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Recurrent Miscarriage: Unraveling the Complex Etiology

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Recurrent Miscarriage: Unraveling the Complex Etiology RECURRENT MISCARRIAGE: UNRAVELING THE COMPLEX ETIOLOGY by Courtney Wood Hanna B.Sc., The University of British Columbia, 2006 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY in THE FACULTY OF GRADUATE STUDIES (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) April 2013 © Courtney Wood Hanna, 2013 Abstract Recurrent miscarriage (RM), defined as 3 or more consecutive spontaneous losses of pregnancy before 20 weeks gestation, affects 1-2% of couples and has a complex etiology. Half of miscarriages from RM cases are caused by chromosomal abnormalities in the embryo and while there are several associated maternal factors, underlying causes and clinically relevant biomarkers have been elusive. I hypothesized that genetic and/or epigenetic factors associated with maternal meiotic non-disjunction, reproductive aging and endocrinological profile, or placental functioning will contribute to the etiology of RM. In these case-control studies, I investigated the association between RM and 1) maternal mutations in synaptonemal complex protein 3 (SYCP3), 2) maternal telomere lengths, 3) maternal polymorphisms in genes in the hypothalamus-pituitary-ovarian (HPO) axis and 4) placental DNA methylation patterns. The findings suggest that maternal mutations in SYCP3 and polymorphisms in HPO axis genes may not contribute significantly to risk for RM. No mutations in SYCP3 were identified in women with RM with at least one trisomic conception. While associations between polymorphisms within the estrogen receptor β, activin receptor 1, prolactin receptor and glucocorticoid receptor genes and RM were identified, these were not significant after correction for multiple comparisons. Aspects of chromosomal biology may be important factors in the etiology of RM. Women with RM had significantly shorter telomeres compared to controls, suggesting altered rates of biological aging. In the placental villi of RM samples, there were few differences in DNA methylation at targeted sites when compared to isolated miscarriages and elective terminations. However, gene ontology analysis showed that imprinted genes and immune response pathways were overrepresented among those sites differentially methylated between RM and elective termination placentas. The RM group additionally had an increase in the ii number of outlier cases at a select number of imprinted loci. Furthermore, several placental samples from both cases and controls showed aberrant DNA methylation profiles at many loci investigated, suggesting these samples may have global dysregulation of DNA methylation and/or differences in placental composition/functioning. These studies have improved our understanding of mechanisms involved in RM and will contribute to the direction of future research. iii Preface A version of Chapter 2 has been published. Hanna, C.W., Blair, J.D., Stephenson, M.D. and Robinson, W.P. (2012) Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage. Reproductive BioMedicine Online. 24(2):251-3. I generated the hypothesis and study design with W.P. Robinson, directly supervised summer student J.D. Blair, and personally wrote the manuscript. J.D. Blair contributed equally to this publication by performing data collection, analyzing the results, and editing the manuscript. M.D. Stephenson ascertained patients. W.P. Robinson supervised the research and edited the manuscript. A version of Chapter 3 has been published. Hanna, C.W., Bretherick, K.L., Gair, J.L., Fluker, M.R., Stephenson, M.D. and Robinson, W.P. (2009) Telomere length and reproductive aging. Human Reproduction. 24(5):1206-11. K.L. Bretherick and I contributed equally to the collection of data, analysis of results and preparation of the manuscript. M.R. Fluker and M.D. Stephenson ascertained patients. W.P. Robinson supervised this project, and generated the hypothesis for this work with J.L. Gair. A version of Chapter 4 has been published. Hanna, C.W., Bretherick, K.L., Liu, C.C., Stephenson, M.D. and Robinson, W.P. (2010) Genetic variation in the hypothalamus-pituitary- ovarian axis in women with recurrent miscarriage. Human Reproduction. 25(10):2664-71. I generated the study design, performed ~80% of data collection, analyzed the results, and wrote the manuscript. K.L. Bretherick performed 10% of data collection and assisted with hypothesis formation and manuscript editing. I supervised summer student C.C. Liu in completing the remaining 10% of data collection, in addition to analyzing this subset of the results. M.D. iv Stephenson ascertained patients. W.P. Robinson supervised the research and edited the manuscript. A version of Chapter 5 has been published. Hanna, C.W., McFadden, D.E. and Robinson, W.P. (2013) DNA methylation profiling of placental villi from karyotypically normal miscarriage and recurrent miscarriage. American Journal of Pathology. Epub ahead of print 2013 April 09. I generated the hypothesis and study design with W.P. Robinson, completed all data collection, analyzed the results, and wrote the manuscript. D.E. McFadden ascertained patients and did sample collection. W.P. Robinson additionally supervised the research and edited the manuscript. The collection of the samples for these studies was approved by the University of British Columbia Clinical Research Ethics Board, approval number CO1-0460. Copyright permission was obtained for all published figures, tables and texts. v Table of Contents Abstract .......................................................................................................................................... ii Preface ........................................................................................................................................... iv Table of Contents ......................................................................................................................... vi List of Tables ..................................................................................................................................x List of Figures ............................................................................................................................... xi List of Abbreviations .................................................................................................................. xii Acknowledgements ......................................................................................................................xv Chapter 1: Introduction ...............................................................................................................1 1.1 Aneuploidy in miscarriage .............................................................................................. 1 1.1.1 Oogenesis and meiosis ................................................................................................ 2 1.1.2 Maternal risk for chromosome missegregation........................................................... 4 1.2 Maternal factors associated with recurrent miscarriage.................................................. 6 1.2.1 Chromosomal .............................................................................................................. 6 1.2.2 Anatomical .................................................................................................................. 7 1.2.3 Immunological ............................................................................................................ 7 1.2.3.1 Uterine natural killer cells ................................................................................... 8 1.2.3.2 Maternal T helper 1 and T helper 2 immune balance ......................................... 9 1.2.3.3 Placental immunity ........................................................................................... 10 1.2.3.4 Autoimmunity ................................................................................................... 11 1.2.3.5 Infection ............................................................................................................ 12 1.2.4 Endocrinological ....................................................................................................... 12 1.2.4.1 Luteal phase defects .......................................................................................... 12 vi 1.2.4.2 Thyroid dysfunction .......................................................................................... 13 1.2.4.3 Polycystic ovarian syndrome ............................................................................ 13 1.2.4.4 Endometrial receptivity ..................................................................................... 14 1.2.5 Thrombophilic........................................................................................................... 15 1.2.6 Psychosocial stress .................................................................................................... 16 1.3 Genetic and epigenetic factors contributing to recurrent miscarriage risk ................... 17 1.3.1 Maternal genetic variants .......................................................................................... 17 1.3.1.1 Genes involved in meiosis ................................................................................ 17 1.3.1.2 Genes involved in immune function ................................................................. 18 1.3.1.3 Genes involved in endocrine function .............................................................
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