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Exome sequencing in...
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants
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Kaartokallio, T (författare)
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- Wang, JW (författare)
- Karolinska Institutet
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Heinonen, S (författare)
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Kajantie, E (författare)
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Kivinen, K (författare)
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Pouta, A (författare)
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- Gerdhem, P (författare)
- Karolinska Institutet
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- Jiao, H (författare)
- Karolinska Institutet
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- Kere, J (författare)
- Karolinska Institutet
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Laivuori, H (författare)
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(creator_code:org_t)
- 2016-07-07
- 2016
- Engelska.
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 29085-
- Relaterad länk:
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https://www.nature.c...
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http://kipublication...
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https://doi.org/10.1...
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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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- art (ämneskategori)
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- Av författaren/redakt...
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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
-
visa färre...
- Artiklar i publikationen
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Scientific repor ...
- Av lärosätet
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Karolinska Institutet