Article
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Nature genetics - 1 Sept 2024
Oddsson Asmundur, Steinthorsdottir Valgerdur, Oskarsson Gudjon R, Styrkarsdottir Unnur, Moore Kristjan H S, Isberg Salvor, Halldorsson Gisli H, Sveinbjornsson Gardar, Westergaard David, Nielsen Henriette Svarre, Fridriksdottir Run, Jensson Brynjar O, Arnadottir Gudny A, Jonsson Hakon, Sturluson Arni, Snaebjarnarson Audunn S, Andreassen Ole A, Walters G Bragi, Nyegaard Mette, Erikstrup Christian, Steingrimsdottir Thora, Lie Rolv T, Melsted Pall, Jonsdottir Ingileif, Halldorsson Bjarni V, Thorleifsson Gudmar, Saemundsdottir Jona, Magnusson Olafur Th, Banasik Karina, Sorensen Erik, Masson Gisli, Pedersen Ole Birger, Tryggvadottir Laufey, Haavik Jan, Ostrowski Sisse Rye, Stefansson Hreinn, Holm Hilma, Rafnar Thorunn, Gudbjartsson Daniel F, Sulem Patrick, Stefansson Kari
Abstract excerpt
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 considered1. Here through GWAS meta-analysis under the recessive model of 174,329 postmenopausal women from Iceland, Denmark, the United Kingdom (UK; UK...
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