Decoding genetic associations of female reproductive health traits

Thesis event information

Date and time of the thesis defence

Place of the thesis defence

Room No. 105, 23B Riia St., Tartu, Estonia

Topic of the dissertation

Decoding genetic associations of female reproductive health traits

Doctoral candidate

Doctor of Philosophy Natàlia Pujol Gualdo

Faculty and unit

University of Oulu Graduate School, Faculty of Medicine, Research Unit of Clinical Medicine

Subject of study

Reproductive genomics


Docent Ilkka Kalliala, University of Helsinki


Professor Maia Kivisaar, Institute of Molecular and Cell Biology, University of Tartu

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Decoding genetic associations of female reproductive health traits

Genetic variation, particularly single-nucleotide polymorphisms (SNPs), has shown to influence health and disease susceptibility for multiple complex diseases. This has been supported by many genome-wide association studies (GWAS) which have unravelled thousands of genetic variants in association with health traits. However, studies of genetic variation underlying female reproductive health traits remain limited, with only a small proportion of all GWAS focusing on this area. Currently, the availability of population-based biobanks, such as the Estonian Biobank, and population-based birth cohorts such as the Northern Finland Birth Cohort 1966, provide a valuable framework for studies in this field. Additionally, GWAS set the ground to move from genetic variations to potentially affected genes, proteins, biological pathways and tissues, serving as a foundation for forming hypotheses that can be validated through functional experiments. Understanding the genetic variation that is associated with a trait is important as it can provide insights into disease aetiology, prediction, and potential treatments. Another notable outcome of GWAS is the construction of polygenic risk scores (PRS), which provide a summary of an individual's genetic predisposition for a certain trait. PRS has the potential to predict disease susceptibility and serve as a tool to further explore disease biology, for example, relationships with a certain trait’s comorbidities. PRS have attracted massive attention in the pursuit of the so-called personalised medicine. This thesis aims to decode the genetic underpinnings of selected female reproductive health traits through GWAS and explores PRS as a tool for both risk stratification and for informing a trait’s biology. In conclusion, this research, placed at the intersection of genomics and female reproductive health, is poised to address a knowledge gap in both national and international research systems through the availability of large genomic datasets coupled with electronic health records (EHRs) and biological measurements.
Last updated: 20.5.2024