PCOS is proposed to be an orchestration of gene-gene and geneenvironment interactions. The syndrome is highly inherited, and the risk increases by
up to 40% in families with a history of PCOS. Familial clustering of PCOS symptoms
is now well documented, pointing to the genetic contribution to the condition. Research
currently available indicates that PCOS is a complex illness influenced by a number of
variables, including environment, lifestyle, diet, genetics, and epigenetics.
Nevertheless, it is currently unknown how much of each component contributes to the
total phenotype. Currently, no single gene or related genes have been unanimously
regarded as a significant cause of PCOS. Several genes have been linked to PCOS, and
mutations or polymorphisms in these genes have a role in disease development. Until
now, accurate genetic variations in PCOS have not been documented. Single-gene
mutations, on the other hand, cause the phenotypic manifestations of PCOS. This
chapter discusses the several genetic aspects linked to PCOS through gonadotropin
regulation, gonadotrophin activity, ovarian and adrenal steroidogenesis, steroid
hormone activities, energy homeostasis, insulin action, insulin secretion, and chronic
inflammation.
Keywords: Candidate gene biology, GWAS, Identical twins, Transgenerational impact.
