rs10926989 (SDCCAG8): Multi-tissue eQTL variant
Key takeaways
- The alternate allele at rs10926989 consistently increases SDCCAG8 expression across 7 tissue types in GTEx v11 data, including whole blood, immune cells, peripheral nerve, fibroblasts, fat tissue, breast tissue, and pancreas.
- The strongest single-tissue signal is in cultured fibroblasts (p=1.3e-83), with similarly robust effects in whole blood (p=1.1e-56) and tibial nerve (p=1.0e-50).
- The same alternate allele also shows a smaller, secondary effect on CEP170 expression in fibroblasts.
- This variant was catalogued in the VA Million Veteran Program GWAS, a diverse large-scale genomic study spanning 2,068 traits in 635,969 participants.
Key takeaways
- The alternate allele at rs10926989 consistently increases SDCCAG8 expression across 7 tissue types in GTEx v11 data, including whole blood, immune cells, peripheral nerve, fibroblasts, fat tissue, breast tissue, and pancreas.
- The strongest single-tissue signal is in cultured fibroblasts (p=1.3e-83), with similarly robust effects in whole blood (p=1.1e-56) and tibial nerve (p=1.0e-50).
- The same alternate allele also shows a smaller, secondary effect on CEP170 expression in fibroblasts.
- This variant was catalogued in the VA Million Veteran Program GWAS, a diverse large-scale genomic study spanning 2,068 traits in 635,969 participants.
What the research says
GTEx v11 data from 953 donors identifies rs10926989 as an expression quantitative trait locus (eQTL, a genetic position associated with differences in how much RNA a gene produces) for SDCCAG8 across seven tissue types, with every signal meeting a false discovery rate (FDR, a threshold that limits the share of incorrect positive findings) below 0.05 GTEx Portal. The alternate allele is linked to increased SDCCAG8 expression in all seven tested tissues, with log2-normalized effect sizes ranging from +0.38 in pancreas to +0.55 in EBV-transformed lymphocytes GTEx Portal. A secondary, smaller eQTL effect on CEP170 expression was also identified in cultured fibroblasts GTEx Portal.
Reported associations
- SDCCAG8 gene expression (multiple tissues): The alternate allele is associated with increased SDCCAG8 expression across 7 tissues: EBV-transformed lymphocytes (+0.55, p=1.6e-29), tibial nerve (+0.52, p=1.0e-50), cultured fibroblasts (+0.51, p=1.3e-83), whole blood (+0.43, p=1.1e-56), breast mammary tissue (+0.40, p=5.8e-21), subcutaneous adipose (+0.40, p=5.7e-31), and pancreas (+0.38, p=1.4e-18) GTEx Portal
- CEP170 gene expression (cultured fibroblasts): The alternate allele is associated with modestly increased CEP170 expression (+0.20, p=3.5e-35) GTEx Portal
Evidence quality
All reported eQTL signals originate from GTEx v11 (953 donors, FDR below 0.05 per tissue) GTEx Portal. The SDCCAG8 associations carry p-values from 1.4e-18 in pancreas to 1.3e-83 in fibroblasts, and the direction of effect is consistently positive across every tissue tested, which strengthens confidence GTEx Portal. The CEP170 effect in fibroblasts (p=3.5e-35) is statistically strong but its effect size (+0.20) is roughly one-third the SDCCAG8 fibroblast signal (+0.51) GTEx Portal. These are regulatory associations: they indicate that the alternate allele is linked to higher RNA output for these genes but do not by themselves connect this locus to any clinical outcome. The variant also appears in the VA Million Veteran Program GWAS (635,969 participants, 29% from populations genetically similar to African, Admixed American, and East Asian reference groups, spanning 2,068 traits), though the provided text does not enumerate specific disease or trait associations for this locus. No conflicting findings are present in the available data.
Tissue-specific expression effects
- SDCCAG8: The alternate allele is associated with increased expression across seven tissues: EBV-transformed lymphocytes, tibial nerve, cultured fibroblasts, whole blood, breast mammary tissue, subcutaneous adipose tissue, and pancreas. The most statistically extreme signal is in cultured fibroblasts; the largest effect sizes are in lymphocytes and tibial nerve GTEx Portal
- CEP170: The alternate allele is associated with increased expression in cultured fibroblasts GTEx Portal
Lifestyle considerations
No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10926989?
rs10926989 is a single-nucleotide polymorphism, a common type of genetic variant, located near the SDCCAG8 gene. GTEx v11 data show that carrying the alternate form of this variant is consistently associated with higher SDCCAG8 gene activity across multiple tissue types.
What does SDCCAG8 do?
The studies provided here document SDCCAG8 as a gene whose expression levels are influenced by rs10926989 across multiple tissues. The provided data focus on genetic associations rather than describing the gene's molecular functions in detail.
Is rs10926989 linked to any diseases?
The available data establish rs10926989 as an expression-regulating variant for SDCCAG8, but specific disease or trait associations for this position are not detailed in the provided studies. The variant appears in the VA Million Veteran Program GWAS, which covers 2,068 traits, but the locus-specific findings are not enumerated in the provided text.
What is an eQTL?
An eQTL, or expression quantitative trait locus, is a genetic variant statistically associated with differences in how much RNA a given gene produces. rs10926989 is an eQTL for SDCCAG8, meaning people with different alleles at this position tend to have different amounts of SDCCAG8 RNA across multiple tissues.
In which tissues does rs10926989 affect gene expression?
According to GTEx v11 data, the alternate allele is associated with increased SDCCAG8 expression in seven tissues: EBV-transformed lymphocytes, tibial nerve, cultured fibroblasts, whole blood, breast mammary tissue, subcutaneous adipose tissue, and pancreas. A smaller effect on CEP170 expression was also observed in cultured fibroblasts.