rs1131877 (TRAF3): Brain eQTL Variant
Key takeaways
- rs1131877 increases TRAF3 gene expression across at least eight tissues, with the strongest effects in several brain regions
- The hypothalamus and spinal cord cervical c-1 show the largest expression increases tied to this variant
- Effects also appear in spleen, thyroid, and esophagus mucosa
- All available evidence is gene-regulatory in nature and does not directly establish links to specific diseases
- Clinical significance for this variant is not established by the research reviewed here
Key takeaways
- rs1131877 increases TRAF3 gene expression across at least eight tissues, with the strongest effects in several brain regions
- The hypothalamus and spinal cord cervical c-1 show the largest expression increases tied to this variant
- Effects also appear in spleen, thyroid, and esophagus mucosa
- All available evidence is gene-regulatory in nature and does not directly establish links to specific diseases
- Clinical significance for this variant is not established by the research reviewed here
What the research says The GTEx project (version 11, 953 donors) identifies rs1131877 as an expression quantitative trait locus (eQTL) - a variant that influences how much TRAF3 messenger RNA is produced in cells - across eight tissues, all passing a false discovery rate threshold below 5% GTEx Portal. The alt allele is consistently associated with increased expression of the gene, with the strongest effects in brain spinal cord cervical c-1 (slope +0.32, p=3.2e-7) and brain hypothalamus (slope +0.26, p=7.0e-9) GTEx Portal. A large exome-wide meta-analysis covering up to 718,734 individuals and studying protein-altering variants alongside body mass index is among the studies reviewed, but TRAF3 and this specific variant are not described in the excerpt provided, so no direct phenotypic association can be attributed to that work here.
Reported associations
- TRAF3 expression (brain spinal cord, cervical c-1): Alt allele associated with increased TRAF3 expression (slope +0.32, p=3.2e-7) GTEx Portal
- TRAF3 expression (brain hypothalamus): Alt allele associated with increased expression (slope +0.26, p=7.0e-9) GTEx Portal
- TRAF3 expression (brain cortex): Alt allele associated with increased expression (slope +0.20, p=2.7e-8) GTEx Portal
- TRAF3 expression (brain anterior cingulate cortex, BA24): Alt allele associated with increased expression (slope +0.20, p=3.0e-5) GTEx Portal
- TRAF3 expression (spleen): Alt allele associated with increased expression (slope +0.19, p=1.0e-6) GTEx Portal
- TRAF3 expression (brain frontal cortex, BA9): Alt allele associated with increased expression (slope +0.18, p=2.4e-7) GTEx Portal
- TRAF3 expression (esophagus mucosa): Alt allele associated with increased expression (slope +0.18, p=1.9e-8) GTEx Portal
- TRAF3 expression (thyroid): Alt allele associated with increased expression (slope +0.16, p=1.3e-6) GTEx Portal
Evidence quality All associations come from GTEx v11, a reference dataset of 953 donors using cis-window expression analysis, with all eight tissue associations passing a false discovery rate below 5% GTEx Portal. P-values across the tissues range from 3.0e-5 in the anterior cingulate cortex (the weakest signal among the eight) to 7.0e-9 in the hypothalamus (the strongest). All eight tissues show the same direction of effect, with no conflicting findings within the provided data. eQTL evidence is mechanistic in nature - it demonstrates a regulatory effect on gene expression but does not by itself establish associations with clinical outcomes. The exome-wide BMI study included in the reviewed literature covers up to 718,734 individuals and identified 14 coding variants in 13 genes associated with body mass index, but does not describe TRAF3 or rs1131877 in the excerpt provided, leaving phenotypic associations absent from the reviewed literature for this variant.
Tissue-specific expression effects
- TRAF3: Increased expression across five brain regions (spinal cord cervical c-1, hypothalamus, cortex, anterior cingulate cortex BA24, and frontal cortex BA9), as well as spleen, esophagus mucosa, and thyroid; the alt allele consistently raises expression in all eight tissues without exception GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs1131877?
rs1131877 is a genetic variant located near the TRAF3 gene. According to GTEx data from 953 donors, it is associated with higher TRAF3 gene activity in multiple tissues, particularly across several brain regions.
Which tissues does rs1131877 affect?
GTEx data shows rs1131877 is associated with increased TRAF3 expression in five brain regions (spinal cord cervical c-1, hypothalamus, cortex, anterior cingulate cortex, and frontal cortex), plus spleen, esophagus mucosa, and thyroid.
Is rs1131877 linked to any diseases?
The research reviewed here does not directly link rs1131877 to a specific disease. The available evidence describes how this variant influences TRAF3 gene expression levels in specific tissues, which is mechanistic data rather than a direct disease association.
What is an eQTL variant and what does rs1131877 do?
An expression quantitative trait locus (eQTL) is a genetic variant that influences how much of a gene's messenger RNA is produced in cells. rs1131877 acts as an eQTL for TRAF3, meaning carriers of the alt allele tend to show higher TRAF3 gene activity in the affected tissues.
How strong is the evidence for rs1131877's effects on TRAF3?
The GTEx evidence comes from 953 donors and all eight tissue associations pass a standard false discovery rate threshold below 5%. However, eQTL findings describe gene regulation rather than disease outcomes, and further research would be needed to establish any clinical relevance.