Expressive

rs115183717 (LINC02363): ENPP6 uterine eQTL

Key takeaways

  • rs115183717 is located within LINC02363, a long intergenic non-coding RNA locus with no protein-coding product
  • The variant is linked to increased ENPP6 expression specifically in uterine tissue, based on GTEx v11 data from 953 donors
  • No disease or trait associations for this variant are established in the current study evidence
  • Evidence is limited to a single tissue-specific gene expression finding and should be considered preliminary
  • The GWAS methodology covering 405,000 UK Biobank samples does not explicitly report findings for this specific variant

Key takeaways

  • rs115183717 is located within LINC02363, a long intergenic non-coding RNA (lincRNA) locus with no protein-coding product
  • The variant is linked to increased ENPP6 expression specifically in uterine tissue, based on GTEx v11 data from 953 donors
  • No disease or trait associations for this variant are established in the current study evidence
  • Evidence is limited to a single tissue-specific gene expression finding and should be considered preliminary
  • The GWAS methodology covering approximately 405,000 UK Biobank samples does not explicitly report findings for this specific variant

What the research says GTEx v11 expression data from 953 donors shows that the alternate allele at rs115183717 is associated with increased ENPP6 expression in uterine tissue (slope +2.62, p=2.8e-6, FDR<0.05) GTEx Portal. A GWAS methodology paper describing Quickdraws was applied to 79 quantitative and 50 binary traits across 405,088 UK Biobank samples, identifying 4.97% more quantitative and 3.25% more binary trait associations than REGENIE, but the provided study text does not specifically report an association for rs115183717. Evidence specific to this variant is therefore currently limited to the tissue expression finding.

Reported associations

  • ENPP6 uterine expression (eQTL): The alternate allele is linked to increased ENPP6 gene expression in uterine tissue based on GTEx v11 cis-eQTL analysis (953 donors, slope +2.62, p=2.8e-6, FDR<0.05) GTEx Portal

Evidence quality Direct evidence for rs115183717 is limited to a single tissue-specific eQTL (expression quantitative trait locus) signal in uterine tissue from GTEx v11 (953 donors, p=2.8e-6, FDR<0.05) GTEx Portal. An eQTL indicates the variant influences how much a gene is expressed, not the gene sequence itself. No phenotypic association has been described in the provided studies. The Quickdraws GWAS methods paper covered 13.3 million variants in 405,088 UK Biobank individuals but does not specifically discuss this locus in the provided text. No replication data for the eQTL signal is available in the provided evidence. The evidence base for this variant should be considered preliminary.

Tissue-specific expression effects

  • ENPP6: increased expression in uterine tissue; the alternate allele shows a strong positive effect on ENPP6 transcript levels in this tissue (slope +2.62, p=2.8e-6) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs115183717?

rs115183717 is a genetic variant located within LINC02363, a long intergenic non-coding RNA gene. Based on GTEx data, the variant is associated with increased ENPP6 gene expression in uterine tissue.

What does LINC02363 do?

LINC02363 is a long intergenic non-coding RNA (lincRNA) gene, meaning it does not encode a conventional protein. No specific biological function for LINC02363 is described in the currently available evidence.

How does rs115183717 affect ENPP6 expression?

GTEx v11 data from 953 donors shows that the alternate allele of rs115183717 is associated with increased ENPP6 expression specifically in uterine tissue (slope +2.62, p=2.8e-6). This is an eQTL effect, meaning the variant influences expression levels rather than the gene sequence itself.

Is rs115183717 linked to any diseases?

No disease or phenotypic trait associations for rs115183717 are established in the current evidence. Available data is limited to a tissue-specific gene expression effect in uterine tissue.