Genetic determinants of polycystic ovary syndrome: progress and future directions

High-throughput disease gene mapping has identified 16 susceptibility loci for polycystic ovary syndrome and functional analysis to understand how these genes act in disease pathways will help to illuminate the pathophysiology of polycystic ovary syndrome.


Michelle R. Jones, Ph.D., Mark O. Goodarzi, M.D., Ph.D.


The field of the genetics of polycystic ovary syndrome (PCOS) has relatively recently moved into the era of genome-wide association studies. This has led to the discovery of 16 robust loci for PCOS. Some loci contain genes with clear roles in reproductive (LHCGR, FSHR, and FSHB) and metabolic (INSR andHMGA2) dysfunction in the syndrome. The next challenge facing the field is the identification of causal variants and genes and the role they play in PCOS pathophysiology. The potential for gene discovery to improve diagnosis and treatment of PCOS is promising, though there is much to be done in the field before the current findings can be translated to the clinic.

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