rs12241389 (INPP5A): Vaginal Microbiome in Pregnancy
Key takeaways
- A variant near the INPP5A gene was associated with vaginal bacterial community patterns in a genome-wide study of pregnant women.
- The study identified 72 genetic variant associations with vaginal bacterial traits at genome-wide significance in 359 pregnant Chinese women.
- Most significant variants in the study were uncommon, with minor allele frequencies below 0.05.
- Evidence is from a single, small study of a specific population and should be considered preliminary.
Key takeaways
- A variant near the INPP5A gene was associated with vaginal bacterial community patterns in a genome-wide study of pregnant women.
- The study identified 72 genetic variant associations with vaginal bacterial traits at genome-wide significance in 359 pregnant Chinese women.
- Most significant variants in the study were uncommon, with minor allele frequencies below 0.05.
- Evidence is from a single, small study of a specific population and should be considered preliminary.
What the research says A genome-wide association study (GWAS) of 359 pregnant Chinese women used 16S rRNA sequencing to characterize vaginal bacterial communities and identified 72 associations between genetic variants and vaginal bacterial traits (VBTs) at genome-wide significance (P < 5 x 10^-8), with a genomic inflation factor (lambda, a measure of potential confounding from population structure) below 1.1. Of the 72 significant associations, the majority had a minor allele frequency (MAF, the proportion of the variant in the population studied) below 0.05, with only 7 exceeding this threshold. rs12241389 at the INPP5A locus was among the identified associations; however, specific VBT details and effect sizes for this locus are not available in the provided study excerpt.
Reported associations
- Vaginal bacterial traits (pregnancy): rs12241389 was one of 72 genetic variant-VBT associations reaching genome-wide significance (P < 5 x 10^-8) in 359 pregnant Chinese women; the specific bacterial measure(s) linked to this locus are not detailed in the available study excerpt.
Evidence quality Evidence for rs12241389 comes from a single GWAS (n = 359 pregnant Chinese women), which is a relatively small sample by genome-wide study standards. The reported lambda (< 1.1) suggests the findings are not substantially inflated by population stratification. No independent replication cohort is described in the available text, and the study population is restricted to Chinese women during pregnancy, limiting generalizability to other ethnicities or non-pregnant individuals. Effect sizes specific to this locus are not reported in the available excerpt. The association should be considered preliminary until confirmed by independent, larger cohorts.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs12241389 associated with?
rs12241389, located near the INPP5A gene, was identified as one of 72 genetic variants associated with vaginal bacterial community traits in a genome-wide study of 359 pregnant Chinese women. The specific bacterial community measure it influences is not detailed in the available study text.
What does the INPP5A gene do?
The study that identified rs12241389 does not describe the specific biological function of INPP5A in relation to the vaginal microbiome. The association was detected through a genome-wide scan rather than a hypothesis-driven candidate gene approach.
How strong is the evidence for rs12241389?
The evidence is preliminary. It comes from a single genome-wide study of 359 pregnant Chinese women, which is a relatively small sample for this type of research. Independent replication in larger or more diverse populations has not been reported in the available data.
Is the vaginal microbiome influenced by genetics?
A genome-wide study found 72 genetic variant associations with vaginal bacterial traits at genome-wide significance (P < 5 x 10^-8) in pregnant women, suggesting that human genetic variants may help shape the vaginal bacterial ecosystem during pregnancy.