rs10491118 (CCL15-CCL14): Chemokine Expression QTL
Key takeaways
- rs10491118 sits in the CCL15-CCL14 chemokine gene cluster and influences expression of at least three nearby genes across nerve and fat tissues.
- The alternate allele increases CCL23 expression while simultaneously reducing CCL16 and CCL14 expression in the same tissues, pointing to a complex regulatory role.
- Evidence comes from GTEx v11 eQTL analysis in 953 donors, with p-values reaching as low as 7.9e-41, indicating statistically robust expression effects.
- No genome-wide association study data linking this variant to a disease outcome is present in the available materials.
Key takeaways
- rs10491118 sits in the CCL15-CCL14 chemokine gene cluster and influences expression of at least three nearby genes across nerve and fat tissues.
- The alternate allele increases CCL23 expression while simultaneously reducing CCL16 and CCL14 expression in the same tissues, pointing to a complex regulatory role.
- Evidence comes from GTEx v11 eQTL analysis in 953 donors, with p-values reaching as low as 7.9e-41, indicating statistically robust expression effects.
- No genome-wide association study data linking this variant to a disease outcome is present in the available materials.
What the research says rs10491118 has been characterized as a cis-eQTL (a variant that influences expression of genes in its immediate genomic neighborhood) for three chemokine genes in the CCL cluster. GTEx v11 data from 953 donors shows the alternate allele increases CCL23 expression in tibial nerve, skeletal muscle, esophageal muscularis, and subcutaneous fat tissue, with p-values reaching 7.9e-41 in tibial nerve GTEx Portal. Concurrently, the same allele reduces CCL16 expression in tibial nerve and subcutaneous fat, and reduces CCL14 expression in visceral omental fat and tibial nerve, demonstrating opposing regulatory effects on different genes within the same genomic cluster GTEx Portal.
Reported associations
- CCL23 expression (increased): The alternate allele is associated with higher CCL23 expression in tibial nerve (p=7.9e-41), skeletal muscle (p=9.4e-30), esophageal muscularis (p=1.6e-21), and subcutaneous fat (p=2.5e-28) GTEx Portal.
- CCL16 expression (decreased): The alternate allele is associated with lower CCL16 expression in tibial nerve (p=6.0e-25) and subcutaneous fat (p=1.0e-23) GTEx Portal.
- CCL14 expression (decreased): The alternate allele is associated with lower CCL14 expression in visceral omental fat (p=8.2e-22) and tibial nerve (p=2.2e-24) GTEx Portal.
Evidence quality All documented associations for rs10491118 are eQTL findings from GTEx v11, derived from 953 donors with a false discovery rate threshold below 0.05 GTEx Portal. P-values for these expression associations are extremely small (reaching as low as 7.9e-41), indicating strong statistical confidence that this variant influences gene expression levels. However, an eQTL association shows a correlation between a genetic variant and nearby gene expression; it does not by itself demonstrate causation or a direct connection to any disease or health outcome. No genome-wide association study data linking rs10491118 to a disease phenotype is present in the provided materials, so evidence for this variant is limited to expression-level mechanistic observations, and any disease relevance remains to be established by future research.
Tissue-specific expression effects
- CCL23: Increased expression in tibial nerve, skeletal muscle, esophageal muscularis, and subcutaneous fat, with the strongest increase observed in tibial nerve GTEx Portal.
- CCL16: Reduced expression in tibial nerve and subcutaneous fat GTEx Portal.
- CCL14: Reduced expression in visceral omental fat and tibial nerve GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs10491118 do?
rs10491118 is a genetic variant that changes how strongly three chemokine genes (CCL23, CCL16, and CCL14) are expressed in certain tissues. The alternate allele increases CCL23 expression while decreasing CCL16 and CCL14 expression, particularly in nerve and fat tissues.
What genes are near rs10491118?
rs10491118 sits near the CCL15-CCL14 chemokine gene cluster. GTEx eQTL data shows it influences expression of CCL23, CCL16, and CCL14 in multiple tissues including tibial nerve, skeletal muscle, esophageal muscularis, and adipose tissue.
Is rs10491118 linked to any disease?
Based on available materials, rs10491118 has only been characterized through gene expression data. No genome-wide association study linking this variant to a specific disease outcome is currently documented in the available evidence.
What is an eQTL and why does it matter for rs10491118?
An eQTL (expression quantitative trait locus) is a genetic variant that correlates with the expression level of one or more nearby genes. For rs10491118, this means the variant is statistically associated with how much CCL23, CCL16, and CCL14 are produced in certain tissues, though this does not automatically imply any specific health consequence.