{"entity": "publication", "iuid": "a54fcff0811145f6946e924649231bf8", "timestamp": "2026-10-14T01:25:46.928Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a54fcff0811145f6946e924649231bf8.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a54fcff0811145f6946e924649231bf8"}}, "title": "Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.", "authors": [{"family": "Kaartokallio", "given": "Tea", "initials": "T"}, {"family": "Wang", "given": "Jingwen", "initials": "J"}, {"family": "Heinonen", "given": "Seppo", "initials": "S"}, {"family": "Kajantie", "given": "Eero", "initials": "E"}, {"family": "Kivinen", "given": "Katja", "initials": "K"}, {"family": "Pouta", "given": "Anneli", "initials": "A"}, {"family": "Gerdhem", "given": "Paul", "initials": "P"}, {"family": "Jiao", "given": "Hong", "initials": "H"}, {"family": "Kere", "given": "Juha", "initials": "J"}, {"family": "Laivuori", "given": "Hannele", "initials": "H"}], "type": "journal article", "published": "2016-07-07", "journal": {"volume": "6", "issn": "2045-2322", "issue": null, "pages": "29085", "title": "Sci Rep", "issn-l": "2045-2322"}, "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\u2009=\u20096118 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.", "doi": "10.1038/srep29085", "pmid": "27384325", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "srep29085"}, {"db": "pmc", "key": "PMC4935848"}], "notes": [], "created": "2017-05-03T13:00:02.106Z", "modified": "2024-01-16T13:48:49.832Z"}