Expressive

rs116229144 (HLA-C): Multi-tissue eQTL Variant

Key takeaways

  • The ALT allele of rs116229144 is associated with reduced expression of ENSG00000288813 across at least 8 tissue types.
  • Expression reductions are consistent in direction across all tested tissues, with log2 slopes ranging from -0.77 to -1.06.
  • The strongest statistical signal is in whole blood (p=6.4e-21), followed by sun-exposed skin and tibial nerve.
  • These associations describe gene regulation, not disease outcomes; no clinical implications are established by the available evidence.

Key takeaways

  • The ALT allele of rs116229144 is associated with reduced expression of ENSG00000288813 across at least 8 tissue types in GTEx v11 data (953 donors).
  • Expression reductions are consistent in direction across all tested tissues, with log2 slopes ranging from -0.77 in visceral omentum adipose to -1.06 in tibial nerve.
  • The strongest statistical signal is in whole blood (slope -0.94, p=6.4e-21), followed by sun-exposed lower-leg skin (p=1.2e-12) and tibial nerve (p=2.8e-12).
  • These associations describe gene regulation, not disease outcomes; no clinical implications are established by the available evidence.

What the research says The ALT allele of rs116229144 is a cis-eQTL (a variant that affects the expression level of a nearby gene) for ENSG00000288813 across 8 tissue types in GTEx v11 (953 donors, cis-window, FDR<0.05) GTEx Portal. Log2-normalized expression slopes range from -0.77 in visceral omentum adipose tissue to -1.06 in tibial nerve, all reflecting reduced expression with the ALT allele GTEx Portal. The most statistically significant association is in whole blood (slope -0.94, p=6.4e-21) GTEx Portal.

Reported associations

  • ENSG00000288813 expression (tibial nerve): ALT allele linked to reduced expression (slope -1.06, p=2.8e-12) GTEx Portal
  • ENSG00000288813 expression (sun-exposed lower-leg skin): ALT allele linked to reduced expression (slope -0.98, p=1.2e-12) GTEx Portal
  • ENSG00000288813 expression (subcutaneous adipose): ALT allele linked to reduced expression (slope -0.94, p=2.1e-11) GTEx Portal
  • ENSG00000288813 expression (whole blood): ALT allele linked to reduced expression (slope -0.94, p=6.4e-21) GTEx Portal
  • ENSG00000288813 expression (skeletal muscle): ALT allele linked to reduced expression (slope -0.91, p=3.5e-10) GTEx Portal
  • ENSG00000288813 expression (esophagus muscularis): ALT allele linked to reduced expression (slope -0.87, p=6.4e-11) GTEx Portal
  • ENSG00000288813 expression (lung): ALT allele linked to reduced expression (slope -0.79, p=2.5e-11) GTEx Portal
  • ENSG00000288813 expression (visceral omentum adipose): ALT allele linked to reduced expression (slope -0.77, p=1.8e-11) GTEx Portal

Evidence quality All evidence for rs116229144 comes from GTEx v11 eQTL analysis (953 donors, cis-window, FDR<0.05) GTEx Portal. Eight tissue-level associations are reported, all showing the same direction of effect (reduced expression of ENSG00000288813 with the ALT allele), with p-values ranging from 3.5e-10 in skeletal muscle to 6.4e-21 in whole blood. Log2 effect sizes (-0.77 to -1.06) are relatively large for cis-eQTL findings. No disease-trait associations and no conflicting signals were present in the available studies. This evidence is limited to gene expression regulation and does not establish clinical or disease-level outcomes.

Tissue-specific expression effects

  • ENSG00000288813: The ALT allele is associated with reduced expression in tibial nerve, sun-exposed lower-leg skin, subcutaneous adipose, whole blood, skeletal muscle, esophagus muscularis, lung, and visceral omentum adipose - with consistent downward direction across all 8 tissues GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs116229144?

rs116229144 is a genetic variant located near the HLA-C gene. Based on GTEx eQTL data from 953 donors, the ALT allele is consistently linked to reduced expression of a nearby gene (ENSG00000288813) across multiple tissue types.

What does the ALT allele of rs116229144 do?

Carriers of the ALT allele show reduced expression of ENSG00000288813 in tissues including whole blood, tibial nerve, skin, skeletal muscle, lung, and adipose tissue. These are expression-level changes detected in population data, not direct disease outcomes.

Is rs116229144 linked to any diseases?

The available evidence covers only gene expression changes detected through eQTL analysis in GTEx data. No disease associations were reported in the studies provided for this variant.

What is a cis-eQTL?

A cis-eQTL (expression quantitative trait locus) is a genetic variant associated with the expression level of a nearby gene. It describes a regulatory relationship and does not by itself indicate a health outcome.

Which tissues show expression effects for rs116229144?

GTEx v11 analysis found reduced expression of ENSG00000288813 in tibial nerve, sun-exposed lower-leg skin, subcutaneous adipose, whole blood, skeletal muscle, esophagus muscularis, lung, and visceral omentum adipose tissue, all in the same direction.