rs118033375 (PAPPA): Liver Protein Expression Variant
Key takeaways
- rs118033375 is linked to PAPPA protein expression levels in human liver tissue.
- The association was found in a protein quantitative trait loci (pQTL) study of 287 normal human liver samples.
- pQTL variants like this one reveal genetic effects on protein levels that standard gene expression studies can miss.
- Evidence is preliminary, coming from a single study without reported replication in the provided sources.
Key takeaways
- rs118033375 is linked to PAPPA protein expression levels in human liver tissue.
- The association was found in a protein quantitative trait loci (pQTL) study of 287 normal human liver samples.
- pQTL variants like this one reveal genetic effects on protein levels that standard gene expression studies can miss.
- Evidence is preliminary, coming from a single study without reported replication in the provided sources.
What the research says A genome-wide pQTL study in 287 normal human liver samples identified rs118033375 as a variant associated with PAPPA protein expression. The study used a label-free absolute protein quantification method called DIA-TPA, which measures protein levels directly from mass spectrometry signals rather than from mRNA, capturing post-transcriptional effects that mRNA-based studies can miss. Across 1508 quantified hepatic proteins, the study found 900 local pQTL variants and 4026 distant pQTL variants in total.
Reported associations
- PAPPA protein expression (liver): rs118033375 was identified as a pQTL variant associated with the protein's levels in normal human liver tissue, in a study of 287 samples that quantified 1508 hepatic proteins using mass spectrometry-based proteomics.
Evidence quality The association of rs118033375 with the protein's expression in liver tissue derives from a single pQTL study of 287 normal human samples. Specific p-values or effect sizes for this individual variant were not reported in the available study materials. The authors noted that more than 2000 of the pQTL variants they identified had not been reported in prior mRNA-level eQTL studies, indicating that many findings, including potentially this one, are novel and have not yet been independently replicated. No conflicting studies were provided in the source materials. The evidence should be considered preliminary until independent replication is reported.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs118033375?
rs118033375 is a genetic variant associated with PAPPA protein expression in human liver tissue, identified through a genome-wide protein quantitative trait loci (pQTL) study of 287 normal liver samples.
What is a protein quantitative trait locus (pQTL)?
A pQTL is a genetic variant statistically linked to differences in protein abundance. Unlike standard gene expression studies that measure mRNA levels, pQTL studies measure actual protein levels and can detect effects that occur after a gene is transcribed.
How reliable is the evidence for rs118033375?
The evidence comes from a single study of 287 human liver samples. No independent replication has been reported in the available sources, so the finding should be considered preliminary.
Is rs118033375 linked to any disease?
The study provided did not report a direct disease association for this specific variant. The broader research explored connections between liver pQTL variants and liver-related conditions such as alcohol dependence at a general level, but did not link rs118033375 to any condition specifically.
What does rs118033375 affect in the body?
Based on the available research, rs118033375 is associated with how much PAPPA protein is produced in human liver cells. It was identified as a pQTL, meaning it influences protein levels rather than being directly tied to a specific trait or disease outcome.