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Preterm birth takes an immense global toll on health and well-being. Although shortened gestation is probably a multifactorial phenomenon, some genetic contribution is likely. Investigators used data from participants in the research arm of a commercial personal genomics program in an attempt to identify single-nucleotide polymorphisms (SNPs) associated with gestational duration. Candidate genes were then tested in a validation set derived from larger birth cohorts enriched for preterm births.
In the initial data set, 8% of 43,568 women had delivered their first live birth prior to 37 completed weeks. Fourteen independent loci were identified as possibly associated with gestational duration or preterm birth (a dichotomous outcome). In the re…