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Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants
- Kaartokallio, T (författare)
-
- Wang, JW (författare)
- Karolinska Institutet
- Heinonen, S (författare)
- visa fler...
- Kajantie, E (författare)
- Kivinen, K (författare)
- Pouta, A (författare)
- Laivuori, H (författare)
- visa färre...
- (creator_code:org_t)
- 2016-07-07
- 2016
- Engelska.
- Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 29085-
- Tidskriftsartikel (refereegranskat)
Abstract
Ämnesord
Stäng
- 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.
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- Kaartokallio, T
- Wang, JW
- Heinonen, S
- Kajantie, E
- Kivinen, K
- Pouta, A
- visa fler...
- Gerdhem, P
- Jiao, H
- Kere, J
- Laivuori, H
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- Karolinska Institutet
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