Expressive

rs10270171 (TOMM7): Mitochondrial Gene Expression

Key takeaways

  • rs10270171 sits near TOMM7, a gene on the outer mitochondrial membrane, and is linked to reduced TOMM7 expression across 8 tissue types
  • Skin shows the strongest reduction, with non-sun-exposed skin reaching a p-value of 5.4e-47 in GTEx data from 953 donors
  • The expression-lowering effect spans fat tissue, lung, thyroid, tibial nerve, and cultured fibroblasts in addition to skin
  • This variant was captured in the VA Million Veteran Program GWAS, one of the largest and most ancestrally diverse genetic studies ever conducted, covering 635,969 participants

Key takeaways

  • rs10270171 sits near TOMM7 (Translocase of Outer Mitochondrial Membrane 7), a gene component located on the outer mitochondrial membrane, and is linked to reduced TOMM7 expression across 8 tissue types
  • The expression-lowering effect spans skin (both sun-exposed and non-sun-exposed), fat tissue (visceral and subcutaneous), lung, thyroid, tibial nerve, and cultured fibroblasts
  • The strongest reduction appears in non-sun-exposed skin, and all 8 tissue associations are statistically robust (GTEx FDR < 0.05, p-values reaching 5.4e-47)
  • This variant was included in the VA Million Veteran Program GWAS, one of the most ancestrally diverse genomic studies ever conducted, covering 635,969 participants

What the research says The VA Million Veteran Program (MVP) conducted genome-wide association analyses across 2068 traits in 635,969 participants from diverse populations including African, Admixed American, East Asian, and European ancestry groups, identifying 26,049 variant-trait associations across 1270 traits. GTEx v11 eQTL data (953 donors, FDR < 0.05) shows the ALT allele of this variant is consistently associated with reduced TOMM7 expression across eight tissue types, including a slope of -0.42 (p=5.4e-47) in non-sun-exposed skin GTEx Portal.

Reported associations

  • TOMM7 gene expression in skin: The ALT allele is associated with reduced TOMM7 expression in both non-sun-exposed (suprapubic) and sun-exposed (lower leg) skin GTEx Portal
  • TOMM7 gene expression in adipose tissue: Reduced TOMM7 expression in both visceral (omentum) and subcutaneous fat tissue GTEx Portal
  • TOMM7 gene expression in lung, thyroid, tibial nerve, and cultured fibroblasts: Reduced TOMM7 expression in each of these additional tissue types GTEx Portal

Evidence quality The GTEx eQTL associations for TOMM7 are based on 953 donors and are statistically strong, with p-values ranging from approximately 1.3e-33 in subcutaneous adipose tissue to 5.4e-47 in non-sun-exposed skin, all meeting an FDR < 0.05 threshold GTEx Portal. The direction of effect is consistent across all eight tissues, which increases confidence in the reliability of these findings. These are expression quantitative trait locus (eQTL) findings, meaning they describe effects on measured gene activity levels rather than direct disease or health outcomes. Specific trait or disease associations from the MVP GWAS are not detailed in the available evidence for this variant.

Tissue-specific expression effects

  • TOMM7: Reduced expression in non-sun-exposed skin, sun-exposed skin, visceral adipose, subcutaneous adipose, lung, cultured fibroblasts, thyroid, and tibial nerve. The reduction is consistent in direction across all eight tissues, with skin showing the strongest effect GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is the TOMM7 gene?

TOMM7 stands for Translocase of Outer Mitochondrial Membrane 7. It encodes a component of a protein complex on the outer membrane of mitochondria, the energy-producing organelles inside cells. The variant rs10270171 sits near this gene and is associated with lower TOMM7 expression across multiple tissue types.

What does rs10270171 do to TOMM7 expression?

According to GTEx v11 data from 953 donors, the ALT allele of rs10270171 is linked to reduced TOMM7 expression across at least eight tissues. The effect is consistent in direction across all tissues, with the strongest reduction in non-sun-exposed skin (p=5.4e-47).

Which tissues are affected by rs10270171?

GTEx data identifies reduced TOMM7 expression in non-sun-exposed skin, sun-exposed skin, visceral adipose, subcutaneous adipose, lung, cultured fibroblasts, thyroid, and tibial nerve. All eight associations pass a false discovery rate threshold of 0.05.

Is rs10270171 linked to any diseases?

The available evidence focuses on gene expression effects rather than direct disease associations. This variant appears in the VA Million Veteran Program GWAS covering 2068 traits and 635,969 participants, but specific trait-level associations for this variant are not detailed in the current evidence base.

What is MTCYBP42 in the locus name rs10270171 - MTCYBP42 - TOMM7?

MTCYBP42 is a mitochondrial cytochrome b pseudogene located near this variant. A pseudogene is a genomic sequence that resembles a known gene but is typically non-functional. Its presence in the locus name reflects the chromosomal neighborhood of the variant rather than a direct functional role in the associated findings.