Expressive

rs115462921 (INTS3): Gene Expression Effects

Key takeaways

  • GTEx v11 eQTL analysis (953 donors) links this variant to altered expression of two nearby genes in different tissues.
  • The alternate allele reduces S100A14 expression in colon transverse tissue.
  • The alternate allele increases SLC39A1 expression in lung tissue.
  • No disease or complex trait associations for this variant are reported in the provided studies.
  • Available evidence is limited to gene-expression effects and should be considered preliminary.

Key takeaways

  • GTEx v11 eQTL analysis (953 donors) links this variant to altered expression of two nearby genes in different tissues.
  • The alternate allele reduces S100A14 expression in colon transverse tissue.
  • The alternate allele increases SLC39A1 expression in lung tissue.
  • No disease or complex trait associations for this variant are reported in the provided studies.
  • Available evidence is limited to gene-expression effects and should be considered preliminary.

What the research says GTEx v11 expression quantitative trait locus (eQTL) analysis, based on data from 953 donors at a false discovery rate threshold of 5%, identifies rs115462921 as a variant influencing the expression of two genes in a tissue-specific manner. GTEx Portal The alternate allele is associated with reduced S100A14 expression in colon transverse tissue (slope -0.36, p=2.1e-7) and increased SLC39A1 expression in lung tissue (slope +0.23, p=1.5e-4). GTEx Portal The provided GWAS literature describes a new association method applied to UK Biobank data across approximately 405,000 individuals and 129 traits, but does not report specific associations for this locus in the available text.

Reported associations

  • S100A14 expression (colon transverse tissue): The alternate allele is linked to reduced S100A14 expression (p=2.1e-7). GTEx Portal
  • SLC39A1 expression (lung tissue): The alternate allele is linked to increased SLC39A1 expression (p=1.5e-4). GTEx Portal

Evidence quality All available evidence for rs115462921 comes from GTEx v11 eQTL data derived from 953 donors, using a cis-window approach (searching for regulatory effects within the chromosomal vicinity of each gene) and filtered at a false discovery rate below 5%. GTEx Portal The colon transverse S100A14 signal is the stronger of the two (p=2.1e-7), while the lung SLC39A1 signal is weaker (p=1.5e-4). No independent replication of either eQTL signal is described in the provided data, and no GWAS-level disease or quantitative trait associations for this locus are reported in the provided study. Overall evidence should be considered preliminary.

Tissue-specific expression effects

  • S100A14: The alternate allele is associated with reduced expression in colon transverse tissue. GTEx Portal
  • SLC39A1: The alternate allele is associated with increased expression in lung tissue. GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs115462921?

rs115462921 is a genetic variant annotated to the INTS3 locus. Current data links it to changes in gene expression in colon and lung tissue, though no disease associations have been reported in available studies.

What is an eQTL and why does it matter?

An expression quantitative trait locus (eQTL) is a genetic variant that influences how much of a specific gene is produced in a particular tissue. eQTL associations describe gene-expression effects and do not directly indicate disease risk.

Which genes does rs115462921 affect?

GTEx v11 data links rs115462921 to reduced expression of S100A14 in colon transverse tissue and to increased expression of SLC39A1 in lung tissue.

Is rs115462921 associated with any disease?

No disease associations for rs115462921 are reported in the provided studies. Currently available data covers only tissue-specific gene expression effects from eQTL analysis.

How reliable is the evidence for rs115462921?

Evidence comes from GTEx v11 eQTL analysis across 953 donors. The colon S100A14 signal reaches p=2.1e-7 and the lung SLC39A1 signal reaches p=1.5e-4, both passing a false discovery rate threshold of 5%, but no independent replication has been described in available data.