rs115610405 (RTEL1): MHENCR Nerve Expression QTL
Key takeaways
- rs115610405 sits in the RTEL1-TNFRSF6B region and affects gene expression in a tissue-specific way.
- The alternate allele is linked to reduced MHENCR expression in tibial nerve tissue.
- This is an eQTL finding from 953 donors in GTEx v11, not a disease association.
- No GWAS-level disease or trait associations were reported for this variant in the provided sources.
Key takeaways
- rs115610405 sits in the RTEL1-TNFRSF6B region and affects gene expression in a tissue-specific way.
- The alternate allele is linked to reduced MHENCR expression in tibial nerve tissue.
- This is an eQTL finding from 953 donors in GTEx v11, not a disease association.
- No GWAS-level disease or trait associations were reported for this variant in the provided sources.
What the research says The available evidence for rs115610405 consists of a single tissue-specific expression association from GTEx v11 data (953 donors), showing that the alternate allele is linked to reduced expression of the MHENCR gene in tibial nerve tissue GTEx Portal. This type of finding - called an expression quantitative trait locus (eQTL) - indicates that the variant influences how much a nearby gene is produced in a specific tissue, but does not on its own establish a connection to a clinical outcome GTEx Portal. No associations between this locus and specific diseases or quantitative traits were reported in the sources reviewed for this entry.
Reported associations
- MHENCR expression (tibial nerve): The alternate allele is associated with reduced MHENCR expression in tibial nerve tissue (effect slope -0.33, p=3.9e-5, FDR<0.05, 953 donors) GTEx Portal
Evidence quality The sole reported association for rs115610405 is a cis-eQTL (a nearby regulatory effect on gene expression) in tibial nerve tissue from GTEx v11, based on 953 donors and reaching a significance threshold of FDR<0.05 GTEx Portal. No replication across independent cohorts and no GWAS disease associations were documented in the provided sources. Evidence is therefore preliminary and limited to a single expression effect in one tissue type. No conflicting findings were reported.
Tissue-specific expression effects
- MHENCR: Reduced expression in tibial nerve tissue for carriers of the alternate allele; effect slope of -0.33, reaching statistical significance at p=3.9e-5 GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs115610405?
rs115610405 is a genetic variant in the RTEL1-TNFRSF6B, RTEL1 gene region. Current research links it to reduced expression of the MHENCR gene in tibial nerve tissue.
What does rs115610405 do to gene expression?
Based on GTEx v11 data from 953 donors, the alternate allele of rs115610405 is associated with reduced MHENCR expression in tibial nerve tissue. This type of genetic effect on nearby gene expression is called an eQTL, or expression quantitative trait locus.
Is rs115610405 linked to any diseases?
No disease or clinical trait associations for rs115610405 were reported in the sources reviewed for this entry. The available evidence is limited to a gene expression effect in one nerve tissue type.
What is the RTEL1-TNFRSF6B gene region?
RTEL1-TNFRSF6B is the chromosomal region where rs115610405 is located. This entry describes only what the provided research sources report about this specific variant and its expression effects.
What is an eQTL and why does it matter for understanding rs115610405?
An eQTL is a genetic variant that influences how much a nearby gene is expressed in a specific tissue. For rs115610405, the eQTL finding suggests a potential regulatory role in tibial nerve tissue, but this does not directly indicate disease risk.