rs11968721 (SRPK1): Pancreatic Expression Variant
Key takeaways
- rs11968721 increases SRPK1 expression in the pancreas, based on GTEx tissue expression data from 953 donors
- The variant simultaneously affects expression of five genes in pancreatic tissue, suggesting it may sit in a shared regulatory region
- CLPSL1 expression is increased not only in pancreas but also in brain cortex and anterior cingulate cortex
- One neighboring gene (ENSG00000307849) shows reduced rather than increased expression, indicating the variant has both activating and suppressive regulatory effects nearby
- All current evidence is from gene expression studies; no clinical disease associations are documented in the available sources
Key takeaways
- rs11968721 increases SRPK1 (Serine/Arginine-rich Protein Kinase 1) expression in the pancreas, based on GTEx v11 tissue expression data from 953 donors
- The variant simultaneously affects expression of five genes in pancreatic tissue, suggesting it may sit in a shared regulatory region
- CLPSL1 expression is increased not only in pancreas but also in two brain regions: cortex and anterior cingulate cortex (BA24)
- One neighboring gene (ENSG00000307849) shows reduced rather than increased expression, indicating the variant has both activating and suppressive effects on nearby genes
- All current evidence is from gene expression studies; no clinical disease associations are documented in the available sources
What the research says GTEx v11 expression data from 953 donors shows that rs11968721 is significantly associated with increased SRPK1 expression in pancreatic tissue (slope, a measure of per-allele expression change, +0.38; p=1.3e-14) GTEx Portal. Five additional genes in pancreatic tissue share this eQTL signal, with the strongest effect for CLPSL2 (slope +0.57, p=1.4e-12) GTEx Portal. A large-scale UK Biobank proteomics study (Suhre K, Cell Genomics, 2024) analyzed 1,463 proteins across more than 54,000 participants, finding that protein-ratio analysis increased genetic signal discovery by 24.7% and that such signals are 7.6-fold enriched in established protein-protein interactions, providing methodological context for identifying proteogenomic associations at this locus.
Reported associations
- SRPK1 expression (Pancreas): Increased expression in pancreatic tissue (slope +0.38, p=1.3e-14) GTEx Portal
- CLPSL2 expression (Pancreas): Increased expression in pancreas; strongest per-tissue effect among all reported genes for this variant (slope +0.57, p=1.4e-12) GTEx Portal
- CLPSL1 expression (Pancreas): Increased expression in pancreas (slope +0.54, p=7.3e-11) GTEx Portal
- CLPSL1 expression (Brain Cortex): Increased expression in brain cortex (slope +0.47, p=1.9e-8) GTEx Portal
- CLPSL1 expression (Brain Anterior Cingulate Cortex BA24): Increased expression in the anterior cingulate cortex (slope +0.45, p=5.6e-7) GTEx Portal
- LHFPL5 expression (Pancreas): Increased expression in pancreas (slope +0.46, p=2.4e-11) GTEx Portal
- CLPS expression (Pancreas): Increased expression in pancreas (slope +0.33, p=2.2e-10) GTEx Portal
- ENSG00000307849 expression (Pancreas): Reduced expression in pancreas, contrasting with the increased-expression direction seen in all other nearby genes (slope -0.41, p=5.0e-8) GTEx Portal
Evidence quality All eQTL associations for rs11968721 are derived from GTEx v11 data (953 donors), with each association passing a false discovery rate (FDR) threshold below 0.05. P-values across the six affected genes range from 5.0e-8 to 1.3e-14 GTEx Portal, all within standard genome-wide significance thresholds. No independent replication of these eQTL signals is documented in the provided sources. A notable internal contrast exists: while five genes show increased pancreatic expression, ENSG00000307849 shows reduced expression in the same tissue, which may reflect complex local regulatory architecture. The pQTL study (Suhre K, Cell Genomics, 2024) provides large-scale methodological context for proteogenomic discovery in the UK Biobank (54,000+ participants, 1,463 proteins) but does not report variant-level effect estimates for rs11968721 in the text provided. Overall, the evidence is statistically robust at the expression level but is considered preliminary for clinical interpretation, as eQTL associations establish regulatory influence and do not directly demonstrate disease causation.
Tissue-specific expression effects
- SRPK1: Increased expression in pancreas GTEx Portal
- CLPSL2: Increased expression in pancreas GTEx Portal
- CLPSL1: Increased expression in pancreas, brain cortex, and anterior cingulate cortex (BA24) GTEx Portal
- LHFPL5: Increased expression in pancreas GTEx Portal
- CLPS: Increased expression in pancreas GTEx Portal
- ENSG00000307849: Reduced expression in pancreas GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs11968721?
rs11968721 is a genetic variant located near the SRPK1 gene. It is classified as an expression quantitative trait locus (eQTL), meaning it is statistically associated with differences in how much certain genes are expressed in specific tissues, particularly the pancreas.
What does rs11968721 do to SRPK1?
Based on GTEx v11 data from 953 donors, this variant is associated with increased SRPK1 expression specifically in pancreatic tissue. This is a statistical association from tissue expression data and does not indicate a direct disease outcome.
Is rs11968721 linked to any diseases?
No clinical disease associations for rs11968721 are documented in the available sources. Current evidence is limited to gene expression studies showing the variant affects expression of several genes in pancreatic and brain tissue.
Why does rs11968721 affect so many genes at once?
The pattern of multiple genes in the same tissue sharing a single eQTL signal suggests this variant may sit within a regulatory element that controls the expression of several nearby genes simultaneously. One gene shows reduced expression while the others show increased expression, suggesting complex local regulation.
What is an eQTL?
An eQTL (expression quantitative trait locus) is a genetic variant statistically associated with differences in how much a gene is expressed in a given tissue. eQTL data like that for rs11968721 helps researchers identify which genes a variant may regulate, but does not by itself indicate disease risk.