rs10509643 (CPEB3): FGFBP3 Expression in Fat Tissue
Key takeaways
- A gene expression dataset of 953 donors found that the alternate allele at rs10509643 is associated with higher FGFBP3 activity specifically in subcutaneous (under-skin) fat tissue.
- A metabolic GWAS of 490 elite athletes provides research context for this variant, though specific association data for rs10509643 are not detailed in the provided study text.
- No replicated associations with diseases or health conditions are available for this variant in the provided evidence.
- Overall evidence is limited and preliminary, coming from a single tissue expression finding and one metabolomics study in athletes.
Key takeaways
- A gene expression dataset of 953 donors found that the alternate allele at rs10509643 is associated with higher FGFBP3 activity specifically in subcutaneous (under-skin) fat tissue.
- A metabolic GWAS of 490 elite athletes provides research context for this variant, though specific association data for rs10509643 are not detailed in the provided study text.
- No replicated associations with diseases or health conditions are available for this variant in the provided evidence.
- Overall evidence is limited and preliminary, coming from a single tissue expression finding and one metabolomics study in athletes.
What the research says A genome-wide metabolic association study (mGWAS) in 490 elite athletes investigated how common genetic variants influence serum metabolite levels, identifying novel metabolic quantitative trait loci (mQTLs, genetic variants that affect measurable metabolite concentrations) and comparing them to findings in non-elite populations. Gene expression data from the GTEx project (Genotype-Tissue Expression, a database linking genetic variants to gene expression across human tissues) shows that the alternate allele at rs10509643 is associated with increased expression of FGFBP3 (fibroblast growth factor binding protein 3) in subcutaneous adipose tissue (fat beneath the skin), based on measurements across 953 donors GTEx Portal.
Reported associations
- FGFBP3 expression in subcutaneous adipose tissue: The alternate allele at rs10509643 is linked to increased FGFBP3 gene expression in subcutaneous fat tissue, with a p-value of 1.1e-6 at FDR less than 0.05 in a dataset of 953 donors GTEx Portal.
Evidence quality The eQTL finding (an expression quantitative trait locus, meaning a genetic variant that influences how much a gene is expressed) is drawn from GTEx v11, based on 953 donors with cis-window analysis (examining variants located near the target gene) at a significance threshold of FDR less than 0.05 GTEx Portal. A metabolic GWAS in 490 elite athletes identified novel mQTLs in loci including FOLH1, VNN1, and SULT2A1, but the provided study text does not specifically report association data for rs10509643 or the CPEB3 locus by name. No independent replication of the FGFBP3 expression finding is reported in the provided sources, and the evidence base is narrow, coming from a single tissue type in one dataset. Findings are preliminary.
Tissue-specific expression effects
- FGFBP3: Increased expression in subcutaneous adipose tissue (fat beneath the skin) for carriers of the alternate allele, reaching statistical significance at FDR less than 0.05 across 953 donors GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10509643?
rs10509643 is a genetic variant (single nucleotide polymorphism) located near the CPEB3 gene. Research has found that the alternate form of this variant is associated with higher expression of the FGFBP3 gene specifically in subcutaneous (under-skin) fat tissue.
What does rs10509643 affect in the body?
Based on available gene expression data, rs10509643 is associated with changes in how much the FGFBP3 gene is expressed in subcutaneous adipose tissue. This tissue-specific effect was identified in a dataset of 953 donors, though its broader health implications are not established by the available evidence.
Is rs10509643 linked to athletic performance?
A metabolic GWAS study of 490 elite athletes was conducted in the research context of this variant, but the provided study text does not detail specific findings linking rs10509643 to athletic performance outcomes.
What is an eQTL and why does it matter for rs10509643?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how actively a gene is expressed. rs10509643 is an eQTL for FGFBP3 in subcutaneous fat tissue, identified in the GTEx gene expression database across 953 donors.
Is rs10509643 associated with any diseases?
No disease or health condition associations for rs10509643 are reported in the provided research. The available evidence is limited to one gene expression finding in fat tissue.