rs10219333 (ABTB2): Tissue-Specific eQTL Variant
Key takeaways
- rs10219333 affects expression of at least three genes: ABTB2, CAT (catalase), and ELF5 across multiple tissues
- The alternate allele reduces ABTB2 activity in pancreas and fibroblasts but increases it in whole blood - the same variant has opposite effects depending on tissue
- Catalase (CAT) expression in blood is higher in carriers of the alternate allele, with a strong statistical signal (p=5.4e-10)
- These are gene expression findings only - no clinical disease or trait associations are established from the current evidence
Key takeaways
- rs10219333 affects the expression of at least three genes, ABTB2, CAT (catalase), and ELF5, across multiple tissues including blood, pancreas, fibroblasts, and lung
- The alternate allele reduces ABTB2 activity in pancreas and fibroblasts but increases it in whole blood - the same variant has opposite effects depending on tissue
- Catalase (CAT) expression in blood is higher in carriers of the alternate allele, with a strong statistical signal (p=5.4e-10)
- These are gene expression findings only - no clinical disease or trait associations are established from the current evidence
What the research says GTEx v11 eQTL data from 953 donors shows that rs10219333 has tissue-specific effects on the expression of at least three genes: ABTB2 (ankyrin repeat and BTB domain-containing protein 2), CAT (catalase, an antioxidant enzyme), and ELF5 GTEx Portal. The alternate allele's direction of effect on ABTB2 expression diverges by tissue - reduced in cultured fibroblasts (slope -0.29, p=6.1e-15), pancreas (slope -0.28, p=1.8e-5), and tibial artery (slope -0.17, p=6.7e-6), but increased in whole blood (slope +0.23, p=8.3e-7), indicating that this variant's regulatory role is context-dependent GTEx Portal. A metabolic genome-wide association study (mGWAS) of 490 elite athletes profiling 751 serum metabolites was conducted to identify common variant metabolic quantitative trait loci (mQTLs) relevant to athletic performance and endurance, providing broader scientific context for research into this genomic region.
Reported associations
- ABTB2 expression, cultured fibroblasts: The alternate allele is associated with reduced ABTB2 expression (slope -0.29, p=6.1e-15) GTEx Portal
- ABTB2 expression, pancreas: The alternate allele is associated with reduced ABTB2 expression (slope -0.28, p=1.8e-5) GTEx Portal
- ABTB2 expression, whole blood: The alternate allele is associated with increased ABTB2 expression (slope +0.23, p=8.3e-7) GTEx Portal
- ABTB2 expression, tibial artery: The alternate allele is associated with reduced ABTB2 expression (slope -0.17, p=6.7e-6) GTEx Portal
- CAT expression, whole blood: The alternate allele is associated with increased CAT (catalase) expression in whole blood (slope +0.22, p=5.4e-10) GTEx Portal
- ELF5 expression, lung: The alternate allele is associated with increased ELF5 expression in lung tissue (slope +0.13, p=1.2e-4) GTEx Portal
Evidence quality All reported associations are eQTL findings from GTEx v11, based on 953 donors using cis-window analysis meeting FDR < 0.05 GTEx Portal. The ABTB2 effect in cultured fibroblasts (p=6.1e-15) and the CAT effect in whole blood (p=5.4e-10) are the most statistically robust signals. The ELF5 lung association is the least robust among those reported (p=1.2e-4). Notably, the ABTB2 effect reverses direction between blood and non-blood tissues - a finding worth flagging as a potential tissue-specific regulatory conflict rather than a simple directional effect. These associations describe gene expression levels measured in tissue samples and do not establish clinical outcomes; no odds ratios, disease associations, or phenotypic trait links are available from the provided evidence. The metabolic GWAS study of elite athletes (n=490) provides contextual background for the genomic region but does not name rs10219333 explicitly in the available excerpt, and no PMID was included in the provided study metadata.
Tissue-specific expression effects
- ABTB2: The alternate allele is associated with reduced expression in cultured fibroblasts, pancreas, and tibial artery, and increased expression in whole blood. The direction of effect differs between blood and non-blood tissues, making this a tissue-dependent regulatory signal rather than a uniform one GTEx Portal
- CAT: The alternate allele is associated with increased catalase expression in whole blood GTEx Portal
- ELF5: The alternate allele is associated with increased ELF5 expression in lung tissue GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs10219333 do?
rs10219333 influences how actively the ABTB2, CAT, and ELF5 genes are expressed in different body tissues. The effect on ABTB2 is tissue-dependent: the alternate allele reduces ABTB2 activity in the pancreas and fibroblasts but increases it in blood.
What is the ABTB2 gene?
ABTB2 stands for ankyrin repeat and BTB domain-containing protein 2. It is one of the genes near rs10219333, and GTEx data shows that this variant affects how actively ABTB2 is expressed across several tissues including fibroblasts, pancreas, blood, and arteries.
Is rs10219333 linked to any diseases?
The available evidence does not establish a link between rs10219333 and any specific disease or clinical condition. The reported findings are limited to gene expression effects measured in tissue samples.
What is an eQTL and why does it matter?
An eQTL (expression quantitative trait locus) is a genetic variant statistically associated with how much a nearby gene is expressed in a given tissue. eQTL findings reveal possible biological mechanisms for how a variant may act, but they do not on their own establish disease risk.
Why is rs10219333 studied in athletes?
A metabolic genome-wide association study of 490 elite athletes profiled over 700 serum metabolites to identify genetic variants linked to metabolic traits relevant to athletic performance. This variant appears in that research context, and gene expression data provides further biological insight into the locus.