Variation in reproductive lifespan and female fertility have implications for health, population size and ageing. Fertility declines well before general signs of menopause and is also adversely affected by common reproductive diseases, including polycystic ovarian syndrome (PCOS) and endometriosis. Understanding the factors that regulate the timing of puberty and menopause, and the relationships with fertility are important for individuals and for policy. Substantial genetic variation exists for common traits associated with reproductive lifespan and for common diseases influencing female fertility. Genetic studies have identified mutations in genes contributing to disorders of reproduction, and in the last ten years, genome-wide association studies (GWAS) have transformed our understanding of common genetic contributions to these complex traits and diseases. These studies have made great progress towards understanding the genetic factors contributing to variation in traits and diseases influencing female fertility. The data emerging from GWAS demonstrate the utility of genetics to explain epidemiological observations, revealing shared biological pathways linking puberty timing, fertility, reproductive ageing and health outcomes. Many variants implicate DNA damage/repair genes in variation in the age at menopause with implications for follicle health and ageing. In addition to the discovery of individual genes and pathways, the increasingly powerful studies on common genetic risk factors help interpret the underlying relationships and direction of causation in the regulation of reproductive lifespan, fertility and related traits.

生殖寿命和女性生育率的变化对健康，人口规模和老龄化都有影响。生育能力在更年期的一般征兆发生之前就已经下降了，而且还受到包括多囊卵巢综合症（PCOS）和子宫内膜异位症在内的常见生殖疾病的不利影响。了解调节青春期和更年期的因素以及与生育力的关系对个人和政策都很重要。与生殖寿命相关的常见性状以及影响女性生育力的常见疾病均存在大量的遗传变异。遗传学研究已经鉴定出导致生殖疾病的基因突变，在最近十年中，全基因组关联研究（GWAS）改变了我们对这些复杂性状和疾病的常见遗传贡献的理解。这些研究在了解导致影响女性生育力的性状和疾病变异的遗传因素方面取得了巨大进展。GWAS产生的数据证明了遗传学可用于解释流行病学观察结果，揭示了将青春期，生育能力，生殖衰老和健康结果联系起来的共享生物学途径。许多变异在更年期的年龄中暗示DNA损伤/修复基因的变化，从而影响卵泡的健康和衰老。除了发现单个基因和途径外，