Expressive

rs115217366 (EBF1 / LINC02227): Gut Microbiota GWAS

Key takeaways

  • This variant near EBF1 and LINC02227 was identified in a gut microbiota genetics study of nearly 6,000 Finnish individuals.
  • The alternate allele is linked to reduced expression of a brain gene called UBLCP1 in both the brain caudate and cortex.
  • The gut microbiota study found 567 genome-wide significant links between genetic variants and specific bacterial species across the full cohort.
  • Evidence is preliminary and from a single cohort; the specific gut bacterium linked to this locus is not named in available sources.

Key takeaways

  • This variant near EBF1 (a transcription factor gene) and LINC02227 (a long intergenic non-coding RNA) was identified in a gut microbiota genetics study of nearly 6,000 Finnish individuals.
  • The alternate allele is linked to reduced expression of UBLCP1, a gene expressed in brain tissue, in both the brain caudate and cortex.
  • The gut microbiota study found 567 genome-wide significant links between genetic variants and specific bacterial species across the full cohort.
  • Evidence is preliminary and from a single cohort; the specific gut bacterium linked to this locus is not named in available sources.

What the research says A gut microbiota genome-wide association study (GWAS, a technique scanning millions of genetic variants for associations with measured traits) of the FINRISK 2002 Finnish cohort (n = 5,959) identified 567 independent variant-to-taxon associations at genome-wide significance (p < 5.0 x 10^-8) across 411 loci spanning 11 bacterial phyla, with this locus among those in the reported study context. Tissue-level expression data independently show the alternate allele reduces UBLCP1 expression in brain caudate and cortex tissue GTEx Portal. The connection between any gut microbiota signal at this locus and the brain expression effect is not established in the provided evidence.

Reported associations

  • Gut microbial composition: This locus appears in a GWAS of microbial taxon abundances spanning 11 bacterial phyla in 5,959 Finnish individuals; the specific taxon linked to this variant is not named in the available study text.
  • UBLCP1 brain expression: The alternate allele is associated with reduced UBLCP1 expression in Brain Caudate basal ganglia (eQTL slope -0.54, p = 1.0e-4) and Brain Cortex (eQTL slope -0.48, p = 5.2e-6) GTEx Portal.

Evidence quality The gut microbiota association derives from a single Finnish cohort (FINRISK 2002, n = 5,959) using a genome-wide significance threshold of p < 5.0 x 10^-8. The study reports microbial heritability ranging from h2 = 0.001 to 0.214 across all tested taxa, but no heritability or effect size specific to this locus is available in the provided excerpt. Independent replication of the association at this locus has not been described in the provided literature, making this evidence preliminary. The GTEx eQTL signals for UBLCP1 in brain tissue are derived from 953 donors at FDR < 0.05, providing a stronger statistical basis for the expression finding, but whether reduced UBLCP1 expression connects to any gut microbiota signal or clinical outcome is not established in the available sources GTEx Portal.

Tissue-specific expression effects

  • UBLCP1: The alternate allele is associated with reduced expression in both the Brain Caudate basal ganglia and the Brain Cortex; the cortex association is more significant (p = 5.2e-6) than the caudate association (p = 1.0e-4) GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs115217366?

rs115217366 is a genetic variant located near the LINC02227 and EBF1 genes. It was identified in the context of a large genome-wide study examining how human genetic variation shapes gut microbiota composition in a Finnish cohort of nearly 6,000 people.

What is the EBF1 gene?

EBF1 stands for Early B-Cell Factor 1, a transcription factor gene. The variant rs115217366 sits in the genomic region near EBF1, which is how the locus gets its name.

Is rs115217366 linked to gut bacteria?

It appears in a gut microbiota GWAS of 5,959 Finnish individuals that found 567 independent links between genetic variants and bacterial species spanning 11 phyla. The specific bacterium associated with this variant is not detailed in the available study materials.

What does this variant do to UBLCP1?

Tissue expression data show that the alternate allele of rs115217366 is associated with reduced UBLCP1 expression in two brain regions, the caudate basal ganglia and the cortex. Whether this expression change has any functional or clinical consequences is not established from the available evidence.

How reliable is the evidence for this variant?

Evidence comes from a single cohort of about 6,000 Finnish people and should be considered preliminary. Independent replication of the specific gut microbiota association has not been described in the provided literature.