidence comes from GTEx v11 data across 953 tissue donors, meeting a rigorous statistical threshold
  • No disease associations for this variant appear in the proteogenomic studies reviewed

What the research says Large-scale proteogenomic research has established that genetic variants frequently regulate gene expression in tissue-specific ways, providing windows into disease-relevant biology PMID 29875488 PMID 34648354. rs11555096 is identified in GTEx v11 as an expression quantitative trait locus (eQTL) for FAH, meaning the alternate allele is statistically associated with higher FAH expression in two specific tissues GTEx Portal. Both associations were detected across 953 donors and passed a false discovery rate threshold below 5% GTEx Portal.

Reported associations

  • FAH expression, tibial artery: The alternate allele is linked to increased FAH expression in tibial artery tissue (effect slope +0.61, p=3.3×10^-6) GTEx Portal
  • FAH expression, subcutaneous adipose tissue: The alternate allele is linked to increased FAH expression in subcutaneous fat tissue (effect slope +0.22, p=1.9×10^-6) GTEx Portal

Evidence quality Both associations were identified in GTEx v11 across 953 donors, meeting a false discovery rate below 5% (FDR<0.05). The tibial artery association (slope +0.61, p=3.3×10^-6) is substantially stronger than the subcutaneous adipose association (slope +0.22, p=1.9×10^-6), indicating a more robust regulatory relationship in arterial tissue. The evidence base is limited to tissue-level gene expression; the proteogenomic studies reviewed here, which collectively characterized protein-variant associations across cohorts of 287 to 10,708 individuals, do not report disease associations specific to rs11555096 PMID 29875488 PMID 33941219 PMID 35396396. eQTL effects describe gene regulation and should not be interpreted as direct indicators of clinical risk.

Tissue-specific expression effects

  • FAH: The alternate allele is associated with increased expression in both tibial artery (slope +0.61) and subcutaneous adipose tissue (slope +0.22), with the artery showing the larger effect GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11555096?

rs11555096 is a genetic variant classified as an expression quantitative trait locus (eQTL) for the FAH gene. It is associated with differences in how much FAH is produced in certain tissues rather than changing the protein's structure.

Which tissues are affected by rs11555096?

Based on GTEx v11 data from 953 donors, rs11555096 is associated with increased FAH expression in tibial artery tissue and subcutaneous adipose (fat) tissue. The effect in the artery is roughly three times larger than in fat.

What does it mean for a variant to be an eQTL?

An eQTL, or expression quantitative trait locus, is a genetic variant associated with measurable differences in how much a particular gene is expressed in a tissue. eQTLs reveal how genetic variation shapes gene regulation, but an eQTL association alone does not establish disease causation.

Is rs11555096 linked to any diseases?

Proteogenomic studies reviewed here, spanning thousands of protein-variant associations across cohorts up to 10,708 individuals, do not report disease associations for rs11555096. Current evidence is limited to tissue-level gene expression effects.

How reliable is the rs11555096 evidence?

Both eQTL associations were identified in GTEx v11 data from 953 tissue donors and passed a false discovery rate below 5%, which is a standard statistical threshold for expression studies. However, the evidence is currently limited to gene expression and has not been extended to disease outcomes in the reviewed studies.