Article
Rare coding variants and X-linked loci associated with age at menarche.
Nature communications - 4 Aug 2015
Lunetta Kathryn L, Day Felix R, Sulem Patrick, Ruth Katherine S, Tung Joyce Y, Hinds David A, Esko Tõnu, Elks Cathy E, Altmaier Elisabeth, He Chunyan, Huffman Jennifer E, Mihailov Evelin, Porcu Eleonora, Robino Antonietta, Rose Lynda M, Schick Ursula M, Stolk Lisette, Teumer Alexander, Thompson Deborah J, Traglia Michela, Wang Carol A, Yerges-Armstrong Laura M, Antoniou Antonis C, Barbieri Caterina, Coviello Andrea D, Cucca Francesco, Demerath Ellen W, Dunning Alison M, Gandin Ilaria, Grove Megan L, Gudbjartsson Daniel F, Hocking Lynne J, Hofman Albert, Huang Jinyan, Jackson Rebecca D, Karasik David, Kriebel Jennifer, Lange Ethan M, Lange Leslie A, Langenberg Claudia, Li Xin, Luan Jian'an, Mägi Reedik, Morrison Alanna C, Padmanabhan Sandosh, Pirie Ailith, Polasek Ozren, Porteous David, Reiner Alex P, Rivadeneira Fernando, Rudan Igor, Sala Cinzia F, Schlessinger David, Scott Robert A, Stöckl Doris, Visser Jenny A, Völker Uwe, Vozzi Diego, Wilson James G, Zygmunt Marek, Boerwinkle Eric, Buring Julie E, Crisponi Laura, Easton Douglas F, Hayward Caroline, Hu Frank B, Liu Simin, Metspalu Andres, Pennell Craig E, Ridker Paul M, Strauch Konstantin, Streeten Elizabeth A, Toniolo Daniela, Uitterlinden André G, Ulivi Sheila, Völzke Henry, Wareham Nicholas J, Wellons Melissa, Franceschini Nora, Chasman Daniel I, Thorsteinsdottir Unnur, Murray Anna, Stefansson Kari, Murabito Joanne M, Ong Ken K, Perry John R B
Abstract excerpt
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at...
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