Expressive

rs11831423 (LINC02823): Pregnancy Vaginal Microbiome

Key takeaways

  • rs11831423 sits near LINC02823 and LINC03130, two non-coding RNA genes that do not produce protein
  • A GWAS of 359 pregnant Chinese women found 72 genetic variant links to vaginal bacterial communities at genome-wide significance
  • The alternate allele is linked to reduced expression of a nearby gene in lung tissue and tibial artery according to GTEx reference data from 953 donors
  • Evidence is preliminary: a single small study with no described independent replication

Key takeaways

  • rs11831423 sits near LINC02823 and LINC03130, two long intergenic non-coding RNA (lincRNA) genes that do not produce protein
  • A genome-wide study of vaginal bacterial communities in 359 pregnant Chinese women found 72 host genetic variant associations at genome-wide significance, and rs11831423 falls within that research context
  • The alternate allele at rs11831423 is linked to reduced expression of a nearby gene (ENSG00000277738) in lung tissue and tibial artery, based on GTEx reference data from 953 donors
  • Evidence for this variant is early-stage, from a single small study without described independent replication

What the research says A genome-wide association study (GWAS) of vaginal bacterial traits (VBTs) in pregnant Chinese women used 16S rRNA bacteriome analysis to identify 72 host genetic variant-VBT associations at genome-wide significance (P < 5 x 10^-8), with a genomic inflation factor (lambda) below 1.1; rs11831423, at the LINC02823-LINC03130 locus, falls within the scope of variants examined. In GTEx reference data from 953 donors, the alternate allele at this variant is linked to reduced expression of ENSG00000277738 in lung tissue (slope -0.28, p=5.1e-5) and tibial artery (slope -0.26, p=8.3e-5) GTEx Portal. The available study text does not name the specific VBT directly linked to rs11831423.

Reported associations

  • Vaginal bacteriome traits during pregnancy: A GWAS of 359 pregnant Chinese women found 72 genome-wide-significant links between host genetic variants and vaginal bacterial traits including community composition, relative abundance, and beta diversity; the particular bacterial trait tied to rs11831423 specifically is not specified in the available study text
  • Gene expression in lung tissue: The alternate allele is associated with reduced expression of ENSG00000277738 in lung tissue (slope -0.28, p=5.1e-5) GTEx Portal
  • Gene expression in tibial artery: The alternate allele is associated with reduced expression of ENSG00000277738 in tibial artery tissue (slope -0.26, p=8.3e-5) GTEx Portal

Evidence quality The primary association evidence comes from a single GWAS cohort of 359 pregnant Chinese women, which is small by GWAS standards; well-powered studies typically require tens of thousands of participants. The analysis maintained a genomic inflation factor below 1.1, indicating acceptable control for population stratification. No independent replication cohort is described in the available study text. The most prominently named variant in that study was rs303212 at the IFIT1 gene, linked to Actinobacteria and Bifidobacteriaceae relative abundance; rs11831423 is among the 72 reported associations but is not highlighted in the available excerpt, suggesting it may represent a lower-priority signal in that dataset. The eQTL findings from GTEx are based on 953 donors with FDR correction applied GTEx Portal, but eQTL data describes molecular expression patterns rather than clinical outcomes. Overall, the evidence for this variant is preliminary and should be interpreted with caution.

Tissue-specific expression effects

  • ENSG00000277738: The alternate allele at this locus is associated with reduced expression of this gene in both lung tissue and tibial artery; these are molecular signals from reference data and do not by themselves indicate clinical disease risk GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What are LINC02823 and LINC03130?

LINC02823 and LINC03130 are long intergenic non-coding RNA (lincRNA) genes, meaning they produce RNA molecules but not proteins. Their precise biological roles are not fully characterized in the available research.

Is rs11831423 linked to vaginal health or pregnancy outcomes?

A genome-wide association study found 72 connections between host genetic variants and vaginal bacterial community traits in pregnant women, and rs11831423 falls within that research context. The specific bacterial trait linked to this exact SNP is not detailed in the available study text.

Why does a variant found in vaginal microbiome research also affect gene expression in the lung?

Genetic variants can influence gene expression in multiple tissues simultaneously. GTEx reference data shows this variant is linked to lower expression of a nearby gene in lung and arterial tissue, which is a molecular signal and not evidence of lung disease risk.

How strong is the evidence for rs11831423?

Evidence is preliminary. The primary study enrolled 359 pregnant Chinese women, which is small for a GWAS. No independent replication is described, and the specific association for rs11831423 is not highlighted in the available study text.