Cargando…
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...
Autores principales: | , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1782393777461133312 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4596487 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT thomsenlivceciliev refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT meltonphillipe refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT tollaksenkjersti refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT lysloingvill refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT rotenlindat refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT odlandmarial refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT strandkristinm refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT nygardottar refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT sunchen refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT iversenanncharlotte refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT austgulenrigmor refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT moseserick refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort AT bjørgeline refinedphenotypingidentifieslinksbetweenpreeclampsiaandrelateddiseasesinanorwegianpreeclampsiafamilycohort |