Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data

). Haplotypes containing the risk allele at rs57480735 were significantly associated with sPTB. Transethnic replication study identified 212 SNPs that were associated with sPTB in both Indian and European cohorts. Integration of genotype, DNA methylation, gene expression, and clinical data revealed that transethnic variants majorly alter the methylation and/or expression of inflammatory genes, whereas the population-specific variants affect genes involved in placental bed formation. Finally, we identified a combination of 66 SNPs using machine learning that predicted sPTB (area under the curve AUC: 0.78) and can be further used for risk stratification.