rs111640994 (CD48-SLAMF7): ITLN1 kidney eQTL
Key takeaways
- rs111640994 sits in the CD48-SLAMF7 gene region and acts as an eQTL, meaning it influences how much ITLN1 is expressed in kidney cortex tissue
- GTEx data from 953 donors links this variant to increased ITLN1 expression in kidney cortex (p=1.1e-5)
- The kidney cortex expression effect is the only association documented for this variant in the provided materials
- No disease or trait associations for this variant are documented in the provided study literature
Key takeaways
- rs111640994 sits in the CD48-SLAMF7 gene region and acts as an eQTL, meaning it influences how much ITLN1 is expressed in kidney cortex tissue
- GTEx data from 953 donors links this variant to increased ITLN1 expression in kidney cortex (p=1.1e-5)
- The effect is specific to kidney cortex tissue based on the available GTEx data
- No disease or trait associations for this variant are documented in the provided study literature
What the research says rs111640994 sits in the CD48-SLAMF7 gene region and has been identified as an expression quantitative trait locus (eQTL) - a variant that influences how much a nearby gene is expressed in a given tissue. GTEx analysis (953 donors, FDR<0.05 threshold) found that carriers of the alternate allele show increased ITLN1 expression in kidney cortex tissue (slope +3.60, p=1.1e-5) GTEx Portal. No specific trait or disease associations for this locus were reported in the provided GWAS literature, which included a large-scale analysis of approximately 405,000 UK Biobank participants across 79 quantitative and 50 binary traits.
Reported associations
- ITLN1 expression in kidney cortex: The alternate allele is associated with increased ITLN1 gene expression in kidney cortex tissue (slope +3.60, p=1.1e-5) GTEx Portal
Evidence quality The evidence for rs111640994 is limited to a single tissue-specific eQTL observation from GTEx (953 donors, p=1.1e-5). This association meets a stringent FDR threshold but has not been replicated in independent cohorts in the provided materials. A large-scale GWAS study analyzing approximately 405,000 UK Biobank participants across 79 quantitative and 50 binary traits did not report specific associations at this locus in the available text. The evidence should be considered preliminary: eQTL data documents a relationship between genotype and gene expression level but does not on its own link a variant to a specific disease or clinical outcome.
Tissue-specific expression effects
- ITLN1: Increased expression in kidney cortex tissue in carriers of the alternate allele GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs111640994?
rs111640994 is a single-nucleotide polymorphism (SNP) located in the CD48-SLAMF7 gene region. It acts as an eQTL, meaning it is associated with differences in how much the ITLN1 gene is expressed in kidney cortex tissue.
What does rs111640994 do to gene expression?
GTEx data from 953 donors shows that the alternate allele of rs111640994 is linked to increased ITLN1 expression in kidney cortex tissue, with a p-value of 1.1e-5. This effect is specific to kidney cortex in the available data.
Is rs111640994 linked to any diseases?
No disease or trait associations for rs111640994 are documented in the provided study literature. The available evidence is limited to its effect on ITLN1 gene expression in kidney cortex tissue.
What is an eQTL and why does it matter?
An eQTL (expression quantitative trait locus) is a genetic variant associated with differences in how much a gene is expressed in a particular tissue. rs111640994 is an eQTL for ITLN1 in kidney cortex, meaning it influences ITLN1 gene activity there, though this does not on its own establish a link to disease.
What genes are near rs111640994?
rs111640994 is located in the CD48-SLAMF7 gene region. The GTEx data also identifies ITLN1 as a gene whose expression in kidney cortex tissue is influenced by this variant.