Expressive

rs10409076 (CEACAM22P): Gene Expression Variant

Key takeaways

  • rs10409076 sits near CEACAM22P, a pseudogene, and is linked to higher expression of three nearby genes in spleen and blood tissue
  • In spleen, carriers of the alternative allele show increased CEACAM22P expression
  • In whole blood, the alternative allele is linked to higher expression of both PVR and CEACAM19
  • All three gene expression effects met the FDR<0.05 significance threshold in GTEx data from 953 donors
  • No disease or clinical trait associations are reported in the available studies - evidence is limited to tissue-level gene expression

Key takeaways

  • rs10409076 sits near CEACAM22P, a pseudogene (a non-protein-coding DNA sequence that resembles a functional gene), and is linked to higher expression of three nearby genes in spleen and blood tissue
  • In spleen, carriers of the alternative allele show increased CEACAM22P expression
  • In whole blood, the alternative allele is linked to higher expression of both PVR and CEACAM19
  • All three gene expression effects met the FDR<0.05 significance threshold in GTEx data from 953 donors
  • No disease or clinical trait associations are reported in the available studies - evidence is limited to tissue-level gene expression

What the research says GTEx v11 eQTL (expression quantitative trait locus - a statistical test linking a genetic variant to differences in gene expression) analysis of 953 donors identified rs10409076 as significantly associated with increased expression of CEACAM22P in spleen (slope +0.48, p=1.9e-6), PVR in whole blood (slope +0.18, p=1.8e-7), and CEACAM19 in whole blood (slope +0.17, p=5.7e-5), all meeting the study-level FDR<0.05 threshold GTEx Portal. Available studies do not report trait-specific GWAS associations or clinical annotations for this variant.

Reported associations

  • CEACAM22P expression (spleen): the alternative allele is associated with increased expression of this pseudogene in spleen tissue, with an effect size of +0.48 (log2-normalized expression slope per copy of the alternative allele, p=1.9e-6) GTEx Portal
  • PVR expression (whole blood): the alternative allele is associated with increased PVR expression in whole blood, with an effect size of +0.18 (slope, p=1.8e-7) GTEx Portal
  • CEACAM19 expression (whole blood): the alternative allele is associated with increased CEACAM19 expression in whole blood, with an effect size of +0.17 (slope, p=5.7e-5) GTEx Portal

Evidence quality All reported associations for rs10409076 come from GTEx v11 eQTL analysis (953 donors), with p-values of 1.9e-6, 1.8e-7, and 5.7e-5 for the three gene expression effects, each meeting the FDR<0.05 threshold GTEx Portal. These are tissue-level gene expression associations, not disease or clinical outcome findings, and no independent replication data are cited in the available studies. No GWAS trait associations, ClinVar pathogenicity ratings, or PharmGKB drug-response annotations are available from the provided materials. The evidence is preliminary and limited to eQTL findings from a single dataset.

Tissue-specific expression effects

  • CEACAM22P: increased expression in spleen tissue with the alternative allele GTEx Portal
  • PVR: increased expression in whole blood with the alternative allele GTEx Portal
  • CEACAM19: increased expression in whole blood with the alternative allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10409076?

rs10409076 is a genetic variant located near CEACAM22P, a pseudogene. GTEx data from 953 donors links it to increased expression of three nearby genes across spleen and whole blood tissue.

What is CEACAM22P?

CEACAM22P is a pseudogene, meaning it is a non-protein-coding DNA sequence that resembles a functional gene. It is the primary named gene in the region where rs10409076 is located.

Which tissues are affected by rs10409076?

GTEx eQTL data shows rs10409076 is associated with increased expression of CEACAM22P in spleen, and increased expression of PVR and CEACAM19 in whole blood.

Is rs10409076 linked to any diseases?

No disease or clinical trait associations for rs10409076 are reported in the studies currently available for this entry. Evidence is limited to tissue-level gene expression effects.

What is an eQTL and why does it matter here?

An eQTL, or expression quantitative trait locus, is a genetic variant that statistically associates with the expression level of one or more nearby genes. rs10409076 qualifies as an eQTL because it links to measurable differences in the expression of CEACAM22P, PVR, and CEACAM19 in specific tissues.