Expressive

rs1045485 (CASP8): Tissue Expression Effects

Key takeaways

  • The ALT allele of rs1045485 reduces expression of ENSG00000289698 across seven tissues, most strongly in brain cerebellum.
  • A second nearby gene, FLACC1, also shows reduced expression in brain cerebellum with the ALT allele.
  • No clinical disease or trait associations for this variant are documented in the provided studies.
  • All current evidence comes from GTEx eQTL data (953 donors) and should be considered preliminary.
  • Affected tissues span multiple brain regions, prostate, aorta, and skin.

Key takeaways

  • The ALT allele of rs1045485 reduces expression of ENSG00000289698 across seven tissues, most strongly in brain cerebellum.
  • A second nearby gene, FLACC1, also shows reduced expression in brain cerebellum with the ALT allele.
  • Affected tissues include multiple brain regions, prostate, artery aorta, and skin.
  • No clinical disease or trait associations for this variant are documented in the provided studies.
  • Current evidence is limited to GTEx eQTL data (953 donors) and should be considered preliminary.

What the research says rs1045485 is a variant in the CASP8 gene region. GTEx v11 eQTL data (953 donors, cis-window, FDR < 0.05) show that the ALT allele reduces expression of ENSG00000289698 in seven tissues, with the strongest effect in brain cerebellum (slope -0.71, p = 1.2e-8) GTEx Portal. A second gene at this locus, FLACC1, also shows reduced expression in brain cerebellum (slope -0.59, p = 5.2e-6) with the ALT allele GTEx Portal.

Reported associations

  • ENSG00000289698 expression: The ALT allele reduces expression across seven tissues, with the strongest effect in brain cerebellum (slope -0.71, p = 1.2e-8) and additional effects in brain cerebellar hemisphere (slope -0.61), prostate (slope -0.59), brain cortex (slope -0.58), artery aorta (slope -0.47), and skin (slopes -0.46 and -0.43) GTEx Portal
  • FLACC1 expression: The ALT allele reduces expression in brain cerebellum (slope -0.59, p = 5.2e-6) GTEx Portal

Evidence quality All available evidence for rs1045485 comes from GTEx v11 eQTL analysis (953 donors, cis-window, FDR < 0.05), with p-values for ENSG00000289698 ranging from 1.2e-8 in brain cerebellum to 3.2e-5 in brain cortex across the reported tissues GTEx Portal. No GWAS associations with clinical traits or disease endpoints are reported in the provided studies. A large-scale proteogenomic study using UK Biobank Olink data (over 54,000 samples, 1,463 proteins) is among the provided literature but does not report specific findings for rs1045485. The evidence base is preliminary and limited to expression-level effects, with no replication data available in the provided materials.

Tissue-specific expression effects

  • ENSG00000289698: The ALT allele is associated with reduced expression in brain cerebellum, brain cerebellar hemisphere, brain cortex, prostate, artery aorta, sun-exposed lower leg skin, and non-sun-exposed suprapubic skin GTEx Portal
  • FLACC1: The ALT allele is associated with reduced expression in brain cerebellum GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1045485?

rs1045485 is a single nucleotide polymorphism (a single-letter DNA change) located in the CASP8 gene region. Its ALT allele is associated with reduced expression of nearby genes in multiple tissues based on GTEx eQTL data from 953 donors.

Which tissues are affected by the rs1045485 ALT allele?

According to GTEx eQTL data, the ALT allele reduces expression of ENSG00000289698 in brain cerebellum, brain cerebellar hemisphere, brain cortex, prostate, artery aorta, and two skin tissue types. FLACC1 expression is also reduced in brain cerebellum.

Is rs1045485 linked to any disease?

No disease or clinical trait associations for rs1045485 are documented in the provided studies. The available evidence is limited to tissue-level gene expression changes from GTEx eQTL data.

What is an eQTL and what does it tell us about rs1045485?

An eQTL (expression quantitative trait locus) is a genetic variant associated with differences in how much of a gene is produced in a specific tissue. For rs1045485, the eQTL data shows the ALT allele is linked to lower gene output in several tissues, but this does not by itself establish any connection to a disease or health outcome.

What is FLACC1 and why is it mentioned with rs1045485?

FLACC1 is a gene whose expression in brain cerebellum is reduced when the ALT allele of rs1045485 is present, based on GTEx eQTL data. No further functional information about FLACC1 in relation to this variant is provided in the available studies.