Expressive

rs116383540 (CLIC5/ENPP4): Skin eQTL Variant

Key takeaways

  • rs116383540 sits near two genes: CLIC5 and ENPP4.
  • The only documented molecular effect is increased ENPP4 gene activity in sun-exposed lower leg skin.
  • Evidence is preliminary: the available sources do not report trait-level health associations for this locus.
  • No lifestyle considerations have been established from the provided research.

Key takeaways

  • rs116383540 sits near two genes: CLIC5 and ENPP4.
  • The only documented molecular effect in the provided data is increased ENPP4 gene activity in sun-exposed lower leg skin.
  • Evidence is preliminary: the available sources do not report trait-level health associations for this locus.
  • No lifestyle considerations have been established from the provided research.

What the research says rs116383540 lies at the CLIC5 - ENPP4 locus. At the molecular level, GTEx v11 data (953 donors) show that the ALT allele is associated with increased expression of ENPP4 (meaning higher activity of that gene in cells) specifically in sun-exposed lower leg skin tissue (p=8.9e-5) GTEx Portal. A large-scale genome-wide association study using the Quickdraws method was applied to 405,088 UK Biobank individuals across 79 quantitative and 50 binary traits; variant-level association results for this specific locus are not detailed in the available study text.

Reported associations

  • ENPP4 gene expression, sun-exposed lower leg skin (eQTL, a variant affecting nearby gene activity): The ALT allele is associated with increased ENPP4 expression (slope +0.28, p=8.9e-5) GTEx Portal.

Evidence quality The sole molecular evidence for rs116383540 in the provided sources is a single cis-eQTL (a variant influencing a nearby gene's activity within a local genomic window) signal from GTEx v11 (953 donors, FDR<0.05), observed in one tissue only. A Quickdraws GWAS analysis covered 13.3 million variants across 405,088 UK Biobank samples for multiple traits, but specific association results for this locus are not available in the provided text. No trait-level effect sizes, independent replication, or multi-cohort confirmation are available from these sources. The overall evidence base is preliminary and limited in scope.

Tissue-specific expression effects

  • ENPP4: The ALT allele is associated with increased expression in sun-exposed lower leg skin; no other tissues reached the reporting threshold in the available GTEx data GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs116383540 do?

Based on available data, rs116383540 is associated with increased activity of the ENPP4 gene in sun-exposed lower leg skin. No health or disease associations have been confirmed in the provided research.

What genes are near rs116383540?

rs116383540 is located near two genes: CLIC5 and ENPP4. Research shows the variant affects the expression level of ENPP4 specifically in sun-exposed skin tissue.

Is rs116383540 linked to any health conditions?

The available research does not report any confirmed health or trait associations for rs116383540. The only documented effect is a change in ENPP4 gene expression levels in one skin tissue type.

What is an eQTL and why does it matter for this variant?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed in cells. For rs116383540, the eQTL signal means the variant affects how actively ENPP4 is expressed in sun-exposed skin, which may be a clue to gene regulation but does not by itself establish a health outcome.

How strong is the evidence for rs116383540?

Evidence is preliminary. The only direct source data available is a tissue-level gene expression signal in one skin tissue type from GTEx v11. No confirmed trait or disease associations are reported in the provided studies.