Expressive

rs11105429 (ATP2B1-AS1): Nerve Expression Variant

Key takeaways

  • The ALT allele of rs11105429 is associated with reduced ATP2B1 expression in tibial nerve tissue, based on GTEx v11 data from 953 donors.
  • This eQTL signal reached statistical significance at p=8.9e-5 with a modest effect size (slope -0.10).
  • Two large genome-wide studies examining cardiovascular, rheumatoid arthritis, and Alzheimer's disease genetics did not specifically identify rs11105429 as a significant locus.
  • Current published evidence for this variant is limited to the tissue-specific expression finding; disease or health associations have not been established in the available research.

Key takeaways

  • The ALT allele of rs11105429 is associated with reduced ATP2B1 expression in tibial nerve tissue, based on GTEx v11 data from 953 donors.
  • This eQTL signal reached statistical significance at p=8.9e-5 with a modest effect size (slope -0.10).
  • Two large genome-wide studies examining cardiovascular, rheumatoid arthritis, and Alzheimer's disease genetics did not specifically identify rs11105429 as a significant locus in their cross-trait analyses.
  • Current published evidence for this variant is limited to the tissue-specific expression finding; disease or health associations have not been established in the available research.

What the research says rs11105429 sits in the ATP2B1-AS1 locus, where GTEx v11 eQTL analysis (953 donors, FDR < 0.05) found that the ALT allele is associated with reduced ATP2B1 expression in tibial nerve tissue (slope -0.10, p=8.9e-5) GTEx Portal. Two large-scale genome-wide studies examining shared genetic architecture between cardiovascular diseases and either rheumatoid arthritis or Alzheimer's disease did not specifically identify rs11105429 as a significant locus in their cross-trait analyses.

Reported associations

  • ATP2B1 expression (tibial nerve): The ALT allele is associated with reduced ATP2B1 expression in tibial nerve tissue (slope -0.10, p=8.9e-5, n=953 donors) GTEx Portal.

Evidence quality The only variant-level evidence for rs11105429 comes from GTEx v11 (953 donors, cis-eQTL analysis, FDR < 0.05), which detected a modest association between this variant and reduced ATP2B1 expression in tibial nerve tissue (slope -0.10, p=8.9e-5) GTEx Portal. This is an expression-level finding; eQTL data identifies a potential mechanistic link to gene regulation but does not establish clinical outcomes or disease associations. No replication of this specific expression signal was identified in the provided literature. Two large-scale genome-wide studies - one examining shared genetics between rheumatoid arthritis and cardiovascular disease in the UK Biobank (up to 452,384 controls), and one mapping shared loci between Alzheimer's disease and cardiovascular traits - did not report findings specific to rs11105429, so no disease-level associations can be drawn from the available evidence.

Tissue-specific expression effects

  • ATP2B1: The ALT allele is associated with reduced expression in tibial nerve tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11105429?

rs11105429 is a genetic variant located in the ATP2B1-AS1 locus, adjacent to the ATP2B1 gene. Based on GTEx v11 data from 953 donors, its ALT allele is linked to reduced expression of ATP2B1 specifically in tibial nerve tissue.

What does the eQTL finding for rs11105429 mean?

An eQTL, or expression quantitative trait locus, is a genetic variant associated with differences in how much a nearby gene is switched on. For rs11105429, GTEx v11 data found that carrying the ALT allele is linked to modestly reduced ATP2B1 gene activity in tibial nerve tissue, suggesting this variant may influence how the gene is regulated in that tissue.

Is rs11105429 linked to heart disease or Alzheimer's disease?

Two large genome-wide studies examining shared genetics between cardiovascular diseases and rheumatoid arthritis or Alzheimer's disease did not specifically report an association with rs11105429. Based on the available evidence, no disease associations for this variant have been established.

Which tissues show an expression effect for rs11105429?

According to GTEx v11 data from 953 donors, a statistically significant eQTL effect is observed in tibial nerve tissue, where the ALT allele is linked to reduced ATP2B1 gene expression.