The high prevalence of reproductive disorders and infertility affects 10–15% of couples worldwide with a very similar contribution from both genders. Female infertility (FI) has a complex multifactorial origin. Hundreds of genes are involved in sex determination, gametogenesis, fertilization, hormonal interactions, and embryo implantation and its early development. Failure/dysfunction in each stage could be related to genetic origins. In addition to DNA sequence variations, non-coding RNAs and epigenetic modifications could be associated with FI. Chromosomal aberrations are a known cause of premature ovarian insufficiency (POI) and recurrent miscarriages. POI is highly clinically heterogeneous and is associated with ovarian dysgenesis. There has been some progress in understanding the role of some genes in common multifactorial disorders such as polycystic ovary syndrome (PCOS) and endometriosis, each affecting around 10% of women with female infertility/subfertility. There have also been advances in pharmacogenomics research, certainly the identification of genetic variations related to the individual response to controlled ovarian hyperstimulation. Even with endometriosis, PCOS, and POI as the most common causes of FI unrevealed parts of genetic contribution seems to be still more than the revealed ones.
The aim of this Research Topic is to provide novel evidence and summarize existing data on the (epi)genetics of FI for a comprehensive understanding of the etiology and pathogenesis of FI, facilitating the development of targeted diagnostic and therapeutic strategies. In addition, we are interested in highlighting gaps that have not been addressed by any of the existing studies or research in this field.
Submissions of the following types of articles are welcomed: Original Research, Systematic Review, Methods, Review, Mini Review, Perspective, Clinical Trial, Case Report, Brief Research Report, General Commentary, and Opinion. These could include (but will not be limited to) the following:
1. (epi)Genetics of common causes of FI like endometriosis, PCOS, and POI
2. Molecular cytogenetic causes of FI
3. Maternal (epi)genetic factors in fertilization and implantation failure
4. Maternal (epi)genetic factors in recurrent miscarriage
5. Mitochondria and genetics of FI
6. (epi)Genetic developmental defects in female reproductive organs
7. Implementation of genetic tools in clinical FI practice
8. Pharmacogenetics and FI
9. Organoid technology in understanding (epi)genetics of FI
Case Reports must adhere to journal specific article type requirements. These can be found
here.