Expressive

rs117314280 (CARD11): Liver Protein Expression pQTL

Key takeaways

  • rs117314280 is linked to CARD11 protein levels in human liver in a 287-sample proteomics study
  • This variant is a pQTL, meaning it affects how much CARD11 protein is produced, not just whether the gene is transcribed into RNA
  • More than 2000 pQTL variants in the source study had no signal in prior RNA-based studies, showing protein data reveals regulation that mRNA studies miss
  • Evidence is preliminary - only one study is on file and no independent replication is described

Key takeaways

  • rs117314280 is associated with CARD11 protein expression levels in human liver tissue, identified in a genome-wide pQTL study
  • Evidence comes from a single proteomics analysis of 287 normal human liver samples
  • This variant is a pQTL (protein quantitative trait locus), meaning it influences protein abundance rather than only mRNA transcript levels
  • Over 2000 pQTL variants in the source study had no corresponding signal in prior mRNA expression studies, showing that protein-level data captures regulation that RNA studies can miss
  • No drug response or lifestyle associations are on file for this variant from the provided source

What the research says rs117314280 was identified as a protein quantitative trait locus (pQTL, meaning a genetic variant associated with differences in protein abundance rather than just mRNA levels) for CARD11 (Caspase Recruitment Domain Family Member 11) in a genome-wide pQTL study of 287 normal human liver samples. That study absolutely quantified 1508 liver proteins using data-independent acquisition mass spectrometry (DIA-TPA), identifying 900 local pQTL variants and 4026 distant pQTL variants overall. The authors reported that over 2000 of those pQTL variants lacked a corresponding signal in prior mRNA expression (eQTL) studies, indicating extensive post-transcriptional regulation of protein levels in liver tissue.

Reported associations

  • CARD11 protein expression in liver tissue: rs117314280 was reported as a pQTL variant associated with CARD11 protein abundance in 287 normal human liver samples; no specific effect size for this individual variant was available in the provided source text

Evidence quality The supporting analysis examined 287 normal human liver samples and applied data-independent acquisition mass spectrometry for absolute protein quantification, a rigorous approach to measuring protein levels. The study identified thousands of pQTL variants across the liver proteome and noted extensive discrepancy between protein-level and mRNA-level genetic associations. No p-value, odds ratio, or percentage of variance explained specific to rs117314280 was included in the provided source text. Only one study covering this variant is on file, and no independent replication of this specific association is described. The study characterizes its dataset as a resource for the scientific community, suggesting additional variant-level details may exist in supplementary materials not provided here. Evidence for this variant should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117314280?

rs117314280 is a single nucleotide polymorphism - a one-letter change in DNA - that has been associated with differences in CARD11 protein levels in human liver tissue in a genome-wide proteomics study of 287 normal liver samples.

What is a pQTL and how is it different from an eQTL?

A pQTL (protein quantitative trait locus) is a genetic variant associated with differences in how much of a specific protein is present in a tissue, measured directly from protein samples. An eQTL measures the same idea at the mRNA level. Because mRNA and protein levels often diverge, pQTLs can capture regulatory effects that eQTL studies miss entirely.

How strong is the evidence for rs117314280?

Evidence is preliminary. The association comes from a single study of 287 normal human liver samples using mass spectrometry. No independent replication or specific effect size for this variant was available in the source text.

Why does protein-level genetic data matter?

mRNA levels correlate poorly with actual protein levels for many genes due to post-transcriptional factors such as translation efficiency and protein degradation. A study in 287 human livers found that over 2000 pQTL variants had no corresponding signal in prior mRNA-based studies, highlighting the unique value of protein-level data.