Expressive

rs10174880 (KLHL23): vaginal bacteriome variant

Key takeaways

  • rs10174880 near KLHL23 was studied in a genome-wide scan linking host genetics to vaginal bacterial communities in pregnant women
  • Its alternate allele is linked to increased CFAP210 expression in thyroid, tibial nerve, hippocampus, and testis
  • The same allele raises CYB5AP2 levels in brain cerebellum and boosts expression of an uncharacterized gene (ENSG00000307322) in digestive and nerve tissues
  • The bacteriome GWAS used 359 pregnant Chinese women, so findings may not extend to other populations

Key takeaways

  • rs10174880 near KLHL23 was studied in a genome-wide scan linking host genetics to vaginal bacterial communities in pregnant women
  • Its alternate allele is linked to increased CFAP210 expression in thyroid, tibial nerve, hippocampus, and testis
  • The same allele raises CYB5AP2 levels in brain cerebellum and boosts expression of an uncharacterized gene (ENSG00000307322) in digestive and nerve tissues
  • The bacteriome GWAS used 359 pregnant Chinese women, so findings may not extend to other populations

What the research says A genome-wide association study (GWAS) of vaginal bacterial traits (VBTs) in 359 pregnant Chinese women identified 72 significant host genetic variant-VBT associations (p < 5 x 10^-8, genomic inflation factor lambda < 1.1); this locus was among the variants examined in that cohort. GTEx v11 eQTL analysis (953 donors, FDR < 0.05) shows that the alternate allele increases CFAP210 expression in thyroid, tibial nerve, brain hippocampus, and testis, and raises CYB5AP2 expression in brain cerebellum GTEx Portal. The same allele also elevates expression of the uncharacterized gene ENSG00000307322 in esophagus muscularis, tibial nerve, and colon transverse GTEx Portal.

Reported associations

  • Vaginal bacteriome (pregnant women): This locus was examined in a GWAS identifying 72 genome-wide significant associations with vaginal bacterial traits in 359 pregnant Chinese women; the specific bacterial trait linked to this variant is not detailed in the available study excerpt
  • CFAP210 expression: The alternate allele is associated with increased expression in thyroid (slope +0.37, p=2.4e-12), tibial nerve (slope +0.37, p=2.2e-9), brain hippocampus (slope +0.33, p=4.9e-5), and testis (slope +0.20, p=1.4e-10) GTEx Portal
  • CYB5AP2 expression: The alternate allele is associated with increased expression in brain cerebellum (slope +0.53, p=2.0e-5) GTEx Portal
  • ENSG00000307322 expression: The alternate allele is associated with increased expression in esophagus muscularis (slope +0.32, p=1.4e-5), tibial nerve (slope +0.31, p=7.4e-8), and colon transverse (slope +0.30, p=7.2e-5) GTEx Portal

Evidence quality The vaginal bacteriome GWAS enrolled 359 pregnant Chinese women, a modest sample size for a GWAS, and the results have not been independently replicated based on the available evidence. The study reports a genomic inflation factor below 1.1, indicating acceptable control for population stratification. The study metadata does not include a PubMed ID in the available record, and the provided text does not name which of the 72 significant VBT associations corresponds to this locus, so the specific bacteriome association cannot be confirmed from the available material. GTEx eQTL associations are derived from 953 donors and meet FDR < 0.05, providing well-powered expression data, though eQTL findings reflect gene regulatory mechanisms rather than clinical outcomes. The GTEx expression effects are consistent across multiple tissues and reach stringent significance thresholds, lending them greater confidence than the unreplicated GWAS finding.

Tissue-specific expression effects

  • CFAP210: The alternate allele is associated with increased expression in thyroid, tibial nerve, brain hippocampus, and testis GTEx Portal
  • CYB5AP2: The alternate allele is associated with increased expression in brain cerebellum GTEx Portal
  • ENSG00000307322: The alternate allele is associated with increased expression in esophagus muscularis, tibial nerve, and colon transverse GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10174880?

rs10174880 is a genetic variant located near the KLHL23 gene. It has been examined in a genome-wide study of vaginal bacterial communities in pregnant women, and GTEx data show it influences expression of several nearby genes across multiple tissues including brain, nerve, and thyroid.

What is the KLHL23 gene?

KLHL23 is a gene near rs10174880. The available study data does not describe its function in detail; this genomic region has been studied in the context of vaginal bacterial traits in pregnant women and shows regulatory effects on neighboring genes.

Is rs10174880 linked to vaginal microbiome changes?

rs10174880 was included in a GWAS that identified 72 genetic variant associations with vaginal bacterial traits at genome-wide significance in 359 pregnant Chinese women. The specific bacterial trait linked to this variant is not specified in the available study excerpt, so the nature of this particular association remains unclear from the current evidence.

What does GTEx data show for rs10174880?

GTEx v11 data show that the alternate allele at rs10174880 is linked to increased expression of CFAP210 in thyroid, tibial nerve, hippocampus, and testis; increased CYB5AP2 in brain cerebellum; and increased expression of an uncharacterized gene in esophagus, tibial nerve, and colon. These are regulatory effects on gene expression, not direct clinical outcomes.

What is CFAP210 and why does it matter here?

CFAP210 is a gene whose expression is influenced by the rs10174880 variant. GTEx data show the alternate allele increases CFAP210 levels in thyroid, tibial nerve, hippocampus, and testis, making it one of the strongest tissue-level signals associated with this locus.