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Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort

Preeclampsia is a complex genetic disease of pregnancy with a heterogenous presentation, unknown cause and potential severe outcomes for both mother and child. Preeclamptic women have increased risk for atherothrombotic cardiovascular disease. We aimed to identify heritabilities and phenotypic corre...

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Autores principales: Thomsen, Liv Cecilie V., Melton, Phillip E., Tollaksen, Kjersti, Lyslo, Ingvill, Roten, Linda T., Odland, Maria L., Strand, Kristin M., Nygård, Ottar, Sun, Chen, Iversen, Ann-Charlotte, Austgulen, Rigmor, Moses, Eric K., Bjørge, Line
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596487/
https://www.ncbi.nlm.nih.gov/pubmed/26259119
http://dx.doi.org/10.1097/HJH.0000000000000696
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author Thomsen, Liv Cecilie V.
Melton, Phillip E.
Tollaksen, Kjersti
Lyslo, Ingvill
Roten, Linda T.
Odland, Maria L.
Strand, Kristin M.
Nygård, Ottar
Sun, Chen
Iversen, Ann-Charlotte
Austgulen, Rigmor
Moses, Eric K.
Bjørge, Line
author_facet Thomsen, Liv Cecilie V.
Melton, Phillip E.
Tollaksen, Kjersti
Lyslo, Ingvill
Roten, Linda T.
Odland, Maria L.
Strand, Kristin M.
Nygård, Ottar
Sun, Chen
Iversen, Ann-Charlotte
Austgulen, Rigmor
Moses, Eric K.
Bjørge, Line
author_sort Thomsen, Liv Cecilie V.
collection PubMed
description Preeclampsia is a complex genetic disease of pregnancy with a heterogenous presentation, unknown cause and potential severe outcomes for both mother and child. Preeclamptic women have increased risk for atherothrombotic cardiovascular disease. We aimed to identify heritabilities and phenotypic correlations of preeclampsia and related conditions in the Norwegian Preeclampsia Family Biobank. METHODS: By applying a variance components model, a total of 493 individuals (from 138 families with increased occurrence of preeclampsia) were classified according to 30 disease-related phenotypes. RESULTS: Of parous women, 75.7% (263/338) had experienced preeclampsia and 35.7% of women with and 22.4% without preeclampsia delivered children small for gestational age (SGA). We identified 11 phenotypes as heritable. The increased occurrence of preeclampsia was reflected by the presence [heritability (H2r) = 0.60)] and severity (H2r = 0.15) of preeclampsia and being born in a preeclamptic pregnancy (H2r = 0.25). Other heritable phenotypes identified included SGA (H2r = 0.40), chronic hypertension (H2r = 0.57), severity of atherothrombotic cardiovascular disease (H2r = 0.31), BMI (H2r = 0.60) and pulmonary disease (H2r = 0.91). The heritable phenotype preeclampsia overlapped with SGA (P = 0.03), whereas pulmonary disease was phenotypically correlated with atherothrombotic cardiovascular disease (P < 0.01), SGA (P = 0.02) and BMI (P = 0.02). CONCLUSION: This is the first study identifying the H2r of a range of health-related conditions in preeclamptic families. Our study demonstrates how refinement of phenotypes leads to better H2r estimation and the identification of a biological relationship between preeclampsia and related traits.
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spelling pubmed-45964872015-10-20 Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort Thomsen, Liv Cecilie V. Melton, Phillip E. Tollaksen, Kjersti Lyslo, Ingvill Roten, Linda T. Odland, Maria L. Strand, Kristin M. Nygård, Ottar Sun, Chen Iversen, Ann-Charlotte Austgulen, Rigmor Moses, Eric K. Bjørge, Line J Hypertens ORIGINAL PAPERS: Pre–eclampsia Preeclampsia is a complex genetic disease of pregnancy with a heterogenous presentation, unknown cause and potential severe outcomes for both mother and child. Preeclamptic women have increased risk for atherothrombotic cardiovascular disease. We aimed to identify heritabilities and phenotypic correlations of preeclampsia and related conditions in the Norwegian Preeclampsia Family Biobank. METHODS: By applying a variance components model, a total of 493 individuals (from 138 families with increased occurrence of preeclampsia) were classified according to 30 disease-related phenotypes. RESULTS: Of parous women, 75.7% (263/338) had experienced preeclampsia and 35.7% of women with and 22.4% without preeclampsia delivered children small for gestational age (SGA). We identified 11 phenotypes as heritable. The increased occurrence of preeclampsia was reflected by the presence [heritability (H2r) = 0.60)] and severity (H2r = 0.15) of preeclampsia and being born in a preeclamptic pregnancy (H2r = 0.25). Other heritable phenotypes identified included SGA (H2r = 0.40), chronic hypertension (H2r = 0.57), severity of atherothrombotic cardiovascular disease (H2r = 0.31), BMI (H2r = 0.60) and pulmonary disease (H2r = 0.91). The heritable phenotype preeclampsia overlapped with SGA (P = 0.03), whereas pulmonary disease was phenotypically correlated with atherothrombotic cardiovascular disease (P < 0.01), SGA (P = 0.02) and BMI (P = 0.02). CONCLUSION: This is the first study identifying the H2r of a range of health-related conditions in preeclamptic families. Our study demonstrates how refinement of phenotypes leads to better H2r estimation and the identification of a biological relationship between preeclampsia and related traits. Lippincott Williams & Wilkins 2015-11 2015-10-07 /pmc/articles/PMC4596487/ /pubmed/26259119 http://dx.doi.org/10.1097/HJH.0000000000000696 Text en Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License, where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially. http://creativecommons.org/licenses/by-nc-nd/4.0
spellingShingle ORIGINAL PAPERS: Pre–eclampsia
Thomsen, Liv Cecilie V.
Melton, Phillip E.
Tollaksen, Kjersti
Lyslo, Ingvill
Roten, Linda T.
Odland, Maria L.
Strand, Kristin M.
Nygård, Ottar
Sun, Chen
Iversen, Ann-Charlotte
Austgulen, Rigmor
Moses, Eric K.
Bjørge, Line
Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title_full Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title_fullStr Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title_full_unstemmed Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title_short Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort
title_sort refined phenotyping identifies links between preeclampsia and related diseases in a norwegian preeclampsia family cohort
topic ORIGINAL PAPERS: Pre–eclampsia
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596487/
https://www.ncbi.nlm.nih.gov/pubmed/26259119
http://dx.doi.org/10.1097/HJH.0000000000000696
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