Expressive

rs1017528 (CUEDC1): EPX expression in skin tissue

Key takeaways

  • The alternate allele at rs1017528 increases expression of the EPX gene in sun-exposed lower leg skin, based on gene expression data from 953 donors in GTEx v11.
  • rs1017528 is located near the CUEDC1 gene and was examined in a genome-wide study of over 635,000 diverse US veterans spanning 2,068 traits.
  • The expression effect is modest and specific to sun-exposed lower leg skin among the tissue types analyzed.
  • No direct disease associations for this variant are detailed in the available study material; the evidence represents a gene expression signal, not a confirmed disease link.

Key takeaways

  • The alternate allele at rs1017528 increases expression of the EPX gene in sun-exposed lower leg skin, based on gene expression data from 953 donors in GTEx v11.
  • rs1017528 is located near the CUEDC1 gene and was examined in a genome-wide study of over 635,000 diverse US veterans spanning 2,068 traits.
  • The expression effect is modest and specific to sun-exposed lower leg skin among the tissue types analyzed.
  • No direct disease associations for this variant are detailed in the available study material; the evidence represents a gene expression signal, not a confirmed disease link.

What the research says The VA Million Veteran Program (MVP) conducted genome-wide association analyses across 2,068 traits in 635,969 participants from genetically diverse backgrounds, including individuals similar to African, Admixed American, East Asian, and European reference populations. Tissue-level gene expression data from GTEx v11 shows that the alternate allele at this locus is linked to increased expression of the EPX gene in sun-exposed lower leg skin (slope +0.16 on a log2-normalized scale, p=1.6e-4, n=953 donors) GTEx Portal.

Reported associations

  • EPX gene expression (sun-exposed lower leg skin): The alternate allele at rs1017528 is associated with increased EPX expression (slope +0.16, log2-normalized; p=1.6e-4) across 953 donors in GTEx v11 GTEx Portal

Evidence quality The eQTL (expression quantitative trait locus, a type of genetic variant linked to changes in nearby gene activity) connection between rs1017528 and EPX expression in sun-exposed lower leg skin is based on GTEx v11 data from 953 donors and clears an FDR (false discovery rate) threshold below 0.05, indicating statistical reliability within that dataset. Broader population context comes from the MVP GWAS (n=635,969, four ancestry groups, 2,068 traits), but specific trait associations for rs1017528 are not enumerated in the available study excerpts. The GTEx result is a tissue-specific expression signal and does not on its own establish a causal connection to any disease. Overall, evidence for clinical significance is preliminary.

Tissue-specific expression effects

  • EPX: Increased expression in sun-exposed lower leg skin tissue GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1017528?

rs1017528 is a genetic variant located near the CUEDC1 gene. It has been examined in large-scale genetic studies including the VA Million Veteran Program, which analyzed over 635,000 participants from diverse backgrounds.

What does rs1017528 do to the EPX gene?

Carrying the alternate allele at rs1017528 is associated with modestly increased expression of the EPX gene specifically in sun-exposed lower leg skin. This was found in GTEx v11 gene expression data from 953 donors.

Is rs1017528 linked to any diseases?

The available research does not establish a direct disease association for rs1017528. The main finding is a tissue-specific effect on gene expression in skin tissue, which is a mechanistic signal rather than a disease diagnosis.

What is an eQTL and why does it matter for rs1017528?

An eQTL (expression quantitative trait locus) is a genetic variant that affects how actively a nearby gene is expressed in specific tissues. rs1017528 acts as an eQTL for the EPX gene in sun-exposed lower leg skin, meaning it influences how much of that gene product is made in that tissue type.