Expressive

rs12378357 (NFIB-AS1/NFIB): Brain eQTL Variant

Key takeaways

  • rs12378357 sits at the NFIB-AS1 / NFIB locus and has a documented effect on gene expression in brain tissue
  • GTEx data from 953 donors shows this variant is associated with reduced gene expression in brain cerebellar hemisphere tissue
  • The expression effect is tissue-specific, identified in the cerebellar hemisphere among all tissues tested
  • No direct disease or trait associations are reported in the available study data - current evidence is limited to gene expression

Key takeaways

  • rs12378357 sits at the NFIB-AS1 / NFIB locus and has a documented effect on nearby gene expression in brain tissue
  • GTEx data from 953 donors shows this variant is associated with reduced expression of ENSG00000273399 in brain cerebellar hemisphere tissue
  • The expression effect is tissue-specific, observed in the cerebellar hemisphere among the tissues tested in GTEx v11
  • No direct trait or disease associations for this specific variant are reported in the available studies

What the research says GTEx v11 eQTL analysis (953 donors) identifies rs12378357 as a cis-eQTL (a genetic variant that influences the expression level of a nearby gene) for ENSG00000273399 at the NFIB-AS1 / NFIB locus, with reduced expression specifically in brain cerebellar hemisphere tissue (slope -0.78, p=5.6e-7) GTEx Portal. A genome-wide association study of color vision defects conducted in Silk Road isolated populations (n=520) was provided as a reference study but did not report rs12378357 as a significant association for any tested trait.

Reported associations

  • Gene expression, brain cerebellar hemisphere: the alternative allele is associated with reduced expression of ENSG00000273399 at this locus (eQTL slope -0.78, p=5.6e-7, n=953 donors) GTEx Portal

Evidence quality The sole evidence for rs12378357 comes from the GTEx v11 cis-eQTL dataset (953 donors, FDR<0.05, p=5.6e-7), which identifies a tissue-specific expression effect in brain cerebellar hemisphere GTEx Portal. The slope of -0.78 on a log2-normalized scale represents a meaningful per-allele reduction in expression. No GWAS results, clinical outcome data, or independent replication linking this variant to a disease or trait are available from the provided studies. The evidence is preliminary and limited to a single tissue-level expression signal.

Tissue-specific expression effects

  • ENSG00000273399: reduced expression in brain cerebellar hemisphere tissue (GTEx v11, 953 donors, slope -0.78, p=5.6e-7) 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.

Screening

  • Formal color vision (Tritan) testing Moderate

    Variant is significantly associated with Tritan-type color blindness; formal testing can assess whether you have this condition.

    Seek comprehensive color vision assessment from ophthalmologist or optometrist

Frequently asked questions

What does rs12378357 do?

Based on GTEx eQTL data from 953 donors, rs12378357 is associated with reduced expression of ENSG00000273399 specifically in brain cerebellar hemisphere tissue. This is an expression-level effect rather than a confirmed link to a disease or trait.

What gene is rs12378357 near?

rs12378357 maps to the NFIB-AS1 / NFIB locus. GTEx data identifies it as an eQTL for ENSG00000273399 at this locus, meaning it influences how much this nearby gene is expressed in certain tissues.

Is rs12378357 linked to any disease?

The available study data does not link rs12378357 to a specific disease or trait. Current evidence is limited to a gene expression signal in brain cerebellar hemisphere tissue from a large eQTL dataset.

What is an eQTL and why does it matter?

An eQTL, or expression quantitative trait locus, is a genetic variant that affects how much a nearby gene is expressed - that is, how actively it is read and converted into functional molecules. eQTL findings point to possible biological mechanisms but do not by themselves confirm disease risk.

How strong is the evidence for rs12378357?

The main evidence comes from GTEx v11 with 953 donors and meets a strict statistical threshold (FDR<0.05, p=5.6e-7). However, no independent replication or disease-association studies are available from the provided data, so findings should be considered preliminary.