Expressive

rs117854207 (SORBS1): eQTL gene expression variant

Key takeaways

  • rs117854207 is a variant near the SORBS1 gene, with tissue-specific gene expression data from GTEx v11 across 953 donors.
  • The alternate allele is linked to increased TCTN3 gene expression in esophagus muscle tissue and whole blood.
  • The same allele is also linked to increased ALDH18A1 gene expression in aortic tissue.
  • These are eQTL effects, meaning the variant influences how much of a gene is produced in specific tissues, not its protein structure.
  • Specific disease or phenotypic trait associations for this variant are not detailed in the available study data.

Key takeaways

  • rs117854207 is a variant near the SORBS1 gene, with tissue-specific gene expression data available from GTEx v11 across 953 donors.
  • The alternate allele is linked to increased TCTN3 gene expression in esophagus muscle tissue and whole blood.
  • The same allele is also linked to increased ALDH18A1 gene expression in aortic tissue.
  • These are eQTL (expression quantitative trait locus) effects, meaning the variant influences how much of a gene is produced in specific tissues, not its protein structure.
  • Specific disease or phenotypic trait associations for this variant are not detailed in the available study data.

What the research says This variant near SORBS1 has been examined alongside large-scale genome-wide association analysis of approximately 405,000 UK Biobank individuals across 79 quantitative and 50 binary traits. Tissue-specific expression data from GTEx v11 (953 donors, cis-eQTL analysis, FDR < 0.05) shows that the alternate allele at this locus is associated with increased TCTN3 expression in esophagus muscularis (slope +0.56, p=7.7e-6) and whole blood (slope +0.40, p=5.8e-5), and increased ALDH18A1 expression in aortic tissue (slope +0.37, p=2.7e-5) GTEx Portal. Specific phenotypic associations for this variant are not reported in the available study text.

Reported associations

  • TCTN3 expression (esophagus muscularis): The alternate allele is associated with increased TCTN3 gene expression (slope +0.56, p=7.7e-6) GTEx Portal
  • TCTN3 expression (whole blood): The alternate allele is associated with increased TCTN3 gene expression (slope +0.40, p=5.8e-5) GTEx Portal
  • ALDH18A1 expression (artery aorta): The alternate allele is associated with increased ALDH18A1 gene expression (slope +0.37, p=2.7e-5) GTEx Portal

Evidence quality All three reported associations are cis-eQTL signals from GTEx v11, based on 953 donors, all meeting FDR < 0.05 GTEx Portal. The reported p-values of 7.7e-6, 5.8e-5, and 2.7e-5 are consistent with the FDR threshold reported in the GTEx data. The broader GWAS context in the provided literature involves approximately 405,000 UK Biobank individuals, but specific phenotypic findings for this variant are not reported in the available study text. No independent replication of these eQTL associations is documented in the provided sources, and the evidence should be regarded as preliminary.

Tissue-specific expression effects

  • TCTN3: Increased expression in esophagus muscularis and whole blood in carriers of the alternate allele GTEx Portal
  • ALDH18A1: Increased expression in aortic tissue in carriers of the alternate allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117854207?

rs117854207 is a genetic variant located near the SORBS1 gene. Available data shows it affects gene expression levels in specific tissues based on GTEx eQTL analysis of 953 donors.

What gene expression effects does rs117854207 have?

The alternate allele of rs117854207 is associated with higher TCTN3 expression in esophagus muscle tissue and whole blood, and higher ALDH18A1 expression in aortic tissue, based on GTEx v11 data. All three signals passed FDR < 0.05 in cis-window analysis.

What is an eQTL and why does it matter for rs117854207?

An eQTL, or expression quantitative trait locus, is a genetic variant that influences how much of a specific gene is produced in a given tissue. For rs117854207, GTEx data identifies it as an eQTL for two genes across three tissue types, meaning it may play a regulatory role rather than directly altering a protein.

Is rs117854207 linked to any diseases or health conditions?

Specific disease or phenotypic associations for rs117854207 are not described in the study data currently on file for this variant. The available evidence is limited to tissue-specific gene expression effects from GTEx.

What is the SORBS1 gene?

SORBS1 is the gene nearest to the rs117854207 variant. The study materials provided for this entry do not detail the specific biological functions of SORBS1 in relation to this variant.