rs10971409 (B4GALT1): APTX Expression Variant
Key takeaways
- rs10971409 sits near B4GALT1 and reduces expression of a neighboring gene called APTX in fibroblast cells
- Tissue data from over 950 donors confirms the expression effect, though significance was reached only in fibroblasts among available tissues
- No disease associations for this variant are reported in the available research literature
- Evidence is preliminary and comes from gene expression studies rather than clinical outcome research
Key takeaways
- rs10971409 is a variant near the B4GALT1 (beta-1,4-galactosyltransferase 1) gene with limited study data currently available
- Tissue expression data from over 950 donors links this variant to reduced APTX gene expression in cultured fibroblasts
- No genome-wide significant disease or trait associations for this variant appear in the provided study literature
- Evidence is preliminary and limited to a single molecular expression finding
What the research says No genome-wide significant disease or trait associations for rs10971409 were identified in the provided study literature. Tissue-specific expression data from GTEx v11 (953 donors, cis-window, FDR<0.05) shows that the ALT allele at this locus is associated with reduced APTX gene expression in cultured fibroblasts, with an effect slope of -0.25 and a p-value of 2.4e-5 GTEx Portal.
Reported associations No genome-wide significant trait or disease associations for rs10971409 were reported in the provided study literature. The only quantitative finding is a tissue-level gene expression association described in the expression section below.
Evidence quality Evidence for rs10971409 is limited. The sole quantitative finding in the reviewed material is a cis-expression QTL (a type of genetic association linking a variant to nearby gene expression levels) from GTEx v11, based on 953 donors, showing reduced APTX expression in cultured fibroblasts (slope -0.25, p=2.4e-5, FDR<0.05) GTEx Portal. No GWAS replication data, clinical annotations, population-level risk estimates, or disease outcome associations are available in the provided literature. Current evidence should be considered preliminary.
Tissue-specific expression effects
- APTX: The ALT allele of rs10971409 is associated with reduced expression in cultured fibroblasts (slope -0.25, p=2.4e-5, FDR<0.05); no other tissues reached significance in the available data GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10971409?
rs10971409 is a genetic variant located near the B4GALT1 gene. Tissue expression data links it to reduced levels of a neighboring gene called APTX in cultured fibroblasts, though no disease associations have been confirmed.
Is rs10971409 linked to any diseases?
The available research literature does not report genome-wide significant disease associations for this variant. The only documented effect is on APTX gene expression levels in fibroblast cells.
What tissue is affected by the rs10971409 variant?
Based on GTEx data from over 950 donors, rs10971409 is associated with reduced expression of the APTX gene in cultured fibroblast cells. No effects in other tissues reached the significance threshold in the available data.
How strong is the evidence for rs10971409?
Evidence is limited and preliminary. The only quantitative finding is a tissue-level gene expression association from GTEx. No genome-wide association study results or clinical annotations are available in the reviewed literature.