dc.contributor.author |
Lunetta, Kathryn L. |
dc.contributor.author |
Day, Felix R. |
dc.contributor.author |
Sulem, Patrick |
dc.contributor.author |
Ruth, Katherine S. |
dc.contributor.author |
Tung, Joyce Y. |
dc.contributor.author |
Hinds, David A. |
dc.contributor.author |
Esko, Tõnu |
dc.contributor.author |
Elks, Cathy E. |
dc.contributor.author |
Altmaier, Elisabeth |
dc.contributor.author |
He, Chunyan |
dc.contributor.author |
Huffman, Jennifer E. |
dc.contributor.author |
Mihailov, Evelin |
dc.contributor.author |
Porcu, Eleonora |
dc.contributor.author |
Robino, Antonietta |
dc.contributor.author |
Rose, Lynda M. |
dc.contributor.author |
Schick, Ursula M. |
dc.contributor.author |
Stolk, Lisette |
dc.contributor.author |
Teumer, Alexander |
dc.contributor.author |
Thompson, Deborah J. |
dc.contributor.author |
Traglia, Michela |
dc.contributor.author |
Wang, Carol A. |
dc.contributor.author |
Yerges-Armstrong, Laura M. |
dc.contributor.author |
Antoniou, Antonis C. |
dc.contributor.author |
Barbieri, Caterina |
dc.contributor.author |
Coviello, Andrea D. |
dc.contributor.author |
Cucca, Francesco |
dc.contributor.author |
Demerath, Ellen W. |
dc.contributor.author |
Dunning, Alison M. |
dc.contributor.author |
Gandin, Ilaria |
dc.contributor.author |
Grove, Megan L. |
dc.contributor.author |
Gudbjartsson, Daniel F. |
dc.contributor.author |
Hocking, Lynne J. |
dc.contributor.author |
Hofman, Albert |
dc.contributor.author |
Huang, Jinyan |
dc.contributor.author |
Jackson, Rebecca D. |
dc.contributor.author |
Karasik, David |
dc.contributor.author |
Kriebel, Jennifer |
dc.contributor.author |
Lange, Ethan M. |
dc.contributor.author |
Lange, Leslie A. |
dc.contributor.author |
Langenberg, Claudia |
dc.contributor.author |
Li, Xin |
dc.contributor.author |
Luan, Jian'an |
dc.contributor.author |
Mägi, Reedik |
dc.contributor.author |
Morrison, Alanna C. |
dc.contributor.author |
Padmanabhan, Sandosh |
dc.contributor.author |
Pirie, Ailith |
dc.contributor.author |
Polasek, Ozren |
dc.contributor.author |
Porteous, David |
dc.contributor.author |
Reiner, Alex P. |
dc.contributor.author |
Rivadeneira, Fernando |
dc.contributor.author |
Rudan, Igor |
dc.contributor.author |
Sala, Cinzia F. |
dc.contributor.author |
Schlessinger, David |
dc.contributor.author |
Scott, Robert A. |
dc.contributor.author |
Stöckl, Doris |
dc.contributor.author |
Visser, J. |
dc.contributor.author |
Völker, Uwe |
dc.contributor.author |
Vozzi, Diego |
dc.contributor.author |
Wilson, James G. |
dc.contributor.author |
Zygmunt, Marek |
dc.contributor.author |
Boerwinkle, Eric |
dc.contributor.author |
Buring, Julie |
dc.contributor.author |
Crisponi, Laura |
dc.contributor.author |
Easton, Douglas F. |
dc.contributor.author |
Hayward, Caroline |
dc.contributor.author |
Hu, Frank B. |
dc.contributor.author |
Liu, Simin |
dc.contributor.author |
Metspalu, Andres |
dc.contributor.author |
Pennell, Craig E. |
dc.contributor.author |
Ridker, Paul M. |
dc.contributor.author |
Strauch, Konstantin |
dc.contributor.author |
Streeten, Elizabeth A. |
dc.contributor.author |
Toniolo, Daniela |
dc.contributor.author |
Uitterlinden, André G. |
dc.contributor.author |
Ulivi, Sheila |
dc.contributor.author |
Völzke, Henry |
dc.contributor.author |
Wareham, Nicholas J. |
dc.contributor.author |
Wellons, Melissa |
dc.contributor.author |
Franceschini, Nora |
dc.contributor.author |
Chasman, Daniel I. |
dc.contributor.author |
Thorsteinsdottir, Unnur |
dc.contributor.author |
Murray, Anna |
dc.contributor.author |
Stefansson, Kari |
dc.contributor.author |
Murabito, Joanne M. |
dc.contributor.author |
Ong, Ken K. |
dc.contributor.author |
Perry, John R. B. |
dc.date |
2015 |
dc.identifier |
https://ddd.uab.cat/record/163160 |
dc.identifier |
urn:10.1038/ncomms8756 |
dc.identifier |
urn:oai:ddd.uab.cat:163160 |
dc.identifier |
urn:pmid:26239645 |
dc.identifier |
urn:scopus_id:84938675474 |
dc.identifier |
urn:wos_id:000360339900001 |
dc.identifier |
urn:altmetric_id:4361832 |
dc.identifier |
urn:pmc-uid:4538850 |
dc.identifier |
urn:pmcid:PMC4538850 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:4538850 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Nature communications ; Vol. 4 Núm. 6 (august 2015) |
dc.rights |
open access |
dc.rights |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
dc.rights |
https://creativecommons.org/licenses/by/3.0/ |
dc.subject |
Genètica |
dc.subject |
Menstruació |
dc.title |
Rare coding variants and X-linked loci associated with age at menarche |
dc.type |
Article |
dc.description.abstract |
Ha col·laborat en aquest article l'investigador Carlos González (Institut Germans Trias i Pujol. Institut Català d'Oncologia) |
dc.description.abstract |
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 menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P<5 × 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P=9.4 × 10(-13)) and FAAH2 (rs5914101, P=4.9 × 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P=2.8 × 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain ∼0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait |