Expressive

rs117051668 (ZNF267): eQTL Gene Expression Effects

Key takeaways

  • This variant influences how actively nearby genes are read in specific tissues, rather than changing protein structure.
  • The alternate allele is linked to reduced TP53TG3D gene activity in artery and thyroid tissue.
  • The alternate allele is also linked to reduced RUSF1 gene activity in the brain hypothalamus.
  • Evidence is limited to tissue-level gene expression data with no clinical trait associations reported in available study materials.

Key takeaways

  • This variant acts as an expression quantitative trait locus (eQTL), meaning it is associated with changes in how actively nearby genes are read in certain tissues, not with protein structure changes.
  • The alternate allele is linked to reduced expression of TP53TG3D in artery and thyroid tissue.
  • The alternate allele is also linked to reduced expression of RUSF1 in the brain hypothalamus.
  • Evidence for this variant is currently limited to tissue-level gene expression data; no clinical trait associations are reported in the provided study materials.

What the research says Tissue-level eQTL (expression quantitative trait locus) data from GTEx v11, drawn from 953 donors and tested at a false discovery rate below 0.05, shows that rs117051668 is associated with lower activity of TP53TG3D in artery aorta (log2-normalized slope -0.82, p=3.7e-4) and thyroid (log2-normalized slope -0.64, p=2.5e-4), and lower activity of RUSF1 in the brain hypothalamus (log2-normalized slope -0.34, p=5.0e-5) GTEx Portal. A large-scale UK Biobank genome-wide association study of approximately 405,088 individuals using the Quickdraws Bayesian mixed-model method, which applied a spike-and-slab prior and stochastic variational inference across 79 quantitative and 50 binary traits, provided the computational framework within which association signals at this locus were analyzed, though specific clinical effect sizes for this variant are not detailed in the available study text.

Reported associations

  • TP53TG3D expression, artery aorta: Alternate allele associated with reduced expression (log2-normalized slope -0.82, p=3.7e-4) GTEx Portal
  • TP53TG3D expression, thyroid: Alternate allele associated with reduced expression (log2-normalized slope -0.64, p=2.5e-4) GTEx Portal
  • RUSF1 expression, brain hypothalamus: Alternate allele associated with reduced expression (log2-normalized slope -0.34, p=5.0e-5) GTEx Portal

Evidence quality The GTEx eQTL associations are based on 953 donors with a false discovery rate threshold below 0.05, a standard threshold for expression studies. Effect sizes are moderate to large in log2-normalized units, ranging from -0.34 in brain hypothalamus to -0.82 in artery aorta, indicating a detectable regulatory influence at this locus GTEx Portal. However, eQTL associations reflect gene expression regulation mechanics and not clinical outcomes. No disease-trait associations, independent replication datasets, or p-values for clinical endpoints are reported for this variant in the provided materials. The Quickdraws methods paper (Loya et al., Nature Genetics, 2025) describes a powerful GWAS framework applied to 405,088 UK Biobank individuals but does not name this variant specifically in the available text. Overall, evidence is preliminary and limited to regulatory gene expression data from a single reference panel.

Tissue-specific expression effects

  • TP53TG3D: Reduced expression in artery aorta and thyroid in carriers of the alternate allele; the aorta reduction (slope -0.82) is larger in magnitude than the thyroid reduction (slope -0.64) GTEx Portal
  • RUSF1: Reduced expression in brain hypothalamus in carriers of the alternate allele (slope -0.34) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117051668?

rs117051668 is a genetic variant near the ZNF267 and IGHV1OR16-1 genes. It is classified as an expression quantitative trait locus (eQTL), meaning it is associated with changes in how actively nearby genes are expressed in specific tissues rather than altering protein structure.

What genes does rs117051668 affect?

Based on GTEx v11 data from 953 donors, this variant is associated with reduced expression of TP53TG3D in artery and thyroid tissue, and reduced expression of RUSF1 in the brain hypothalamus. These are regulatory effects on gene activity levels, not structural changes to the encoded proteins.

Is rs117051668 linked to any diseases?

No clinical disease associations are described in the provided study materials. The available evidence is limited to tissue-level gene expression observations from GTEx eQTL data and does not establish links to specific conditions.

What does ZNF267 do?

The study materials provided do not describe the specific biological function of ZNF267 in relation to this variant. ZNF267 is a gene located near rs117051668, but no mechanistic characterization of its role is reported in the available studies.

How strong is the evidence for rs117051668?

The GTEx eQTL evidence is based on 953 donors using a standard false discovery rate threshold (FDR less than 0.05) and shows moderate-to-large effect sizes across three tissue-gene pairs. However, these are gene expression associations only, not clinical disease outcomes, and no independent replication is reported in the available materials, so the evidence should be considered preliminary.