rs117317973 (RPL17P20/RN7SL492P): PAICS skin eQTL
Key takeaways
- rs117317973 is located near pseudogenes RPL17P20 and RN7SL492P and acts as an eQTL for PAICS in non-sun-exposed skin tissue
- Carrying the alternate allele is linked to increased PAICS expression, with an effect size of +0.20 on a log2-normalized scale
- PAICS encodes an enzyme involved in the de novo purine biosynthesis pathway
- No replicated disease or trait associations are documented for this variant in available studies
Key takeaways
- rs117317973 is located near pseudogenes RPL17P20 and RN7SL492P and acts as an eQTL for PAICS in non-sun-exposed skin tissue
- Carrying the alternate allele is linked to increased PAICS expression, with an effect size of +0.20 on a log2-normalized scale
- PAICS encodes an enzyme involved in the de novo purine biosynthesis pathway
- No replicated disease or trait associations are documented for this variant in available studies
What the research says
GTEx v11 data, drawn from 953 donors using cis-window analysis at FDR < 0.05, identifies rs117317973 as a cis-eQTL (a variant that influences how much a nearby gene is expressed) for PAICS in non-sun-exposed suprapubic skin tissue, with the alternate allele associated with increased PAICS expression (slope +0.20, p=7.6e-5) GTEx Portal. This signal is restricted to this single tissue type in the GTEx v11 dataset; no expression associations in other tissues and no disease or trait associations are documented in the available data GTEx Portal.
Reported associations
- PAICS expression (non-sun-exposed suprapubic skin): the alternate allele is associated with increased PAICS expression in this specific tissue (slope +0.20 on a log2-normalized scale, p=7.6e-5, GTEx v11, n=953 donors) GTEx Portal
Evidence quality
The only available evidence for rs117317973 is a tissue-specific eQTL signal from GTEx v11 GTEx Portal, based on 953 donors. The effect size is modest (slope +0.20 on a log2-normalized scale) and the association is confined to non-sun-exposed suprapubic skin; no signal is reported in other tissues in this dataset. No disease or complex-trait GWAS associations are documented in the provided studies, and no independent replication data are available. The clinical relevance of this tissue-specific expression effect has not been established. This evidence is preliminary.
Tissue-specific expression effects
- PAICS: increased expression in non-sun-exposed suprapubic skin (slope +0.20, p=7.6e-5, GTEx v11); no effect reported in other tissues GTEx Portal
Lifestyle considerations
No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117317973?
rs117317973 is a genetic variant located in a region flanked by two pseudogenes, RPL17P20 and RN7SL492P. GTEx data from 953 donors shows it influences expression of the PAICS gene specifically in non-sun-exposed suprapubic skin tissue.
What does PAICS do?
PAICS is a gene that encodes an enzyme involved in the de novo purine biosynthesis pathway, the process by which cells build purines from simpler molecules. Purines are essential building blocks for DNA, RNA, and energy molecules such as ATP.
Is rs117317973 linked to any disease?
No disease associations are currently documented in the available studies for this variant. The only reported effect is increased PAICS gene expression in non-sun-exposed suprapubic skin tissue.
What is an eQTL and why does it matter?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed. For rs117317973, carrying the alternate allele is associated with higher PAICS expression in a specific skin tissue type, though the functional and clinical significance of this remains under investigation.
What are RPL17P20 and RN7SL492P?
RPL17P20 and RN7SL492P are pseudogenes, genomic sequences that resemble functional genes but do not produce working proteins. They serve as genomic landmarks that identify the chromosomal region where rs117317973 is located.