Expressive

rs11848254 (UNC79): Adipose Gene Expression Variant

Key takeaways

  • rs11848254 is associated with increased UNC79 expression in subcutaneous fat tissue
  • The variant also increases BTBD7 expression in testicular and esophageal tissue
  • All established associations are tissue-level gene expression effects, not confirmed disease links
  • A large GWAS of approximately 1.5 million people identified 500+ loci for self-regulation traits including ADHD, substance use, and risk tolerance, enriched for brain-expressed genes

Key takeaways

  • rs11848254 is associated with increased UNC79 expression in subcutaneous fat tissue
  • The variant also increases BTBD7 expression in testicular and esophageal tissue
  • All established associations are tissue-level gene expression effects, not confirmed disease links
  • A large GWAS of approximately 1.5 million people identified 500+ loci for self-regulation traits including ADHD, substance use, and risk tolerance, enriched for brain-expressed genes

What the research says GTEx v11 expression-QTL analyses across 953 tissue donors identify rs11848254 as a cis-eQTL (a variant that influences nearby gene expression) for UNC79 in subcutaneous adipose tissue, with the alternate allele associated with a log2-normalized expression slope of +0.18 (p=1.5e-4) GTEx Portal. The same variant increases BTBD7 expression in testicular tissue (slope +0.18, p=1.4e-7) and esophageal mucosa (slope +0.09, p=5.7e-5) GTEx Portal. A multivariate GWAS pooling approximately 1.5 million individuals examined externalizing traits (a cluster of behaviors related to self-regulation, including ADHD, problematic alcohol use, cannabis use, risk tolerance, and smoking initiation) and identified more than 500 genetic loci enriched for genes expressed in the brain and involved in nervous system development.

Reported associations

  • UNC79 gene expression (subcutaneous adipose tissue): alternate allele associated with increased expression; log2 slope +0.18, p=1.5e-4 GTEx Portal
  • BTBD7 gene expression (testis): alternate allele associated with increased expression; log2 slope +0.18, p=1.4e-7 GTEx Portal
  • BTBD7 gene expression (esophagus mucosa): alternate allele associated with increased expression; log2 slope +0.09, p=5.7e-5 GTEx Portal

Evidence quality All direct associations for rs11848254 derive from GTEx v11 eQTL analyses across 953 donors at FDR < 0.05. The testis BTBD7 effect is the strongest (p=1.4e-7); the adipose UNC79 effect is more modest (p=1.5e-4) but still passes the project-level FDR threshold. Two large GWAS studies are provided as contextual references: a UK Biobank analysis of approximately 500,000 participants examining fat-free mass and cancer risk, and a multivariate externalizing-traits GWAS across approximately 1.5 million individuals identifying 500+ loci enriched for brain-expressed genes. Neither study explicitly names rs11848254, so no direct trait-level associations can be attributed to this variant from those sources. The overall evidence for downstream health consequences of this variant is preliminary and limited to gene-expression-level data.

Tissue-specific expression effects

  • UNC79: increased expression in subcutaneous adipose tissue with the alternate allele GTEx Portal
  • BTBD7: increased expression in testis and esophageal mucosa with the alternate allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs11848254 do?

rs11848254 is linked to increased expression of UNC79 in subcutaneous fat tissue and increased expression of BTBD7 in testicular and esophageal tissue. These are gene expression effects measured in large tissue studies, not direct disease associations.

What is the UNC79 gene?

UNC79 is the gene nearest to rs11848254. Based on large-scale tissue data, carriers of the alternate allele of this variant tend to show slightly higher UNC79 activity in subcutaneous fat tissue.

Is rs11848254 linked to ADHD or behavioral traits?

A large GWAS of approximately 1.5 million people found over 500 genetic loci associated with externalizing traits such as ADHD, substance use, and risk tolerance, enriched for brain-expressed genes. Whether this specific variant is among those loci is not confirmed in the study data provided.

What is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a specific gene is expressed in a given tissue. rs11848254 acts as an eQTL for UNC79 and BTBD7, meaning individuals with different alleles show different expression levels of those genes in specific tissues.

Which tissues are affected by rs11848254?

GTEx eQTL data identifies effects in subcutaneous adipose tissue (fat beneath the skin) for UNC79, and in testis and esophageal mucosa for BTBD7, all reaching statistical significance at FDR less than 0.05.