Expressive

rs12456112 (GNAL): Muscle and Fat eQTL Variant

Key takeaways

  • rs12456112 is an expression variant (eQTL) linked to higher GNAL gene activity in skeletal muscle, based on GTEx data from 953 donors.
  • The same variant is also associated with reduced CHMP1B gene activity in testis and visceral belly fat.
  • One variant affects two separate genes across three tissue types, making its downstream function difficult to predict.
  • No disease or health outcome has been linked to this variant in the provided study evidence.

Key takeaways

  • rs12456112 is an expression variant (eQTL) linked to higher GNAL gene activity in skeletal muscle, based on GTEx data from 953 donors.
  • The same variant is also associated with reduced CHMP1B gene activity in testis and visceral belly fat.
  • One variant affects two separate genes across three tissue types, making its downstream function difficult to predict.
  • No disease or health outcome has been linked to this variant in the provided study evidence.

What the research says GTEx v11 data (953 donors, cis-window, FDR<0.05) identifies rs12456112 as an expression quantitative trait locus (eQTL), meaning it predicts differences in how actively nearby genes are expressed in specific tissues. The alternate allele is associated with increased GNAL expression in skeletal muscle (slope +0.38, p=3.5e-10) GTEx Portal. The same allele is associated with reduced CHMP1B expression in testicular tissue (slope -0.35, p=2.3e-5) and in omental visceral fat (slope -0.26, p=8.7e-5) GTEx Portal.

Reported associations

  • GNAL expression in skeletal muscle: The alternate allele is associated with increased GNAL gene activity in skeletal muscle (slope +0.38, p=3.5e-10) GTEx Portal.
  • CHMP1B expression in testis: The alternate allele is associated with reduced CHMP1B gene activity in testicular tissue (slope -0.35, p=2.3e-5) GTEx Portal.
  • CHMP1B expression in visceral adipose tissue: The alternate allele is associated with reduced CHMP1B gene activity in omental visceral fat (slope -0.26, p=8.7e-5) GTEx Portal.

Evidence quality All available evidence for rs12456112 comes from GTEx v11 eQTL analysis (953 donors, cis-window, FDR<0.05). The skeletal muscle GNAL signal is very strongly supported (p=3.5e-10), while the CHMP1B signals in testis (p=2.3e-5) and omental fat (p=8.7e-5) are statistically significant but less extreme. These are gene-expression associations, not disease or trait associations. No genome-wide association study (GWAS) data linking this variant to health outcomes were included in the provided study materials, so the downstream biological relevance of these expression changes remains unestablished from the current evidence base.

Tissue-specific expression effects

  • GNAL: The alternate allele is associated with increased expression in skeletal muscle GTEx Portal.
  • CHMP1B: The alternate allele is associated with reduced expression in both testicular tissue and omental visceral adipose tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs12456112 do?

rs12456112 is a genetic variant that influences how actively two nearby genes are expressed in certain tissues. The alternate allele increases GNAL gene activity in skeletal muscle and decreases CHMP1B gene activity in testis and visceral fat.

Is rs12456112 linked to any diseases?

Based on the evidence reviewed, no genome-wide association studies have linked rs12456112 to specific diseases or health conditions. Current evidence is limited to tissue-specific gene expression effects from the GTEx project.

Which genes does rs12456112 influence?

rs12456112 is an eQTL for two genes: GNAL, whose expression is increased in skeletal muscle, and CHMP1B, whose expression is reduced in testis and omental visceral adipose tissue.

What is an eQTL?

An eQTL, or expression quantitative trait locus, is a genetic variant statistically associated with differences in how much a nearby gene is expressed in a given tissue. rs12456112 acts as an eQTL for GNAL in skeletal muscle and for CHMP1B in testis and visceral fat.