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

Autor: Johanna M Huusko, Minna K Karjalainen, Britney E Graham, Ge Zhang, Emily G Farrow, Neil A Miller, Bo Jacobsson, Haley R Eidem, Jeffrey C Murray, Bruce Bedell, Patrick Breheny, Noah W Brown, Frans L Bødker, Nadia K Litterman, Pan-Pan Jiang, Laura Russell, David A Hinds, Youna Hu, andMe Research Team, Antonis Rokas, Kari Teramo, Kaare Christensen, Scott M Williams, Mika Rämet, Stephen F Kingsmore, Kelli K Ryckman, Mikko Hallman, Louis J Muglia
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: PLoS Genetics, Vol 14, Iss 7, p e1007394 (2018)
Druh dokumentu: article
ISSN: 1553-7390
1553-7404
DOI: 10.1371/journal.pgen.1007394
Popis: 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
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