Search: (WFRF:(Smith Patrick)) srt2:(2015-2019)
> (2015) >
Rare coding variant...
Rare coding variants and X-linked loci associated with age at menarche
-
Lunetta, Kathryn L. (author)
-
Day, Felix R. (author)
-
Sulem, Patrick (author)
-
show more...
-
Ruth, Katherine S. (author)
-
Tung, Joyce Y. (author)
-
Hinds, David A. (author)
-
Esko, Tonu (author)
-
Elks, Cathy E. (author)
-
Altmaier, Elisabeth (author)
-
He, Chunyan (author)
-
Huffman, Jennifer E. (author)
-
Mihailov, Evelin (author)
-
Porcu, Eleonora (author)
-
Robino, Antonietta (author)
-
Rose, Lynda M. (author)
-
Schick, Ursula M. (author)
-
Stolk, Lisette (author)
-
Teumer, Alexander (author)
-
Thompson, Deborah J. (author)
-
Traglia, Michela (author)
-
Wang, Carol A. (author)
-
Yerges-Armstrong, Laura M. (author)
-
Antoniou, Antonis C. (author)
-
Barbieri, Caterina (author)
-
Coviello, Andrea D. (author)
-
Cucca, Francesco (author)
-
Demerath, Ellen W. (author)
-
Dunning, Alison M. (author)
-
Gandin, Ilaria (author)
-
Grove, Megan L. (author)
-
Gudbjartsson, Daniel F. (author)
-
Hocking, Lynne J. (author)
-
Hofman, Albert (author)
-
Huang, Jinyan (author)
-
Jackson, Rebecca D. (author)
-
Karasik, David (author)
-
Kriebel, Jennifer (author)
-
Lange, Ethan M. (author)
-
Lange, Leslie A. (author)
-
Langenberg, Claudia (author)
-
Li, Xin (author)
-
Luan, Jian'an (author)
-
Maegi, Reedik (author)
-
Morrison, Alanna C. (author)
-
Padmanabhan, Sandosh (author)
-
Pirie, Ailith (author)
-
Polasek, Ozren (author)
-
Porteous, David (author)
-
Reiner, Alex P. (author)
-
Rivadeneira, Fernando (author)
-
Rudan, Igor (author)
-
Sala, Cinzia F. (author)
-
Schlessinger, David (author)
-
Scott, Robert A. (author)
-
Stoeckl, Doris (author)
-
Visser, Jenny A. (author)
-
Voelker, Uwe (author)
-
Vozzi, Diego (author)
-
Wilson, James G. (author)
-
Zygmunt, Marek (author)
-
Boerwinkle, Eric (author)
-
Buring, Julie E. (author)
-
Crisponi, Laura (author)
-
Easton, Douglas F. (author)
-
Hayward, Caroline (author)
-
Hu, Frank B. (author)
-
Liu, Simin (author)
-
Metspalu, Andres (author)
-
Pennell, Craig E. (author)
-
Ridker, Paul M. (author)
-
Strauch, Konstantin (author)
-
Streeten, Elizabeth A. (author)
-
Toniolo, Daniela (author)
-
Uitterlinden, Andre G. (author)
-
Ulivi, Sheila (author)
-
Voelzke, Henry (author)
-
Wareham, Nicholas J. (author)
-
Wellons, Melissa (author)
-
Franceschini, Nora (author)
-
Chasman, Daniel I. (author)
-
Thorsteinsdottir, Unnur (author)
-
Murray, Anna (author)
-
Stefansson, Kari (author)
-
Murabito, Joanne M. (author)
-
Ong, Ken K. (author)
-
Perry, John R. B. (author)
-
Forouhi, Nita G. (author)
-
Kerrison, Nicola D. (author)
-
Sharp, Stephen J. (author)
-
Sims, Matt (author)
-
Barroso, Ines (author)
-
Deloukas, Panos (author)
-
McCarthy, Mark I. (author)
-
Arriola, Larraitz (author)
-
Balkau, Beverley (author)
-
Barricarte, Aurelio (author)
-
Boeing, Heiner (author)
-
- Franks, Paul W. (author)
- Umeå University,Lund University,Lunds universitet,Umeå universitet,Medicin,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups
-
Gonzalez, Carlos (author)
-
Grioni, Sara (author)
-
Kaaks, Rudolf (author)
-
Key, Timothy J. (author)
-
Navarro, Carmen (author)
-
- Nilsson, Peter (author)
- Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups
-
Overvad, Kim (author)
-
Palli, Domenico (author)
-
Panico, Salvatore (author)
-
Ramon Quiros, J. (author)
-
- Rolandsson, Olov (author)
- Umeå universitet,Allmänmedicin
-
Sacerdote, Carlotta (author)
-
Sanchez, Maria-Jose (author)
-
Slimani, Nadia (author)
-
Tjonneland, Anne (author)
-
Tumino, Rosario (author)
-
van der A, Daphne L. (author)
-
van der Schouw, Yvonne T. (author)
-
Riboli, Elio (author)
-
Smith, Blair H. (author)
-
Campbell, Archie (author)
-
Deary, Ian J. (author)
-
McIntosh, Andrew M. (author)
-
show less...
-
(creator_code:org_t)
- 2015-08-04
- 2015
- English.
-
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://umu.diva-por... (primary) (Raw object)
-
https://www.nature.c...
-
http://dx.doi.org/10... (free)
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://lup.lub.lu.s...
-
show less...
Abstract
Subject headings
Close
- 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<5 x 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P = 9.4 x 10(-13)) and FAAH2 (rs5914101, P = 4.9 x 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 x 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain similar to 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Lunetta, Kathryn ...
-
Day, Felix R.
-
Sulem, Patrick
-
Ruth, Katherine ...
-
Tung, Joyce Y.
-
Hinds, David A.
-
show more...
-
Esko, Tonu
-
Elks, Cathy E.
-
Altmaier, Elisab ...
-
He, Chunyan
-
Huffman, Jennife ...
-
Mihailov, Evelin
-
Porcu, Eleonora
-
Robino, Antoniet ...
-
Rose, Lynda M.
-
Schick, Ursula M ...
-
Stolk, Lisette
-
Teumer, Alexande ...
-
Thompson, Debora ...
-
Traglia, Michela
-
Wang, Carol A.
-
Yerges-Armstrong ...
-
Antoniou, Antoni ...
-
Barbieri, Cateri ...
-
Coviello, Andrea ...
-
Cucca, Francesco
-
Demerath, Ellen ...
-
Dunning, Alison ...
-
Gandin, Ilaria
-
Grove, Megan L.
-
Gudbjartsson, Da ...
-
Hocking, Lynne J ...
-
Hofman, Albert
-
Huang, Jinyan
-
Jackson, Rebecca ...
-
Karasik, David
-
Kriebel, Jennife ...
-
Lange, Ethan M.
-
Lange, Leslie A.
-
Langenberg, Clau ...
-
Li, Xin
-
Luan, Jian'an
-
Maegi, Reedik
-
Morrison, Alanna ...
-
Padmanabhan, San ...
-
Pirie, Ailith
-
Polasek, Ozren
-
Porteous, David
-
Reiner, Alex P.
-
Rivadeneira, Fer ...
-
Rudan, Igor
-
Sala, Cinzia F.
-
Schlessinger, Da ...
-
Scott, Robert A.
-
Stoeckl, Doris
-
Visser, Jenny A.
-
Voelker, Uwe
-
Vozzi, Diego
-
Wilson, James G.
-
Zygmunt, Marek
-
Boerwinkle, Eric
-
Buring, Julie E.
-
Crisponi, Laura
-
Easton, Douglas ...
-
Hayward, Carolin ...
-
Hu, Frank B.
-
Liu, Simin
-
Metspalu, Andres
-
Pennell, Craig E ...
-
Ridker, Paul M.
-
Strauch, Konstan ...
-
Streeten, Elizab ...
-
Toniolo, Daniela
-
Uitterlinden, An ...
-
Ulivi, Sheila
-
Voelzke, Henry
-
Wareham, Nichola ...
-
Wellons, Melissa
-
Franceschini, No ...
-
Chasman, Daniel ...
-
Thorsteinsdottir ...
-
Murray, Anna
-
Stefansson, Kari
-
Murabito, Joanne ...
-
Ong, Ken K.
-
Perry, John R. B ...
-
Forouhi, Nita G.
-
Kerrison, Nicola ...
-
Sharp, Stephen J ...
-
Sims, Matt
-
Barroso, Ines
-
Deloukas, Panos
-
McCarthy, Mark I ...
-
Arriola, Larrait ...
-
Balkau, Beverley
-
Barricarte, Aure ...
-
Boeing, Heiner
-
Franks, Paul W.
-
Gonzalez, Carlos
-
Grioni, Sara
-
Kaaks, Rudolf
-
Key, Timothy J.
-
Navarro, Carmen
-
Nilsson, Peter
-
Overvad, Kim
-
Palli, Domenico
-
Panico, Salvator ...
-
Ramon Quiros, J.
-
Rolandsson, Olov
-
Sacerdote, Carlo ...
-
Sanchez, Maria-J ...
-
Slimani, Nadia
-
Tjonneland, Anne
-
Tumino, Rosario
-
van der A, Daphn ...
-
van der Schouw, ...
-
Riboli, Elio
-
Smith, Blair H.
-
Campbell, Archie
-
Deary, Ian J.
-
McIntosh, Andrew ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Endocrinology an ...
- Articles in the publication
-
Nature Communica ...
- By the university
-
Umeå University
-
Lund University