The influence of female fertility on health, population growth, and the rate of population aging is a significant cause for worry. A woman's reproductive life span, age-specific fertility rates, and the likelihood of having twins are all factors that might influence her fertility. Fertility can also be affected by factors such as developmental programming, environmental exposures, and lifestyle choices, as well as prevalent disorders such as PCOS and endometriosis. Rare mutations in some genes can give rise to prevalent illnesses and features, but more commonly, variation can be found in a wide variety of locations throughout the genome. Genome-wide association studies (GWAS), which led to the discovery of novel genes and pathways that influence certain characteristics and diseases, have fundamentally altered our knowledge of the manner in which genes contribute to the complex traits and diseases that we observe. This research is being conducted at a time when demographic shifts are taking place, including a reduction in the average age at which girls reach menarche and a trend among women in many nations toward postponing childbirth. Variations in reproductive longevity are linked to a wide variety of diseases and health conditions. It is absolutely necessary to do in-depth research on the genetic foundation of female fertility in order to comprehend the variations in female fertility that occur and to either avoid or cure conditions that contribute to decreased fertility.
Recent genetic studies have made significant progress in understanding the genetic factors contributing to variations in traits and diseases affecting female fertility. These studies reveal shared biological pathways linking puberty timing, fertility, reproductive aging, and health outcomes. However, the effect sizes for common variants are small, and large studies are essential to identify a substantial fraction of common variants underlying variation. Large studies are needed to identify specific genes and pathways regulating variation in traits and diseases, but definitive evidence for causal variants and target genes remains limited. To provide functional evidence for specific genes and pathways regulated by genetic variation influencing fertility, multiple lines of evidence from both functional and genomic studies will be required. Advances in genomics, large-scale publically available data, and genome editing are making this more feasible. This knowledge will help better predict and minimize the health impacts of important life events. Genetic risk scores from common variants may be useful in diagnosing disease risk for individuals, and genetic variants associated with natural menopausal timing may influence menopausal timing in women undergoing radiation or chemotherapy. Genetic risk prediction models could be useful for counseling related to family planning, lifestyle choices, or fertility preservation techniques. Epidemiological evidence for comorbidity between traits can be difficult to interpret due to sample ascertainment issues.