Expressive

rs115838820 (UBQLN4P2/ATP5PBP4): Liver pQTL

Key takeaways

  • rs115838820 is in the UBQLN4P2 - ATP5PBP4 locus and was identified in a genome-wide protein quantitative trait loci study of human liver tissue.
  • The source study analyzed 287 normal human liver samples using absolute protein quantification, identifying variants that affect protein levels rather than just mRNA levels.
  • More than 2,000 pQTL variants in this study had no match in standard mRNA-based expression databases, suggesting post-transcriptional regulation is widespread in the liver.
  • No effect size or direction specific to this variant is available from the provided study text.

Key takeaways

  • rs115838820 sits in a genomic region containing UBQLN4P2 (a pseudogene locus) and ATP5PBP4, identified in a genome-wide protein quantitative trait loci (pQTL) study of human liver tissue.
  • The source study quantified proteins across 287 normal human liver samples, identifying variants that regulate protein levels independently of mRNA levels.
  • More than 2,000 of the pQTL variants found in this study had no previously reported effect in standard gene expression databases, suggesting widespread post-transcriptional regulation in the liver.
  • No effect size or direction specific to rs115838820 is available from the provided study text.

What the research says A genome-wide pQTL study analyzed 287 normal human liver samples to identify genetic variants associated with protein abundance rather than mRNA levels, addressing the known disconnect between transcript and protein levels in liver tissue. The study identified 900 local (cis) pQTL variants and 4,026 distant (trans) pQTL variants, with more than 2,000 of those variants lacking any previously reported effect in eQTL databases. Variants in this analysis, including those in the UBQLN4P2 - ATP5PBP4 locus, were linked to post-transcriptional regulatory mechanisms not captured by standard mRNA-level studies.

Reported associations

  • Hepatic protein expression regulation: rs115838820, within this locus, was captured as part of a genome-wide pQTL scan of 287 human liver samples; the provided text does not report a specific protein target, effect size, or direction for this individual variant.

Evidence quality The single available study used 287 normal human liver samples with a data-independent acquisition (DIA) proteomics pipeline for absolute protein quantification, representing a moderately sized discovery cohort for a pQTL analysis. No independent replication of findings specific to rs115838820 is described in the provided material. No p-value or effect size for this variant specifically appears in the text. The study's overall scope (900 local pQTL variants, 4,026 distant pQTL variants, more than 2,000 novel relative to prior eQTL databases) positions it as a discovery-phase resource requiring further validation in independent cohorts. Evidence for this specific variant should therefore be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs115838820?

rs115838820 is a genetic variant in a genomic region designated UBQLN4P2 - ATP5PBP4. It was identified in a genome-wide study examining how genetic variants influence protein levels in human liver tissue.

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

A protein quantitative trait locus (pQTL) is a genetic variant associated with differences in protein abundance in a tissue, while an expression quantitative trait locus (eQTL) is associated with differences in mRNA levels. Because protein and mRNA levels often do not correlate well, pQTL studies reveal regulatory effects that mRNA-based analyses miss.

Why do protein levels matter if scientists already study mRNA?

Proteins are the functional molecules that carry out work in cells, and their abundance is shaped by translation, folding, and degradation processes that mRNA levels cannot capture. A pQTL study can reveal genetic effects on protein output that would be invisible to standard gene expression studies.

Is rs115838820 linked to any disease?

The available study did not report a direct disease association for rs115838820 specifically. The broader study noted potential connections between pQTL variants and liver conditions including alcohol dependence, but no specific association for this variant is documented in the provided data.