rs10798348 (KIAA0040): Multi-tissue expression variant
Key takeaways
- rs10798348 sits near the KIAA0040 gene and the RPS29P4 locus.
- GTEx data link this variant to altered KIAA0040 expression in at least six tissue types.
- Expression changes are tissue-dependent - increased in immune cells and the aorta, reduced in brain and fat.
- This variant was identified in a UK Biobank GWAS of roughly 405,000 people, but specific disease associations are not reported in the available evidence.
Key takeaways
- rs10798348 sits near the KIAA0040 gene and the RPS29P4 locus.
- GTEx data link this variant to altered KIAA0040 expression in at least six tissue types including subcutaneous fat, brain, immune cells, and digestive tissue.
- Expression changes are tissue-dependent - increased in EBV-transformed lymphocytes and the aorta, reduced in subcutaneous fat and brain.
- This variant was flagged in a UK Biobank genome-wide association study of roughly 405,000 participants; specific disease trait associations are not detailed in the available evidence.
What the research says rs10798348, at the KIAA0040 - RPS29P4 locus, was identified in a genome-wide association study applying the Quickdraws method to approximately 405,000 UK Biobank participants across 79 quantitative and 50 binary traits. GTEx version 11 eQTL (expression quantitative trait locus) data from 953 donors at a false discovery rate below 0.05 link the alternate allele at this locus to tissue-specific changes in KIAA0040 expression across six tissue types GTEx Portal. Two additional nearby genes also show altered expression at this locus, in testicular and subcutaneous adipose tissue GTEx Portal.
Reported associations
- KIAA0040 expression (subcutaneous adipose tissue): Reduced expression with the alternate allele (p = 7.6e-9) GTEx Portal.
- KIAA0040 expression (anterior cingulate cortex, BA24): Reduced expression in this brain region (p = 8.0e-5) GTEx Portal.
- KIAA0040 expression (EBV-transformed lymphocytes): Increased expression in these laboratory-derived immune cells (p = 1.6e-8) GTEx Portal.
- KIAA0040 expression (aorta): Increased expression in aortic tissue (p = 5.9e-5) GTEx Portal.
- KIAA0040 expression (sigmoid colon): Reduced expression in the sigmoid colon (p = 2.4e-5) GTEx Portal.
- KIAA0040 expression (esophageal-gastroesophageal junction): Reduced expression at this site (p = 9.8e-6) GTEx Portal.
- ENSG00000260990 expression (testis): Reduced expression in testicular tissue (p = 5.5e-7) GTEx Portal.
- ENSG00000302295 expression (subcutaneous adipose tissue): Reduced expression in subcutaneous fat (p = 1.5e-4) GTEx Portal.
Evidence quality The GWAS evidence for this locus derives from a single large-scale analysis of UK Biobank data (approximately 405,000 participants) using Quickdraws, a method benchmarked against REGENIE, FastGWA, and BOLT-LMM. No specific p-value, effect size, or trait name for this variant is reported in the available study text, limiting direct assessment of association strength for any phenotype. The eQTL evidence from GTEx v11 (953 donors, FDR below 0.05) provides the most detailed data, with p-values for KIAA0040 expression effects ranging from 7.6e-9 in subcutaneous fat to 8.0e-5 in the anterior cingulate cortex across six tissues; slopes range from -0.17 to -0.21 for tissues showing reduced expression and +0.19 to +0.20 for tissues showing increased expression (log2-normalized units). No independent replication studies for this specific variant appear in the available evidence, and the overall evidence should be considered preliminary.
Tissue-specific expression effects
- KIAA0040: The alternate allele is associated with reduced expression in subcutaneous fat, the anterior cingulate cortex (brain area BA24), the sigmoid colon, and the esophageal-gastroesophageal junction; and with increased expression in EBV-transformed lymphocytes (a cell type used in laboratory studies) and the aorta GTEx Portal.
- ENSG00000260990: Reduced expression in testicular tissue GTEx Portal.
- ENSG00000302295: Reduced expression in subcutaneous adipose tissue GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is the KIAA0040 gene?
KIAA0040 is a gene at the rs10798348 locus. GTEx expression data show its activity levels vary depending on which version of this variant a person carries, with effects seen across tissues including fat, brain, and immune cells.
What does rs10798348 affect?
Based on GTEx expression data, rs10798348 is linked to changes in KIAA0040 expression across at least six tissues including subcutaneous fat, the anterior cingulate cortex, the aorta, lymphocytes, the sigmoid colon, and the esophageal junction. No confirmed disease or clinical trait association is available in the current evidence.
Was rs10798348 found in a genome-wide association study?
Yes, this variant was identified using the Quickdraws method in a UK Biobank genome-wide association study of approximately 405,000 individuals analyzing 79 quantitative and 50 binary traits. However, the specific trait associated with this variant is not detailed in the available study text.
What is an eQTL and why does it matter for rs10798348?
An eQTL (expression quantitative trait locus) is a genetic variant linked to how much a nearby gene is expressed in specific tissues. For rs10798348, GTEx data identify it as an eQTL for KIAA0040 across multiple tissues, suggesting it influences biology through gene regulation rather than by directly changing a protein.
Is rs10798348 linked to any disease?
No specific disease association has been confirmed for rs10798348 in the available studies. The variant was flagged in a large GWAS and shows tissue-level expression effects, but further research is needed to establish any connection to a clinical condition.