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

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http://hdl.handle.net/10138/239259

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23me Res Team 2018 , ' Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth ' , PLoS Genetics , vol. 14 , no. 7 , 1007394 . https://doi.org/10.1371/journal.pgen.1007394

Title: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Author: 23me Res Team
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Date: 2018-07
Language: eng
Number of pages: 22
Belongs to series: PLoS Genetics
ISSN: 1553-7404
DOI: https://doi.org/10.1371/journal.pgen.1007394
URI: http://hdl.handle.net/10138/239259
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
Subject: HEAT-SHOCK PROTEINS
MOLECULAR CHAPERONES
GLUCOCORTICOID-RECEPTOR
GESTATIONAL-AGE
DISEASE
GENOME
ASSOCIATION
VARIANTS
PHOSPHORYLATION
DISCOVERY
3111 Biomedicine
1184 Genetics, developmental biology, physiology
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