Expressive

rs118137040 (TSPOAP1): TRIM37 eQTL Variant

Key takeaways

  • This variant acts as an expression regulator (eQTL), influencing how much of the TRIM37 gene is produced across multiple tissues simultaneously.
  • The alternative allele is linked to reduced TRIM37 activity in visceral abdominal fat, whole blood, lung tissue, and unexposed skin.
  • TEX14 gene expression is also reduced in sun-exposed skin in carriers of the alternative allele.
  • No direct disease outcome association for this specific variant has been established in the studies reviewed.
  • Evidence is currently limited to population-level gene expression reference data.

Key takeaways

  • This variant acts as an expression regulator (eQTL), influencing how much of the TRIM37 gene is produced across multiple tissues simultaneously.
  • The alternative allele is linked to reduced TRIM37 activity in visceral abdominal fat, whole blood, lung tissue, and unexposed skin.
  • TEX14 gene expression is also reduced in sun-exposed skin in carriers of the alternative allele.
  • No direct disease outcome association for this specific variant has been established in the studies reviewed.
  • Evidence is currently limited to population-level gene expression reference data.

What the research says A genome-wide association study (GWAS) - a method that scans millions of genetic variants simultaneously - covering 9,380,034 polymorphisms investigated the genetic basis of sulfasalazine-induced agranulocytosis (a dangerous drop in infection-fighting white blood cells) in 36 affected cases and 5,170 population controls; the study's primary associations mapped to the HLA (human leukocyte antigen) immune recognition region on chromosome 6, and rs118137040 was not identified as a significant signal for that trait. Separately, tissue-level expression data from GTEx v11, a reference resource drawn from 953 donors with a false-discovery rate threshold below 0.05, show that the alternative allele at this locus is consistently associated with reduced TRIM37 expression across four tissue types and with reduced TEX14 expression in skin GTEx Portal.

Reported associations

  • TRIM37 expression - visceral adipose tissue: The alternative allele is associated with reduced TRIM37 gene expression in abdominal fat tissue GTEx Portal
  • TRIM37 expression - whole blood: The alternative allele is associated with reduced TRIM37 expression in blood; this tissue shows the strongest statistical signal among the reported associations (p = 1.5 × 10^-6) GTEx Portal
  • TRIM37 expression - lung: The alternative allele is associated with reduced TRIM37 expression in lung tissue GTEx Portal
  • TRIM37 expression - unexposed skin: The alternative allele is associated with reduced TRIM37 expression in skin not regularly exposed to sunlight GTEx Portal
  • TEX14 expression - sun-exposed skin: The alternative allele is associated with reduced TEX14 gene expression in sun-exposed lower leg skin GTEx Portal

Evidence quality All direct evidence for rs118137040 derives from GTEx v11 eQTL data (953 donors, FDR < 0.05), a population reference resource rather than a targeted study of disease outcomes GTEx Portal. The TRIM37 association in whole blood carries the strongest statistical signal (p = 1.5 × 10^-6); the remaining tissue associations reach significance at p-values between 1.4 × 10^-4 and 1.9 × 10^-4. These are regulatory associations describing changes in messenger RNA levels and do not by themselves establish links to specific diseases or clinical outcomes. A GWAS of sulfasalazine-induced agranulocytosis spanning 9,380,034 variants was conducted in 36 cases and 5,170 controls, with its primary signal - at rs9266634 near HLA-B, odds ratio 5.36 (95% CI 2.97-9.69) - residing in the immune region on chromosome 6, not at the TSPOAP1 locus. Overall, evidence for this variant remains preliminary and is confined to expression regulation in reference datasets.

Tissue-specific expression effects

  • TRIM37: The alternative allele is associated with reduced expression in visceral abdominal fat, whole blood, lung, and sun-unexposed skin - four independent tissue contexts with the strongest statistical signal observed in whole blood GTEx Portal
  • TEX14: The alternative allele is associated with reduced expression in sun-exposed lower leg skin GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • agranulocytosis risk with sulfasalazine Moderate

    rs118137040 is associated with increased agranulocytosis risk when using sulfasalazine

    Discuss this genetic association with prescriber before using sulfasalazine; baseline and periodic CBC monitoring if used

Frequently asked questions

What does rs118137040 do?

rs118137040 is an eQTL - a genetic variant that affects how much of a specific gene is produced in certain tissues. Carrying the alternative allele is associated with reduced activity of the TRIM37 gene in blood, lung, fat, and skin, and reduced TEX14 activity in skin.

Which gene is rs118137040 associated with?

The variant sits near the TSPOAP1 gene, which gives it its common name. Its strongest documented molecular effects are on the expression levels of TRIM37, seen across four tissue types, and TEX14 in skin.

Is rs118137040 linked to any disease?

No direct disease association has been confirmed for rs118137040 in the research reviewed. Its documented effects are limited to tissue-level changes in how active certain genes are.

What is an eQTL and why does it matter for this variant?

An eQTL (expression quantitative trait locus) is a DNA variant that changes how active a nearby gene is, without necessarily altering the protein's structure. For rs118137040, this means the variant may reduce how much TRIM37 protein is available in certain tissues, rather than producing a structurally different protein.

In which tissues does rs118137040 affect gene expression?

Based on GTEx reference data from 953 donors, rs118137040 reduces TRIM37 expression in visceral abdominal fat, whole blood, lung, and sun-unexposed skin, and reduces TEX14 expression in sun-exposed lower leg skin.