Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

ABSTRACT: Preterm birth is a leading cause of morbidity and mortality in infants. Genetic and environmental factors play a role in the susceptibility to preterm birth, but despite many investigations, the genetic basis for preterm birth remain largely unknown. Our objective was to identify rare, possibly damaging, nucleotide variants in mothers from families with recurrent spontaneous preterm births (SPTB). DNA samples from 17 Finnish mothers who delivered at least one infant preterm were subjected to whole exome sequencing. All mothers were of northern Finnish origin and were from seven multiplex families. Additional replication samples of European origin consisted of 93 Danish sister pairs (and two sister triads), all with a history of a preterm delivery. Rare exonic variants (frequency <1%) were

SUBMITTER: Huusko JM 

PROVIDER: S-EPMC6042692 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature