rs114559028 (SLC1A1): Liver pQTL Variant
Key takeaways
- rs114559028 at the SLC1A1 locus is one of 2,000+ variants found to regulate liver protein levels without any detectable mRNA signal
- It is classified as a pQTL (protein quantitative trait locus), meaning it is associated with differences in how much protein is produced in liver cells
- Evidence comes from a single study of 287 human liver samples, with no independent replication reported in the available literature
- No disease associations or lifestyle factors have been linked to this variant in the available research
Key takeaways
- rs114559028 at the RNU6-694P - SLC1A1 locus is one of 2,000+ variants found to regulate liver protein levels without any detectable signal at the mRNA level
- It is classified as a pQTL (protein quantitative trait locus), meaning it is associated with differences in how much protein is produced in liver cells
- Evidence comes from a single study of 287 human liver samples; no independent replication has been reported in the available literature
- No disease associations or lifestyle factors have been linked to this variant in the available research
What the research says A genome-wide pQTL study in 287 normal human liver samples identified variants at the RNU6-694P - SLC1A1 locus as protein expression regulators in the liver. The study used liquid chromatography-tandem mass spectrometry (LC-MS/MS) proteomics with a data-independent acquisition total protein approach (DIA-TPA) to absolutely quantify 1,508 proteins across all samples. More than 2,000 of the pQTL variants identified (a group that includes rs114559028) had not been detected in prior mRNA expression (eQTL) studies, indicating that these variants influence protein levels through post-transcriptional mechanisms, meaning regulatory effects that occur after mRNA is produced.
Reported associations
- Liver protein expression regulation: rs114559028 was identified as a pQTL variant in a genome-wide analysis of 287 human liver samples; the study found 900 local pQTL variants and 4,026 distant pQTL variants in total, of which 1,133 mapped to transcriptional regulatory regions
Evidence quality Evidence for rs114559028 derives from a single genome-wide pQTL study in 287 normal human liver samples. The study identified 4,926 total pQTL variants (900 local and 4,026 distant) and 53 pQTL genome hotspots, and described 804 potential regulatory interactions among 595 predicted regulators (including non-coding RNAs) and 394 proteins. No p-value threshold or specific effect size for this locus alone is provided in the available study text, no independent replication cohort is described, and no functional follow-up specific to this locus is reported. These findings should be treated as preliminary and single-study.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs114559028?
rs114559028 is a genetic variant at the RNU6-694P - SLC1A1 locus that was identified as a protein quantitative trait locus (pQTL) in a genome-wide study of 287 human liver samples, meaning it is associated with differences in protein expression levels in the liver.
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 protein a gene produces. An eQTL affects mRNA levels instead. More than 2,000 pQTL variants found in the same study had no signal in prior mRNA studies, showing that many genetic effects on protein levels happen after mRNA is made, a process called post-transcriptional regulation.
Is rs114559028 linked to any diseases?
No specific disease association for rs114559028 is documented in the available literature. The study that identified it explored broad connections between liver pQTL variants and conditions such as alcohol dependence, but no direct link for this locus alone was reported.
How reliable is the evidence for rs114559028?
Evidence comes from a single genome-wide pQTL study of 287 normal human liver samples. No independent replication in a separate cohort has been reported in the available literature, so findings should be treated as preliminary.