A genome-wide association study investigating the genetics of polycystic ovary syndrome (PCOS) has identified genetic variants unique to European women, shedding light on the biology of the disorder, reports a study in Nature Communications.
Up to 15% of women worldwide are believed to have PCOS, affecting their health and fertility. The disorder is highly heritable, pointing to a strong genetic influence. Due to the complex clinical features of the disorder, multiple diagnostic criteria exist.
Geoffrey Hayes, Margit Urbanek and colleagues conduct a genome-wide association study in a cohort of European women using the National Institutes of Health criteria to identify novel single nucleotide polymorphisms associated with polycystic ovary syndrome and the potential genes affected. They identify two loci unique to European women, while confirming one already known from work with Chinese cohorts. The authors find that the gene FSHB, which encodes for a protein required for egg production, was associated with the disorder, suggesting a role for the genetic variants in hormone regulation. The work furthers our understanding of a complicated disorder with subtle genetic variations between ethnic groups.