rs112601042 (LINC02214/RPL35AP15): Liver pQTL
Key takeaways
- rs112601042 lies near LINC02214 (a non-coding RNA gene) and RPL35AP15 (a ribosomal pseudogene), two loci studied in the context of liver protein regulation.
- It was identified in a genome-wide scan of 287 human liver samples that mapped nearly 5,000 protein quantitative trait loci.
- Protein-level variants like this one can affect biology through pathways that standard mRNA gene expression studies do not detect.
- Evidence for this specific variant comes from a single study and has not been independently replicated.
Key takeaways
- rs112601042 lies near LINC02214 (a long intergenic non-coding RNA gene) and RPL35AP15 (a ribosomal protein pseudogene), two loci in a region studied for liver protein regulation.
- It was identified in a genome-wide scan of 287 human liver samples that mapped nearly 5,000 protein quantitative trait loci (pQTLs - genetic variants associated with protein, not just mRNA, levels).
- Protein-level variants like this one can affect biology through pathways that standard mRNA gene expression studies do not detect.
- Evidence for this specific variant comes from a single study and has not been independently replicated in the available literature.
What the research says A genome-wide pQTL study of 287 normal human liver samples identified 900 local and 4,026 distant pQTL variants, with over 2,000 of those having no matching mRNA-level signal in prior eQTL (expression quantitative trait locus - a variant that affects messenger RNA abundance) studies. rs112601042, in the LINC02214 - RPL35AP15 locus, falls within this pQTL landscape; the study also identified 53 pQTL hotspot regions and explored connections between protein-expression variants and liver diseases including alcohol dependence. Specific effect sizes for this individual variant were not reported in the available study text.
Reported associations
- Liver protein expression (pQTL): This variant was catalogued as a protein quantitative trait locus in human liver tissue in a genome-wide study of 287 liver samples that identified 900 local and 4,026 distant pQTL variants across the genome; no individual effect size for this locus was provided in the available study text.
Evidence quality The sole available source is a single genome-wide pQTL study of 287 normal human liver samples using DIA-TPA proteomics (a data-independent acquisition method combined with a total protein approach for absolute protein quantification). The study catalogued nearly 5,000 pQTL variants genome-wide, with 1,133 mapping to transcriptional regulatory regions and 53 clustering into hotspot zones. Specific p-values and effect sizes for this variant individually were not provided in the available study text. No independent replication exists in the provided sources. Evidence for this locus is therefore preliminary and should be treated as exploratory.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs112601042?
rs112601042 is a genetic variant located near LINC02214, a long intergenic non-coding RNA gene, and RPL35AP15, a ribosomal protein pseudogene. It was flagged in a genome-wide study of protein expression regulation in human liver tissue.
What is a pQTL and why does it matter?
A pQTL (protein quantitative trait locus) is a genetic variant associated with the abundance of a specific protein in a tissue. Unlike eQTLs, which track messenger RNA levels, pQTLs can reveal regulatory effects that occur after RNA is made - a layer of biology that mRNA studies miss entirely.
What does LINC02214 do?
LINC02214 is a long intergenic non-coding RNA gene, meaning it produces RNA molecules that do not code for protein. Its specific functional role in liver biology is not yet well characterized based on the available study.
Is rs112601042 linked to any disease?
The available study does not directly link this variant to a specific disease. The study explored genome-wide connections between liver protein expression and conditions including alcohol dependence, but no direct disease association for this locus was reported in the available text.
How reliable is the evidence for rs112601042?
Evidence comes from a single genome-wide pQTL study of 287 human liver samples. No independent replication is available in the provided sources, so findings should be considered preliminary and exploratory.