Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome
- Day, F.
- Hinds, D.
- Tung, J.
- Stolk, L.
- Styrkarsdottir, U.
- Saxena, R.
- Bjonnes, A.
- Broer, L.
- Dunger, D.
- Halldorsson, B.
- Lawlor, D.
- Laval, G.
- Mathieson, I.
- McCardle, W.
- Louwers, Y.
- Meun, C.
- Ring, S.
- Scott, R.
- Sulem, P.
- Uitterlinden, A.
- et al.
DOIAbstract
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<5 × 10(-8)), in/near genes ERBB4/HER4, YAP1, THADA, FSHB, RAD50 and KRR1. Variants in/near three of the four epidermal growth factor receptor genes (ERBB2/HER2, ERBB3/HER3 and ERBB4/HER4) are associated with PCOS at or near genome-wide significance. Mendelian randomization analyses indicate causal roles in PCO...
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