rs10044368 (G3BP1/GLRA1): Multi-tissue eQTL Variant

Key takeaways

• The ALT allele at this variant reduces expression of a nearby gene (Ensembl ENSG00000275765) in the same direction across all eight tissue types tested in GTEx data.
• Reduced expression is observed in tibial artery, subcutaneous fat, tibial nerve, heart atrial appendage, thyroid, aorta, esophageal muscularis, and cultured fibroblasts.
• This variant was identified in a UK Biobank genome-wide association study (GWAS) of approximately 405,000 participants.
• No specific disease or trait associations for this variant are documented in the available evidence.

What the research says This variant was captured in a genome-wide association study (GWAS - a large-scale scan for links between genetic variants and traits or diseases) using Quickdraws, a scalable mixed-model method, applied to roughly 405,000 UK Biobank participants across 79 quantitative and 50 binary traits. The available study text does not report specific trait outcomes for rs10044368, so phenotype-level conclusions cannot be drawn from this evidence alone. GTEx v11 eQTL (expression quantitative trait locus - a genetic variant linked to changes in nearby gene expression levels) data from 953 donors, at a false discovery rate (FDR) below 5%, shows the ALT allele at the G3BP1-GLRA1 locus consistently reduces expression of ENSG00000275765 across eight distinct tissues, with p-values ranging from 2.7e-42 to 1.3e-84 GTEx Portal.

Reported associations

• Multi-tissue gene expression (eQTL): The ALT allele is robustly associated with reduced expression of ENSG00000275765 at this locus across cardiovascular, neural, metabolic, and connective tissue types, with all effect slopes negative and p-values below 3.0e-42 GTEx Portal.

Evidence quality GWAS evidence for this variant comes from a single large UK Biobank study (approximately 405,088 samples) using Quickdraws, a new mixed-model association method. No PMID is available for this study, and the published text does not name specific traits associated with rs10044368, leaving phenotypic evidence preliminary and without available replication data. The eQTL evidence from GTEx v11 is statistically strong: all eight tissue associations show consistent negative slopes (reduced expression), with p-values ranging from 2.7e-42 in heart atrial appendage to 1.3e-84 in subcutaneous adipose tissue, in a well-powered cohort of 953 donors GTEx Portal. In summary, expression-level evidence is robust and consistent in direction, while evidence for specific phenotype associations is absent from the provided text.

Tissue-specific expression effects

• ENSG00000275765: The ALT allele is associated with reduced expression in tibial artery (p=2.4e-80), subcutaneous adipose tissue (p=1.3e-84), tibial nerve (p=3.2e-75), thyroid (p=9.5e-60), esophageal muscularis (p=1.9e-61), cultured fibroblasts (p=1.7e-56), aorta (p=2.0e-52), and heart atrial appendage (p=2.7e-42) GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.