rs116944265 (CBX5): Gene Expression Variant
Key takeaways
- rs116944265 is labeled under CBX5 but its documented eQTL effect targets a neighboring gene, PRR13, in cultured fibroblast cells.
- The alternative allele reduces PRR13 gene expression in cultured fibroblasts, based on GTEx v11 data from 953 donors.
- This is an expression-level (eQTL) signal only; no confirmed disease or clinical trait associations are reported in the provided evidence.
- Evidence is limited to a single tissue type with no independent replication reported in the provided sources.
Key takeaways
- rs116944265 is labeled under CBX5 but its documented eQTL effect targets a neighboring gene, PRR13, in cultured fibroblast cells.
- The alternative allele of this variant reduces PRR13 gene expression in cultured fibroblasts, based on GTEx v11 data from 953 donors.
- This is an expression-level (eQTL) signal only; no confirmed disease or clinical trait associations are reported in the provided evidence.
- Evidence is limited to a single tissue type with no independent replication reported in the provided sources.
What the research says rs116944265 is located within the CBX5 locus. GTEx v11 eQTL analysis of 953 donors found that the alternative allele is associated with reduced PRR13 expression in Cells_Cultured_fibroblasts, with a slope of -0.25 and p=1.1e-4 GTEx Portal. No trait-level or disease associations specific to this locus are reported in the provided study material.
Reported associations
- PRR13 gene expression (cultured fibroblasts): The alternative allele is associated with reduced PRR13 expression (eQTL slope -0.25, p=1.1e-4, GTEx v11, n=953 donors) GTEx Portal
Evidence quality The only association reported for rs116944265 in the provided sources is an eQTL (expression quantitative trait locus, meaning a genetic variant linked to differences in how actively a gene is read by cells) signal for PRR13 expression in Cells_Cultured_fibroblasts, from GTEx v11 (n=953 donors, p=1.1e-4) GTEx Portal. This finding covers a single tissue type and no independent replication is reported in the provided data. A large-scale GWAS methodology study (Quickdraws, n=405,088 UK Biobank participants, 79 quantitative and 50 binary traits) is included in the source material but does not report specific association results for this variant. Overall, evidence for phenotypic or clinical relevance of this locus is absent from the provided sources, and the eQTL finding should be considered preliminary until replicated across additional tissues and cohorts.
Tissue-specific expression effects
- PRR13: Reduced expression in Cells_Cultured_fibroblasts when the alternative allele is present GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs116944265?
rs116944265 is a single-nucleotide variant located in the CBX5 gene region. Its best-documented effect is regulatory: the alternative allele reduces expression of the nearby PRR13 gene in cultured fibroblast cells, based on GTEx v11 eQTL data.
Is rs116944265 linked to any disease?
No disease or clinical trait associations for rs116944265 are reported in the provided sources. The available evidence covers only a gene expression effect in fibroblast cells.
What is an eQTL and why does it matter?
An eQTL (expression quantitative trait locus) is a genetic variant associated with differences in how actively a gene is read by cells. It describes a regulatory mechanism rather than a direct cause of disease, but eQTL signals can guide research into which genes are relevant to biological pathways.
Why does a CBX5 variant affect PRR13 instead of CBX5 directly?
Genetic variants are often labeled by the closest or most prominent gene in a region, but their regulatory effects can extend to neighboring genes. GTEx eQTL data shows this variant influences PRR13 expression in fibroblasts rather than CBX5 expression directly.
What is GTEx?
GTEx (Genotype-Tissue Expression) is a large research project that maps how genetic variants affect gene expression across many human tissues and cell types. The v11 dataset used here draws on data from 953 donors.