Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.
- Day, Felix
- Hinds, David A
- Tung, Joyce Y
- Stolk, Lisette
- Styrkarsdottir, Unnur
- Saxena, Richa
- Bjonnes, Andrew
- Broer, Linda
- Dunger, David
- Halldorsson, Bjarni V
- Lawlor, Debbie A
- Laval, Guillaume
- Mathieson, Iain
- McCardle, Wendy L
- Louwers, Yvonne
- Meun, Cindy
- Ring, Susan
- Scott, Robert
- Sulem, Patrick
- Uitterlinden, André G
- Wareham, Nicholas
- Thorsteinsdottir, Unnur
- Welt, Corrine
- Stefansson, Kari
- Laven, Joop SE
- Ong, Kenneth
- Perry, John
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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