rs12401452 (PLEKHA6): Vaginal Microbiome in Pregnancy
Key takeaways
- rs12401452, near the PLEKHA6 gene, was linked to vaginal bacterial traits in a genome-wide study of 359 pregnant women
- The study found 72 genetic variants significantly associated with vaginal microbiome composition in pregnant Chinese women
- Most significant variants were rare in the study population, with a minor allele frequency below 5%
- Evidence is preliminary and comes from a single small study - independent replication is needed before drawing firm conclusions
Key takeaways
- rs12401452, near the PLEKHA6 gene, was identified in a genome-wide association study of vaginal bacterial traits in pregnant women
- The study enrolled 359 pregnant Chinese women and used 16S rRNA gene sequencing to characterize vaginal microbiome composition
- Across the study, 72 genetic variants reached genome-wide significance (P < 5 x 10^-8) for associations with vaginal bacterial traits
- Evidence for this variant is preliminary, drawn from a single modest-sized cohort, and independent replication is needed before conclusions can be drawn
- No lifestyle or dietary interactions have been reported for this variant
What the research says A genome-wide association study (GWAS) of 359 pregnant Chinese women used 16S rRNA gene sequencing to identify host genetic variants associated with vaginal bacterial traits (VBTs, meaning measured properties of the vaginal microbiome such as the relative abundance of specific bacteria). The study found 72 genetic variants that reached genome-wide significance (P < 5 x 10^-8), with an acceptable genomic inflation factor (a statistical check for artificial inflation of results; lambda < 1.1). rs12401452, in or near the PLEKHA6 locus (pleckstrin homology domain-containing family A member 6), was among the variants identified in this genome-wide sweep of vaginal bacterial associations during pregnancy.
Reported associations
- Vaginal bacterial traits during pregnancy: rs12401452 was identified as one of 72 variants with a genome-wide significant association (P < 5 x 10^-8) with vaginal bacterial traits in 359 pregnant Chinese women; the specific bacterial taxa linked to this locus and precise effect sizes are not described in the available study text
Evidence quality All available evidence for rs12401452 comes from a single GWAS (n = 359) conducted in pregnant Chinese women using 16S rRNA bacteriome analysis. This sample size is modest by GWAS standards, which typically require tens of thousands of participants to reliably detect small genetic effects on complex traits. The study reported a genomic inflation factor (lambda) below 1.1, suggesting the results are not severely distorted by population stratification or other technical confounders. The majority of significant variants in the study carried a low minor allele frequency (MAF), with only 7 of the 72 genome-wide hits having an MAF above 0.05. No replication cohort for this specific variant is described in the available study text, and the findings should be considered preliminary until confirmed in larger, independent studies across diverse populations.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs12401452?
rs12401452 is a genetic variant located near the PLEKHA6 gene. It was identified in a genome-wide association study as one of 72 variants linked to vaginal bacterial traits in pregnant women.
Is rs12401452 linked to vaginal health during pregnancy?
A genome-wide study of 359 pregnant Chinese women found rs12401452 to be significantly associated with vaginal bacterial traits. The evidence is preliminary and comes from a single study, so independent replication is needed before firm conclusions can be drawn.
How reliable is the evidence linking rs12401452 to the vaginal microbiome?
The association was reported in a single GWAS of 359 participants, which is modest by the standards of genetic research. The study's statistical controls appeared sound, but the findings should be considered preliminary until confirmed in larger and more diverse populations.
Does host genetics influence the vaginal microbiome during pregnancy?
This study found that host genetic variants may play a role in shaping vaginal bacterial communities during pregnancy. Across 359 pregnant women, 72 genetic variants reached genome-wide significance for association with vaginal bacterial traits, suggesting a genetic component to microbiome composition.
What is the PLEKHA6 gene?
PLEKHA6 stands for pleckstrin homology domain-containing family A member 6. The available study does not describe this gene's specific biological function in relation to vaginal health or the microbiome.