rs1055130 (DSCC1): Multi-tissue expression variant

Key takeaways

• rs1055130 reduces the activity of a nearby gene (ENSG00000279347) at the DSCC1 locus across at least 8 distinct tissue types
• The ALT allele consistently lowers expression in arteries, skin, nerve tissue, fat, and heart - never increasing it in any tested tissue
• GTEx v11 signals are statistically strong, with p-values reaching 4.1x10^-23 in tibial nerve tissue across 953 donors
• No disease or trait associations for this variant are reported in the currently available research materials

What the research says GTEx v11 data from 953 donors identifies rs1055130 as a cis-eQTL (a variant that influences the activity of a nearby gene) for ENSG00000279347 at the DSCC1 locus, with the ALT allele consistently reducing expression across eight tissue types GTEx Portal. Expression reductions range from approximately 0.41 to 0.47 log2-normalized units (a measure of relative gene activity), and p-values range from 1.3x10^-12 in heart atrial appendage to 4.1x10^-23 in tibial nerve, indicating robust signals across biologically diverse tissues GTEx Portal. A large-scale GWAS methods analysis using the Quickdraws algorithm evaluated 13.3 million genetic variants across 79 quantitative and 50 binary traits in approximately 405,000 UK Biobank participants, representing the analytical scale at which variants like rs1055130 are typically studied, though specific association findings for this variant are not reported in the provided text.

Reported associations

• Gene expression in arterial tissue: The ALT allele is associated with reduced expression of ENSG00000279347 in tibial artery (slope -0.47, p=9.6x10^-22) and aorta (slope -0.47, p=2.0x10^-13); slope values are log2-normalized units reflecting relative change in gene activity GTEx Portal
• Gene expression in skin: Reduced expression in sun-exposed lower leg skin (slope -0.44, p=1.9x10^-23) and non-sun-exposed suprapubic skin (slope -0.44, p=1.6x10^-17) GTEx Portal
• Gene expression in nerve and adipose tissue: Reduced expression in tibial nerve (slope -0.46, p=4.1x10^-23) and subcutaneous adipose tissue (slope -0.41, p=3.0x10^-21) GTEx Portal
• Gene expression in mammary and cardiac tissue: Reduced expression in breast mammary tissue (slope -0.47, p=8.1x10^-16) and heart atrial appendage (slope -0.41, p=1.3x10^-12) GTEx Portal

Evidence quality The GTEx v11 eQTL evidence for rs1055130 is statistically robust within its scope: all eight tissue associations fall well below standard FDR thresholds (FDR<0.05), with p-values ranging from 1.3x10^-12 to 4.1x10^-23 across 953 donors GTEx Portal. The consistent direction of effect (all negative, meaning reduced expression) across biologically diverse tissue types - vascular, neural, epithelial, adipose, and cardiac - increases confidence that rs1055130 has a genuine regulatory role at this locus. However, eQTL associations establish a relationship between a genetic variant and gene expression levels; they do not, on their own, establish links to disease or clinical outcomes. The provided large-scale GWAS methods paper (Quickdraws, Loya et al., Nature Genetics 2025) analyzed UK Biobank data at scale but does not specifically report trait associations for rs1055130. Evidence for phenotypic or clinical consequences of this variant is therefore absent from the provided materials, and the evidence base should be considered preliminary in scope.

Tissue-specific expression effects

• ENSG00000279347: Reduced expression in tibial artery, aorta, breast mammary tissue, tibial nerve, sun-exposed lower leg skin, non-sun-exposed suprapubic skin, subcutaneous adipose tissue, and heart atrial appendage - all reaching high statistical significance GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.