rs115862481 (ASB17/ST6GALNAC3): ACADM Expression
Key takeaways
- This variant reduces ACADM gene expression in prostate and colon transverse tissue.
- The expression-reducing effect is roughly 70% stronger in prostate tissue than in colon transverse tissue.
- Evidence comes from GTEx v11 data across 953 donors, not from disease outcome studies.
- No genome-wide significant disease associations have been reported for this variant in the provided research.
Key takeaways
- This variant is associated with reduced ACADM gene expression in prostate and colon transverse tissue.
- The expression-reducing effect is larger in prostate tissue (slope -0.66, p=5.9e-6) than in colon transverse tissue (slope -0.38, p=9.2e-6).
- Evidence comes from GTEx v11 tissue expression data across 953 donors, not from disease outcome studies.
- No genome-wide significant disease associations were identified for this variant in the provided research.
What the research says Tissue expression data from GTEx v11 (953 donors, FDR<0.05) shows that rs115862481 is linked to reduced ACADM expression in two tissues: prostate and colon transverse GTEx Portal. The alternative allele shows a stronger expression-reducing effect in prostate tissue (slope -0.66) than in the colon transverse tissue (slope -0.38), with both associations passing the false discovery rate threshold GTEx Portal.
Reported associations
- ACADM expression in prostate: The alternative allele is associated with reduced ACADM expression in prostate tissue; effect size slope -0.66, p=5.9e-6 GTEx Portal
- ACADM expression in colon transverse: The alternative allele is associated with reduced ACADM expression in colon transverse tissue; effect size slope -0.38, p=9.2e-6 GTEx Portal
Evidence quality All available evidence for rs115862481 comes from eQTL (expression quantitative trait locus - a measure of how a genetic variant influences the activity of nearby genes) data in GTEx v11, based on 953 donors analyzed within a cis-window (the genomic region immediately surrounding the variant) at FDR<0.05. No disease outcome studies in the provided literature specifically report associations for this variant. The evidence is preliminary and limited in scope, representing gene expression effects in two tissues without replication across independent datasets or disease-level endpoints.
Tissue-specific expression effects
- ACADM: Reduced expression in both prostate and colon transverse tissue in carriers of the alternative allele; the reduction is more pronounced in prostate tissue than in colon transverse tissue GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs115862481?
rs115862481 is a genetic variant located near the ASB17 and ST6GALNAC3 genes. It is associated with changes in the expression of the ACADM gene in prostate and colon tissue, according to GTEx expression data from 953 donors.
What effect does rs115862481 have on gene expression?
Carriers of the alternative allele show reduced ACADM gene expression in both prostate tissue and colon transverse tissue. The effect is larger in prostate tissue, with a slope of -0.66 compared to -0.38 in colon transverse tissue.
Is rs115862481 linked to any diseases?
No disease outcome associations for this variant were found in the available research. Evidence is currently limited to gene expression effects in two specific tissues.
Which genes are near rs115862481?
This variant is located near two genes named ASB17 and ST6GALNAC3. It also shows effects on the expression of the ACADM gene in prostate and colon tissue according to GTEx data.
What is an eQTL and why does it matter for rs115862481?
An eQTL, or expression quantitative trait locus, is a genetic variant associated with differences in how actively a nearby gene is expressed in cells. For rs115862481, GTEx data identifies it as an eQTL for ACADM in prostate and colon transverse tissue, meaning carriers may have different levels of ACADM gene activity in those tissues.