Expressive

rs11021232 (FAM76B / LNCRNA-IUR): Gene Expression Variant

Key takeaways

  • rs11021232 sits near FAM76B and a long non-coding RNA, making it a gene-regulation variant rather than a protein-altering one
  • The alternative allele strongly increases expression of a nearby gene in whole blood tissue
  • A secondary signal links this variant to modestly increased SESN3 (Sestrin-3) expression in cultured fibroblasts
  • No specific disease or trait associations with confirmed effect sizes are documented in the available research for this variant
  • Evidence is preliminary and based primarily on tissue-specific eQTL data from GTEx v11

Key takeaways

  • rs11021232 sits in a genomic region containing a long non-coding RNA (lncRNA) and the nearby FAM76B gene, making it a regulatory locus rather than a protein-altering one
  • The alternative allele strongly increases expression of a nearby gene (ENSG00000306211) in whole blood tissue
  • A secondary signal links this variant to modestly increased SESN3 (Sestrin-3) expression in cultured fibroblasts
  • No specific trait or disease associations with confirmed effect sizes are documented in the available research for this locus
  • Evidence is preliminary and rests primarily on tissue-specific gene-expression effects from GTEx v11

What the research says GTEx v11 eQTL data from 953 donors shows that the alternative allele at rs11021232 is strongly associated with increased expression of ENSG00000306211 in whole blood (slope +0.39, p=7.2e-15) and modestly increased SESN3 (Sestrin-3) expression in cultured fibroblasts (slope +0.11, p=1.3e-4) GTEx Portal. Large-scale genome-wide association studies spanning hundreds of thousands of participants have examined this genomic region in the context of circulating metabolites, blood cell counts, sex hormone concentrations, and skin conditions, though specific trait-level association results with effect sizes for this variant are not detailed in the available study texts.

Reported associations

  • Whole blood gene expression (ENSG00000306211): The alternative allele is associated with increased expression in whole blood tissue (slope +0.39, p=7.2e-15) GTEx Portal
  • SESN3 expression in cultured fibroblasts: The alternative allele is associated with modestly increased SESN3 expression in cultured fibroblasts (slope +0.11, p=1.3e-4) GTEx Portal

Evidence quality The eQTL associations are derived from 953 GTEx v11 donors and satisfy FDR < 0.05. The whole-blood signal for ENSG00000306211 is particularly robust (slope +0.39, p=7.2e-15), while the SESN3 effect in fibroblasts is smaller in magnitude (slope +0.11) and sits closer to the significance threshold. Large-scale GWAS studies referenced in context span sample sizes from approximately 4,680 cases in focused disease analyses to more than 628,000 participants in multi-ancestry meta-analyses, but association results specific to rs11021232 are not extractable from the available study texts. No conflicting findings are present within the GTEx data for the two reported eQTL signals. Overall, the evidence base for this locus is preliminary and limited to expression-level effects; replication in trait-level GWAS contexts has not been documented here.

Tissue-specific expression effects

  • ENSG00000306211: The alternative allele is associated with increased expression in whole blood; this is a strong signal (p=7.2e-15) based on 953 donors GTEx Portal
  • SESN3: The alternative allele is associated with modestly increased expression in cultured fibroblasts; the effect size is smaller than the whole-blood signal and the association sits closer to the FDR threshold GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11021232?

rs11021232 is a common genetic variant located near the FAM76B gene and a long non-coding RNA. It is primarily characterized as a regulatory variant that affects nearby gene expression in blood and fibroblast tissue.

What does FAM76B do?

FAM76B (Family With Sequence Similarity 76 Member B) is a protein-coding gene whose function is not yet fully characterized. The rs11021232 variant sits near this gene and may influence its regulatory environment.

Is rs11021232 linked to any diseases?

No specific disease associations with confirmed effect sizes are documented in the currently available research for rs11021232. Large-scale studies covering metabolic, blood, hormonal, and skin traits have analyzed this region, but no trait-level associations for this specific variant are detailed in the literature provided here.

What is an eQTL and why does it matter for rs11021232?

An eQTL (expression quantitative trait locus) is a genetic variant associated with changes in how much a nearby gene is expressed. For rs11021232, GTEx data shows it strongly increases expression of a nearby gene in whole blood, pointing to a possible regulatory role in blood cell biology.

What is SESN3 and how is it related to rs11021232?

SESN3 (Sestrin-3) is a gene involved in cellular stress response. GTEx data shows that the alternative allele of rs11021232 modestly increases SESN3 expression in cultured fibroblasts, pointing to a possible regulatory connection between this variant and stress-response biology in skin-derived cells.