PTB-associated ancestry variants identification through genome-wide analysis

This study is a genome-wide association study analysis on 1,349 cases of preterm birth (PTB) and 12,595 ancestry-matched controls. Over 2 million single nucleotide polymorphisms (SNPs) were tested for associations with PTB across five subpopulations: Africa (AFR), the Americas (AMR), Europe (EUR), South Asia (SAS), and East Asia (EAS). Two intergenic loci were associated with PTB at a genome-wide level of significance: rs17591250 (P=4.55E-09) on chromosome 1 in the AFR population and rs1979081 (P=3.72E-08) on chromosome 8 in the AMR group. Several existing replication cohorts were queried and no support of these associations were found.