Rare coding variants and X-linked loci associated with age at menarche
| Title: | Rare coding variants and X-linked loci associated with age at menarche |
|---|---|
| Authors: | Lunetta, KL; Day, FR; Sulem, P; Ruth, KS; Tung, JY; Hinds, DA; Esko, T; Elks, CE; Altmaier, E; He, CY; Huffman, JE; Mihailov, E; Porcu, E; Robino, A; Rose, LM; Schick, UM; Stolk, Lisette; Teumer, A; Thompson, DJ; Traglia, M; Wang, CA; Yerges-Armstrong, LM; Antoniou, AC; Barbieri, C; Coviello, AD; Cucca, F; Demerath, EW; Dunning, AM; Gandin, I; Grove, ML; Gudbjartsson, DF; Hocking, LJ; Hofman, Bert; Huang, JY; Jackson, RD; Karasik, D; Kriebel, J; Lange, Edmee; Lange, LA; Langenberg, C; Li, X; Luan, JA; Magi, R; Morrison, AC; Padmanabhan, S; Pirie, A; Polasek, O; Porteous, D; Reiner, AP; Rivadeneira, Fernando; Rudan, I; Sala, CF; Schlessinger, D; Scott, RA; Stockl, D; Visser, Jenny; Volker, U; Vozzi, D; Wilson, JG; Zygmunt, M; Boerwinkle, E; Buring, JE; Crisponi, L; Easton, DF; Hayward, C; Hu, FB; Liu, SM (Simin); Metspalu, A; Pennell, CE; Ridker, PM; Strauch, K; Streeten, EA; Toniolo, D; Uitterlinden, André; Ulivi, S; Volzke, H; Wareham, NJ; Wellons, M; Franceschini, N; Chasman, DI; Thorsteinsdottir, U; Murray, A; Stefansson, K; Murabito, JM; Ong, KK; Perry, JRB; Forouhi, NG; Kerrison, ND; Sharp, SJ; Sims, M; Barroso, I; Deloukas, P; McCarthy, MI; Arriola, L; Balkau, B; Barricarte, A; Boeing, H; Franks, PW; Gonzalez, C; Grioni, S; Kaaks, R; Key, TJ; Navarro, C; Nilsson, PM; Overvad, K; Palli, D; Panico, S; Quiros, JR; Rolandsson, O; Sacerdote, C; Sanchez, MJ (Maria-Jose); Slimani, N; Tjonneland, A; Tumino, R; van der A, DL; van der Schouw, YT; Riboli, E; Smith, BH; Campbell, A (Archie); Deary, IJ; McIntosh, AM |
| Source: | Lunetta, KL, Day, FR, Sulem, P, Ruth, KS, Tung, JY, Hinds, DA, Esko, T, Elks, CE, Altmaier, E, He, CY, Huffman, JE, Mihailov, E, Porcu, E, Robino, A, Rose, LM, Schick, UM, Stolk, L, Teumer, A, Thompson, DJ, Traglia, M, Wang, CA, Yerges-Armstrong, LM, Antoniou, AC, Barbieri, C, Coviello, AD, Cucca, F, Demerath, EW, Dunning, AM, Gandin, I, Grove, ML, Gudbjartsson, DF, Hocking, LJ, Hofman, B, Huang, JY, Jackson, RD, Karasik, D, Kriebel, J, Lange, E, Lange, LA, Langenberg, C, Li, X, Luan, JA, Magi, R, Morrison, AC, Padmanabhan, S, Pirie, A, Polasek, O, Porteous, D, Reiner, AP, Rivadeneira, .... |
| Publication Year: | 2015 |
| Subject Terms: | /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013904; name=EMC MM-01-39-04; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A; name=EMC MM-01-39-09-A; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402; name=EMC NIHES-01-64-02 |
| Description: | More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | unknown |
| ISSN: | 2041-1723 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/26239645; info:eu-repo/semantics/altIdentifier/pissn/2041-1723; info:eu-repo/semantics/altIdentifier/eissn/2041-1723 |
| DOI: | 10.1038/ncomms8756 |
| Availability: | https://pure.eur.nl/en/publications/2c736ee2-be6e-40db-a690-404eed5c26e0; https://doi.org/10.1038/ncomms8756; https://pure.eur.nl/ws/files/47632055/REPUB_86949_OA.pdf |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.C70C0F6C |
| Database: | BASE |