Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants

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Kaartokallio , T , Wang , J , Heinonen , S T , Kajantie , E , Kivinen , K , Pouta , A , Gerdhem , P , Jiao , H , Kere , J & Laivuori , H 2016 , ' Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants ' , Scientific Reports , vol. 6 , 29085 . https://doi.org/10.1038/srep29085

Title: Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants
Author: Kaartokallio, Tea; Wang, Jingwen; Heinonen, Seppo Tapani; Kajantie, Eero; Kivinen, Katja; Pouta, Anneli; Gerdhem, Paul; Jiao, Hong; Kere, Juha; Laivuori, Hannele
Contributor organization: Medicum
Pregnancy and Genes
Department of Medical and Clinical Genetics
Department of Obstetrics and Gynecology
Children's Hospital
Lastentautien yksikkö
Research Programs Unit
Juha Kere / Principal Investigator
Research Programme for Molecular Neurology
Institute for Molecular Medicine Finland
HUS Gynecology and Obstetrics
Date: 2016-07-07
Language: eng
Number of pages: 9
Belongs to series: Scientific Reports
ISSN: 2045-2322
DOI: https://doi.org/10.1038/srep29085
URI: http://hdl.handle.net/10138/165050
Abstract: Pre-eclampsia is a common pregnancy disorder that is a major cause for maternal and perinatal mortality and morbidity. Variants predisposing to pre-eclampsia might be under negative evolutionary selection that is likely to keep their population frequencies low. We exome sequenced samples from a hundred Finnish pre-eclamptic women in pools of ten to screen for low-frequency, large-effect risk variants for pre-eclampsia. After filtering and additional genotyping steps, we selected 28 low-frequency missense, nonsense and splice site variants that were enriched in the pre-eclampsia pools compared to reference data, and genotyped the variants in 1353 pre-eclamptic and 699 non-pre-eclamptic women to test the association of them with pre-eclampsia and quantitative traits relevant for the disease. Genotypes from the SISu project (n = 6118 exome sequenced Finnish samples) were included in the binary trait association analysis as a population reference to increase statistical power. In these analyses, none of the variants tested reached genome-wide significance. In conclusion, the genetic risk for pre-eclampsia is likely complex even in a population isolate like Finland, and larger sample sizes will be necessary to detect risk variants.
3111 Biomedicine
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion

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