Expressive

rs11765886 (AUTS2): CT66 Brain and Nerve Expression

Key takeaways

  • rs11765886 reduces CT66 gene activity in brain and nerve tissue
  • The reduction is seen in two independent tissue types, suggesting a consistent regulatory effect
  • Gene expression effects do not directly predict disease risk or health outcomes
  • Evidence is currently limited to eQTL data from 953 donors in GTEx v11

Key takeaways

  • rs11765886 reduces CT66 gene activity in brain and nerve tissue
  • The reduction is seen in two independent tissue types, suggesting a consistent regulatory effect
  • Gene expression effects do not directly predict disease risk or health outcomes
  • Evidence is currently limited to eQTL data from 953 donors in GTEx v11

What the research says rs11765886, located in the AUTS2 locus, acts as an expression quantitative trait locus (eQTL) - a variant that statistically predicts how active a nearby gene is. The alternative allele at this position is associated with reduced expression of CT66 in brain cerebellum tissue (effect slope -0.31, p=7.9e-5) and tibial nerve tissue (slope -0.15, p=8.8e-5), based on cis-window analysis (cis meaning the variant and gene are in close chromosomal proximity) across 953 donors GTEx Portal. The consistent direction of effect - reduced CT66 activity in both tissues - provides corroborating support for a genuine regulatory relationship, though what altered CT66 levels mean for physiology or health has not been established in the available study materials GTEx Portal.

Reported associations

  • CT66 expression, brain cerebellum: The alternative allele is associated with reduced CT66 expression (slope -0.31, p=7.9e-5, FDR<0.05) in brain cerebellum tissue GTEx Portal
  • CT66 expression, tibial nerve: The alternative allele is associated with reduced CT66 expression (slope -0.15, p=8.8e-5, FDR<0.05) in tibial nerve tissue GTEx Portal

Evidence quality All available evidence for rs11765886 comes from GTEx v11 eQTL analysis (953 donors, cis-window, FDR<0.05, meaning the false discovery rate - the expected proportion of false positives among significant results - is below 5%). Both tissue associations show the same direction of effect (reduced CT66 expression), adding internal consistency. Effect sizes are modest by eQTL standards (slope -0.31 in brain cerebellum and -0.15 in tibial nerve, where slope represents the change in log2-normalized gene expression per copy of the alternative allele). No genome-wide association study (GWAS) linking this specific variant to a health trait or clinical outcome was present in the provided study materials, and no replication data can therefore be cited. The overall evidence base is preliminary and confined to expression-level mechanism GTEx Portal.

Tissue-specific expression effects

  • CT66: Reduced expression in brain cerebellum and tibial nerve tissues; the alternative allele lowers CT66 RNA levels in both regions, with a stronger effect in brain cerebellum (slope -0.31) than tibial nerve (slope -0.15) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs11765886 do?

rs11765886 is linked to lower activity of a gene called CT66 in brain cerebellum and tibial nerve tissue. Carriers of the alternative allele produce less CT66 RNA in those tissues, though what that means for health has not been established in current research.

What is the AUTS2 gene?

AUTS2 is the gene region where rs11765886 is located. The documented expression effects of this variant specifically affect CT66, a nearby gene, in brain and nerve tissue.

Is rs11765886 linked to any diseases?

Based on the available study materials, rs11765886 has not been directly linked to specific diseases. The evidence shows it lowers CT66 expression in brain and nerve tissue, but gene expression changes alone do not establish disease risk.

What is an eQTL and why does it matter for this variant?

An eQTL (expression quantitative trait locus) is a genetic variant that predicts how much RNA a nearby gene produces. For rs11765886, the variant predicts lower CT66 RNA in brain and nerve tissues, which is a clue about how it might influence biology, but more research is needed to link this to any health outcome.

In which tissues does rs11765886 affect gene expression?

Based on GTEx data from 953 donors, rs11765886 is associated with reduced CT66 expression in brain cerebellum and tibial nerve tissue. The effect is stronger in brain cerebellum than in tibial nerve.