A new study has identified common genetic loci for the NIH polycystic ovary syndrome (PCOS) phenotype of hyperandrogenism and anovulation in women of European descent. In a genome-wide association study with two rounds of replication in different cohorts, three loci reached genome-wide significance. Two of the loci identified were novel: 8p32.1 in the region of GATA4 (encoding a transcription factor that regulates gonadal development and transcription of steroidogenic genes) and NEIL2; and 11p14.1 in the region of FSHB (encoding follicle-stimulating hormone β subunit), which is strongly associated with PCOS diagnosis and luteinizing hormone levels. The third loci, 9q22.32, in the region of AOPEP and FANCC, was previously identified in Chinese women with PCOS. The findings, together with those from the Chinese cohort, implicate genes regulating gonadotropin action and secretion in the pathogenesis of PCOS.
References
Hayes, M. G. et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat. Commun. 10.1038/ncomms8502
Rights and permissions
About this article
Cite this article
Susceptibility loci identified in women of European descent. Nat Rev Endocrinol 11, 568 (2015). https://doi.org/10.1038/nrendo.2015.150
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrendo.2015.150
