Expressive

rs1011313 (DTNBP1): Vaginal Microbiome & JARID2

Key takeaways

  • rs1011313 sits near DTNBP1 (dystrobrevin binding protein 1) and appears in a genome-wide study of vaginal bacteria during pregnancy
  • The pregnancy study identified 72 genetic variant and vaginal bacterial trait associations at genome-wide significance, though the specific bacterial trait tied to rs1011313 is not named in the available study text
  • GTEx expression data show the alternate allele of rs1011313 reduces JARID2 gene expression in cultured fibroblasts
  • Evidence for this variant is limited and preliminary given the small study sample and incomplete reporting of variant-specific details

Key takeaways

  • rs1011313 sits near DTNBP1 (dystrobrevin binding protein 1) and appears in a genome-wide study of vaginal bacteria during pregnancy
  • The pregnancy study identified 72 genetic variant and vaginal bacterial trait associations at genome-wide significance, though the specific bacterial trait tied to rs1011313 is not named in the available study text
  • GTEx expression data show the alternate allele of rs1011313 reduces JARID2 gene expression in cultured fibroblasts
  • Evidence for this variant is limited and preliminary given the small study sample and incomplete reporting of variant-specific details

What the research says A genome-wide association study (GWAS) of vaginal bacterial traits in a cohort of 359 pregnant Chinese women found 72 host genetic variant and vaginal bacterial trait (VBT) associations at genome-wide significance (P < 5 x 10^-8), with the majority of significant variants having minor allele frequencies (MAFs, meaning how common the less-frequent version of the variant is in a population) below 0.05; rs1011313 is among the variants in this study though its specific VBT association is not named in the provided text. GTEx v11 expression data (953 donors) link the alternate allele of rs1011313 to reduced JARID2 (Jumonji- and AT-rich interaction domain-containing 2) expression in cultured fibroblasts, with a slope of -0.14 and p=8.5 x 10^-5 GTEx Portal.

Reported associations

  • Vaginal bacterial traits during pregnancy: rs1011313 was examined in a GWAS of pregnant women (n=359) that identified 72 genetic variant and VBT associations at genome-wide significance (P < 5 x 10^-8); the specific bacterial community trait linked to rs1011313 is not described in the available study text, limiting characterization of this association
  • JARID2 gene expression (cultured fibroblasts): the alternate allele is associated with reduced JARID2 expression in cultured fibroblasts (slope -0.14, p=8.5 x 10^-5) GTEx Portal

Evidence quality The vaginal bacteriome GWAS included 359 participants with 16S rRNA microbiome data, a relatively small sample for a GWAS; most genome-wide significant variants had MAFs below 0.05, which reduces statistical power. The cohort was exclusively pregnant Chinese women, so findings may not generalize to other ethnicities or non-pregnant individuals. Because the provided study text does not explicitly name rs1011313 among its highlighted findings, the specific VBT association for this variant is uncharacterized in the available evidence, making any vaginal bacteriome link preliminary and requiring independent replication in larger cohorts before conclusions can be drawn. The GTEx eQTL (expression quantitative trait locus, meaning a genetic variant that predicts how much a gene is expressed) for JARID2 in cultured fibroblasts is based on 953 donors and passes FDR (false discovery rate) < 0.05 GTEx Portal, providing a better-powered expression signal, though its functional significance in living tissue is not established by the available studies.

Tissue-specific expression effects

  • JARID2: the alternate allele of rs1011313 is associated with reduced expression in cultured fibroblasts; no other tissues show a significant eQTL in the available GTEx data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1011313 and where is it located in the genome?

rs1011313 is a genetic variant called a single nucleotide polymorphism (SNP) located near the DTNBP1 gene, also known as dystrobrevin binding protein 1. It has been studied in the context of the vaginal microbiome during pregnancy and in relation to gene expression in fibroblasts.

Is rs1011313 linked to the vaginal microbiome during pregnancy?

A genome-wide association study in pregnant women found 72 genetic variant and vaginal bacterial trait associations at genome-wide significance, and rs1011313 was part of this study. However, the specific bacterial community trait associated with rs1011313 is not named in the available study text, so this link is considered preliminary.

What is JARID2 and how does rs1011313 affect its expression?

JARID2 (Jumonji- and AT-rich interaction domain-containing 2) is a gene involved in regulating the activity of other genes. GTEx expression data show that the alternate allele of rs1011313 is associated with reduced JARID2 expression specifically in cultured fibroblasts, which are skin-derived cells grown in a lab, though the broader biological significance of this finding has not been established by the available studies.

What is DTNBP1?

DTNBP1 stands for dystrobrevin binding protein 1, and it is the gene near which rs1011313 is located. The studies provided do not detail the specific role of DTNBP1 in the associations reported for rs1011313.

How strong is the current evidence for rs1011313?

Evidence is limited and preliminary. The vaginal microbiome GWAS had a small sample of 359 pregnant women and did not explicitly name the bacterial trait association for rs1011313. The GTEx eQTL data from 953 donors is better powered but is restricted to cultured fibroblasts. Independent replication in larger, diverse cohorts would be needed to draw stronger conclusions.