Identification of Pre-eclampsia susceptibility genes

Dnyanada Shrirang Gokhale-Agashe

Research output: ThesisDoctoral Thesis

Abstract

This thesis aimed to identify susceptibility genes contributing to Preeclampsia, a pregnancy specific disorder. Preeclampsia has a strong genetic component (heritability 50%) and affects 5-8% of all women worldwide. This is the first study to use paired-end whole genome sequencing data and a family based study design to identify rare and novel variants in preeclamptic women. A targeted sequencing study of a candidate susceptibility gene (RGS5) was also carried out in this thesis. The findings of this thesis lend further support to the role of Type IV Collagens and RGS5 in the pathophysiology of Preeclampsia.
LanguageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Moses, Eric, Supervisor
  • Melton, Philip E, Supervisor, External person
  • Abraham, Lawrence Joseph, Supervisor
  • Schlaich, Markus, Supervisor
Thesis sponsors
Award date19 Mar 2018
DOIs
StateUnpublished - 2018

Fingerprint

Pre-Eclampsia
Genes
Collagen Type IV
Genome
Pregnancy

Cite this

Gokhale-Agashe, Dnyanada Shrirang. / Identification of Pre-eclampsia susceptibility genes. 2018.
@phdthesis{70d2f9faae2f46d78cc024bdbd93e23e,
title = "Identification of Pre-eclampsia susceptibility genes",
abstract = "This thesis aimed to identify susceptibility genes contributing to Preeclampsia, a pregnancy specific disorder. Preeclampsia has a strong genetic component (heritability 50{\%}) and affects 5-8{\%} of all women worldwide. This is the first study to use paired-end whole genome sequencing data and a family based study design to identify rare and novel variants in preeclamptic women. A targeted sequencing study of a candidate susceptibility gene (RGS5) was also carried out in this thesis. The findings of this thesis lend further support to the role of Type IV Collagens and RGS5 in the pathophysiology of Preeclampsia.",
keywords = "Pre-eclampsia, Whole Genome Sequencing, Next generation sequencing (NGS), copy number variations, collagen genes, family based sequencing study, Regulator of G-protein signalling 5, rare variants",
author = "Gokhale-Agashe, {Dnyanada Shrirang}",
year = "2018",
doi = "10.4225/23/5abc48e7391bc",
language = "English",
school = "The University of Western Australia",

}

Gokhale-Agashe, DS 2018, 'Identification of Pre-eclampsia susceptibility genes', Doctor of Philosophy, The University of Western Australia. DOI: 10.4225/23/5abc48e7391bc

Identification of Pre-eclampsia susceptibility genes. / Gokhale-Agashe, Dnyanada Shrirang.

2018.

Research output: ThesisDoctoral Thesis

TY - THES

T1 - Identification of Pre-eclampsia susceptibility genes

AU - Gokhale-Agashe,Dnyanada Shrirang

PY - 2018

Y1 - 2018

N2 - This thesis aimed to identify susceptibility genes contributing to Preeclampsia, a pregnancy specific disorder. Preeclampsia has a strong genetic component (heritability 50%) and affects 5-8% of all women worldwide. This is the first study to use paired-end whole genome sequencing data and a family based study design to identify rare and novel variants in preeclamptic women. A targeted sequencing study of a candidate susceptibility gene (RGS5) was also carried out in this thesis. The findings of this thesis lend further support to the role of Type IV Collagens and RGS5 in the pathophysiology of Preeclampsia.

AB - This thesis aimed to identify susceptibility genes contributing to Preeclampsia, a pregnancy specific disorder. Preeclampsia has a strong genetic component (heritability 50%) and affects 5-8% of all women worldwide. This is the first study to use paired-end whole genome sequencing data and a family based study design to identify rare and novel variants in preeclamptic women. A targeted sequencing study of a candidate susceptibility gene (RGS5) was also carried out in this thesis. The findings of this thesis lend further support to the role of Type IV Collagens and RGS5 in the pathophysiology of Preeclampsia.

KW - Pre-eclampsia

KW - Whole Genome Sequencing

KW - Next generation sequencing (NGS)

KW - copy number variations

KW - collagen genes

KW - family based sequencing study

KW - Regulator of G-protein signalling 5

KW - rare variants

U2 - 10.4225/23/5abc48e7391bc

DO - 10.4225/23/5abc48e7391bc

M3 - Doctoral Thesis

ER -