Expressive

rs112953380 (COL14A1): Liver Protein Expression Variant

Key takeaways

  • rs112953380 influences COL14A1 (Collagen Type XIV Alpha 1 Chain) protein levels in the liver, identified in a genome-wide study of 287 human liver samples.
  • This is a protein QTL (pQTL): the variant affects how much protein is produced in tissue, and this effect may not be visible in standard mRNA-based gene expression studies.
  • More than 2,000 similar pQTL variants in the same study were invisible to prior mRNA research, suggesting protein-level genetic regulation in the liver is far more widespread than previously recognized.
  • Evidence comes from a single study with no independent replication documented, so findings should be considered preliminary.

Key takeaways

  • rs112953380 influences COL14A1 (Collagen Type XIV Alpha 1 Chain) protein levels in the liver, identified in a genome-wide study of 287 human liver samples.
  • This is a protein QTL (pQTL): the variant affects how much protein is produced in tissue, and this effect may not be visible in standard mRNA-based gene expression studies.
  • More than 2,000 similar pQTL variants in the same study were invisible to prior mRNA research, suggesting protein-level genetic regulation in the liver is far more widespread than previously recognized.
  • Evidence comes from a single study with no independent replication documented, so findings should be considered preliminary.

What the research says

A genome-wide pQTL (protein quantitative trait locus) study - which measures how genetic variants influence protein levels directly in tissue rather than at the mRNA stage - identified rs112953380 among the variants associated with protein expression in 287 normal human liver samples. The study identified 900 local and 4026 distant pQTL variants across the genome, including more than 2,000 that had not been detected by prior mRNA expression (eQTL) studies, demonstrating that post-transcriptional regulation - genetic effects that operate after mRNA is made and influence how proteins are translated or degraded - is a substantial and undercharacterized layer of hepatic gene regulation. The same dataset was used in variant-trait integration analysis to explore connections between pQTL signals and liver diseases including alcohol dependence, though specific effect sizes or disease links for this variant are not detailed in the available study excerpt.

Reported associations

  • COL14A1 protein expression in human liver: rs112953380 was identified as a pQTL variant associated with COL14A1 protein levels in 287 normal human liver samples, as part of a genome-wide scan identifying 900 local and 4026 distant pQTL variants in total.

Evidence quality

The evidence for rs112953380 rests on a single genome-wide pQTL study of 287 normal human liver samples, which used DIA-TPA, a data-independent acquisition-based absolute protein quantification method. A cohort of 287 is modest by genetic association study standards, where high statistical confidence typically requires thousands to tens of thousands of participants. No p-value, effect size, confidence interval, or directional change in COL14A1 protein levels for this specific variant is reported in the available study excerpt. No independent replication in a separate cohort is documented in the provided literature. The overall study methodology is rigorous and employed whole-proteome quantification across 1,508 proteins, but the evidence specific to this variant should be treated as preliminary and hypothesis-generating until replication data become available.

Lifestyle considerations

No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs112953380?

rs112953380 is a genetic variant identified as a protein quantitative trait locus (pQTL), meaning it is associated with differences in how much COL14A1 protein is produced in the liver. It was found in a genome-wide study analyzing 287 human liver samples.

What is a protein QTL (pQTL) and how is it different from a standard gene expression study?

A pQTL is a genetic variant that influences the level of a specific protein in a tissue. Standard gene expression studies measure mRNA, but mRNA and protein levels often differ substantially because of post-transcriptional regulation - processes that control how proteins are made or broken down after mRNA is produced. pQTL studies capture these additional regulatory layers that mRNA studies miss.

How was rs112953380 discovered?

It was identified in a genome-wide pQTL study of 287 normal human liver samples using a proteomics method called DIA-TPA, which measures absolute protein quantities across the entire proteome. The study found over 4,900 pQTL variants in total across the genome.

How strong is the evidence for rs112953380?

The evidence comes from a single study of 287 liver samples, which is a modest sample size for genetic research. No independent replication has been reported in the available literature, and specific effect sizes for this variant are not detailed in the available study excerpt, so findings are considered preliminary.

Is rs112953380 linked to any liver diseases?

The study that identified this variant explored general connections between liver pQTL signals and diseases including alcohol dependence, but no specific disease link for rs112953380 itself is documented in the available study excerpt.