Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P

• WT
  Wellcome Trust

  Award: 092731
• UO
  University of Bristol

  Awards: 092731, MC_UU_12013/5
• NI
  National Institutes of Health

  Awards: R01 DK077659, DK077659, 092731
• MR
  Medical Research Council

  Awards: MC_UU_12013, U106179472, MC_UU_12013/5, MC_UU_12015/2, MC_PC_15018, 092731, MC_UU_12015/1
• NH
  National Human Genome Research Institute

  Award: R44HG006981