rs116302001 (AHRR): Brain and Muscle eQTL
Key takeaways
- This variant boosts CCDC127 expression across four brain regions, with the strongest effect in the cerebellum
- It also reduces AHRR expression in skeletal muscle
- LRRC14B expression increases in the brain cerebellum and SDHA expression increases in the cerebellum and pancreas
- No health condition associations are described in the provided research materials
- Expression evidence comes from GTEx v11, a study of 953 tissue donors
Key takeaways
- This variant boosts CCDC127 expression across four brain regions, with the strongest effect in the cerebellum
- It also reduces AHRR expression in skeletal muscle
- LRRC14B expression increases in the brain cerebellum and SDHA expression increases in the cerebellum and pancreas
- No health condition associations are described in the provided research materials
- Expression evidence comes from GTEx v11, a study of 953 tissue donors
What the research says GTEx v11 data from 953 donors identifies rs116302001 as a cis-eQTL (a variant influencing the expression of nearby genes) affecting CCDC127, LRRC14B, AHRR, and SDHA across brain, skeletal muscle, and pancreatic tissues, with all associations below a study-wide FDR of 0.05 GTEx Portal. The most statistically significant effect is increased CCDC127 expression in brain cerebellum (p=4.0e-10), with further signals in cerebellar hemisphere (p=1.6e-9), frontal cortex BA9 (p=2.6e-6), and cortex (p=6.2e-5), while AHRR expression is reduced in skeletal muscle (p=5.3e-6) GTEx Portal.
Reported associations
- CCDC127 gene expression (brain): increased expression in brain cerebellum (p=4.0e-10), cerebellar hemisphere (p=1.6e-9), frontal cortex BA9 (p=2.6e-6), and cortex (p=6.2e-5) GTEx Portal
- LRRC14B gene expression (brain): increased expression in brain cerebellum (p=1.8e-7) GTEx Portal
- AHRR gene expression (skeletal muscle): reduced expression in skeletal muscle (p=5.3e-6) GTEx Portal
- SDHA gene expression (brain and pancreas): increased expression in brain cerebellum (p=5.6e-5) and pancreas (p=4.0e-5) GTEx Portal
Evidence quality The gene expression data comes from GTEx v11 (953 donors, cis-window, FDR<0.05), providing a statistically rigorous basis for the eQTL associations described above GTEx Portal. No phenotypic or trait-level associations for rs116302001 are specified in the provided materials; a GWAS methodology study (Quickdraws, n=405,088 UK Biobank participants, 79 quantitative and 50 binary traits) was included among the provided studies but does not report variant-specific findings in the available text. Evidence for health-relevant outcomes is therefore absent from the provided materials. These eQTL associations describe molecular mechanisms, not confirmed clinical or health outcomes, and should be interpreted as preliminary mechanistic evidence only.
Tissue-specific expression effects
- CCDC127: increased expression in brain cerebellum, cerebellar hemisphere, frontal cortex BA9, and cortex, with the strongest effect in the cerebellum GTEx Portal
- LRRC14B: increased expression in brain cerebellum GTEx Portal
- AHRR: reduced expression in skeletal muscle GTEx Portal
- SDHA: increased expression in brain cerebellum and pancreas GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs116302001?
rs116302001 is a genetic variant located near the AHRR gene. GTEx v11 data shows it influences how four nearby genes (CCDC127, LRRC14B, AHRR, and SDHA) are expressed in brain, skeletal muscle, and pancreatic tissue.
What genes does rs116302001 affect?
This variant increases CCDC127 expression across multiple brain regions and LRRC14B in the cerebellum, reduces AHRR expression in skeletal muscle, and increases SDHA expression in the cerebellum and pancreas.
Is rs116302001 linked to any health conditions?
The provided research materials do not describe specific health condition associations for this variant. Available evidence is limited to gene expression effects from the GTEx project.
What is CCDC127 and why does it appear here?
CCDC127 is a gene near rs116302001 whose expression is strongly increased in multiple brain regions by this variant according to GTEx data. What this expression change means for brain function is not described in the provided research.
Where in the genome is rs116302001 located?
rs116302001 is located near the PDCD6 and AHRR genes, placing it in a region that affects the expression of several nearby genes according to GTEx v11 data.