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Updated: Mar 24, 2026

Efficient Nucleic Acid Extraction and 16S rRNA Gene Sequencing for Bacterial Community Characterization
Published on: April 14, 2016
Genome wide association study of vaginal microbiota genetic diversity in French women
Samuel Alizon1,2, Claire Bernat2,3, Vanina Boué2
1CIRB, INSERM, Collège de France, Université PSL, Centre National de la Recherche Scientifique (CNRS), Paris, Île-de-France, France.
Background:
The composition of the vaginal microbiota is known to be highly structured into five main community state types (CSTs) that are found in all human populations. Several associations between perceived ethnicity and the type of community have been reported but analyses of human genetic data, especially genome wide association studies (GWAS), remain limited and mostly rely on phenotypic traits rather than microbial DNA data.
Methods:
Analysing genotyping data from in 168 women from the PAPCLEAR cohort study in France, we perform a GWAS looking for human genetic polymorphisms associated with vaginal microbiota community composition. For the latter, we use Simpson diversity and community state type (CST) as summary statistics to summarise 16S RNA metabarcoding data.
Results:
We show that inverse Simpson diversity is the trait related to the vaginal microbiota that is best explained by the human genome. Furthermore, we identify several genomic regions associated with variations in this trait and show that the covariates associated with vaginal microbiota composition do not correlate with these genetic variants.
Conclusion:
This is one of the first GWAS to use microbial genetic data instead of symptoms to characterise the vaginal microbiota. However, it remains limited because of the size of our cohort and our results call for more powered studies in terms of participants and genome coverage.
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Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...