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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

2024; Nature Portfolio; Volume: 56; Issue: 9 Linguagem: Inglês

10.1038/s41588-024-01885-6

1546-1718

Ásmundur Oddsson, Valgerður Steinthórsdóttir, Gudjon R. Oskarsson, Unnur Styrkársdóttir, Kristjan H. S. Moore, Salvor Isberg, Gísli H. Halldórsson, Garðar Sveinbjörnsson, David Westergaard, Henriette Svarre Nielsen, Rún Friðriksdóttir, Brynjar Ö. Jensson, Gudny A. Arnadottir, Hákon Jónsson, Árni Sturluson, Auðunn Skúta Snæbjarnarson, Ole A. Andreassen, G. Bragi Walters, Mette Nyegaard, Christian Erikstrup, Þóra Steingrímsdóttir, Rolv T. Lie, Páll Melsted, Ingileif Jónsdóttir, Bjarni V. Halldórsson, Guðmar Þorleifsson, Jona Saemundsdottir, Ólafur Þ. Magnússon, Hreinn Stefánsson, Karina Banasik, Erik Sørensen, Gísli Másson, Ole Birger Pedersen, Laufey Tryggvadóttír, Jan Haavik, Sisse Rye Ostrowski, Hreinn Stefánsson, Hilma Hólm, Þórunn Rafnar, Daníel F. Guðbjartsson, Patrick Sulem, Kári Stéfansson,

Ovarian cancer diagnosis and treatment

Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered