rs116063149 (CLPS): Pancreatic CLPSL1 eQTL Variant
Key takeaways
- The ALT allele of rs116063149 increases CLPSL1 expression specifically in pancreatic tissue
- This eQTL signal (slope +0.86, p=6.1e-5, FDR<0.05) was identified across 953 donors in GTEx v11
- rs116063149 sits in the CLPS gene region, with documented effects specific to pancreatic tissue
- Direct clinical or disease associations for this variant are not established in the available evidence
Key takeaways
- The ALT allele of rs116063149 increases CLPSL1 expression specifically in pancreatic tissue
- This eQTL signal (slope +0.86, p=6.1e-5, FDR<0.05) was identified across 953 donors in GTEx v11
- rs116063149 sits in the CLPS (colipase) gene region, with documented effects specific to pancreatic tissue in available data
- Direct clinical or disease associations for this variant are not established in the provided study excerpts
What the research says rs116063149 sits in the CLPS (colipase) gene region. The ALT allele is associated with increased expression of CLPSL1 (colipase-like 1) in pancreatic tissue (eQTL slope +0.86, p=6.1e-5, FDR<0.05, n=953 donors) GTEx Portal. Large-scale serum protein studies have mapped genetic associations across thousands of circulating proteins, providing a framework in which variants at this locus are analyzed in the context of proteomic and phenotypic outcomes.
Reported associations
- CLPSL1 expression in pancreatic tissue: The ALT allele is linked to increased expression (slope +0.86, p=6.1e-5, FDR<0.05) across 953 donors GTEx Portal
Evidence quality The primary available evidence is an eQTL association from GTEx v11, based on 953 donors and reaching FDR<0.05 in pancreatic tissue (p=6.1e-5) GTEx Portal. Two large proteogenomic studies (one in 5,368 individuals covering 2,091 serum proteins, and another in 10,708 individuals covering 3,892 plasma proteins) have characterized genetic regulation of circulating proteins broadly, but specific replication data or phenotypic effect sizes for this locus are not available in the provided excerpts. A GWAS analysis applied to approximately 405,000 UK Biobank participants across 79 quantitative and 50 binary traits provides large-scale context for association discovery in this region. Overall, evidence for this variant is preliminary and limited to tissue-level expression data.
Tissue-specific expression effects
- CLPSL1: Increased expression in pancreatic tissue with the ALT allele GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs116063149 do?
The ALT allele of rs116063149 increases expression of CLPSL1 (colipase-like 1) in pancreatic tissue. This tissue-specific expression effect was identified in GTEx eQTL data across 953 donors, with a slope of +0.86 and p=6.1e-5.
Which gene is rs116063149 in?
rs116063149 is located in the CLPS (colipase) gene region. eQTL data shows its ALT allele affects expression of the closely related CLPSL1 gene, with effects observed specifically in the pancreas.
Is rs116063149 linked to any disease?
The available evidence does not establish a direct disease association for rs116063149. The variant shows a tissue-specific expression effect in pancreatic tissue, and large-scale protein studies have mapped genetic associations in this genomic region, but specific clinical findings for this variant were not reported in the provided study excerpts.
What is an eQTL and why does it matter for rs116063149?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much of a gene is produced in a given tissue. rs116063149 is an eQTL for CLPSL1 in the pancreas, meaning people carrying the ALT allele tend to produce more CLPSL1 in pancreatic tissue.
How reliable is the evidence for rs116063149?
The eQTL evidence comes from GTEx v11 with 953 donors and reaches FDR below 5% in pancreatic tissue. This is a statistically sound expression association, though broader clinical or disease-level replication has not been documented in the available studies.