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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Rare coding variants and X-linked loci associated with age at menarche
|
|---|---|
| Published in |
Nature Communications, August 2015
|
| DOI | 10.1038/ncomms8756 |
| Pubmed ID | |
| Authors |
Kathryn L. Lunetta, Felix R. Day, Patrick Sulem, Katherine S. Ruth, Joyce Y. Tung, David A. Hinds, Tõnu Esko, Cathy E. Elks, Elisabeth Altmaier, Chunyan He, Jennifer E. Huffman, Evelin Mihailov, Eleonora Porcu, Antonietta Robino, Lynda M. Rose, Ursula M. Schick, Lisette Stolk, Alexander Teumer, Deborah J. Thompson, Michela Traglia, Carol A. Wang, Laura M. Yerges-Armstrong, Antonis C. Antoniou, Caterina Barbieri, Andrea D. Coviello, Francesco Cucca, Ellen W. Demerath, Alison M. Dunning, Ilaria Gandin, Megan L. Grove, Daniel F. Gudbjartsson, Lynne J. Hocking, Albert Hofman, Jinyan Huang, Rebecca D. Jackson, David Karasik, Jennifer Kriebel, Ethan M. Lange, Leslie A. Lange, Claudia Langenberg, Xin Li, Jian'an Luan, Reedik Mägi, Alanna C. Morrison, Sandosh Padmanabhan, Ailith Pirie, Ozren Polasek, David Porteous, Alex P. Reiner, Fernando Rivadeneira, Igor Rudan, Cinzia F. Sala, David Schlessinger, Robert A. Scott, Doris Stöckl, Jenny A. Visser, Uwe Völker, Diego Vozzi, James G. Wilson, Marek Zygmunt, Eric Boerwinkle, Julie E. Buring, Laura Crisponi, Douglas F. Easton, Caroline Hayward, Frank B. Hu, Simin Liu, Andres Metspalu, Craig E. Pennell, Paul M. Ridker, Konstantin Strauch, Elizabeth A. Streeten, Daniela Toniolo, André G. Uitterlinden, Sheila Ulivi, Henry Völzke, Nicholas J. Wareham, Melissa Wellons, Nora Franceschini, Daniel I. Chasman, Unnur Thorsteinsdottir, Anna Murray, Kari Stefansson, Joanne M. Murabito, Ken K. Ong, John R. B. Perry |
| 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. |
X Demographics
The data shown below were collected from the profiles of 13 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 4 | 31% |
| Spain | 3 | 23% |
| United States | 2 | 15% |
| Norway | 1 | 8% |
| Unknown | 3 | 23% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 7 | 54% |
| Scientists | 5 | 38% |
| Practitioners (doctors, other healthcare professionals) | 1 | 8% |
Mendeley readers
The data shown below were compiled from readership statistics for 137 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Finland | 1 | <1% |
| United Kingdom | 1 | <1% |
| Unknown | 135 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 40 | 29% |
| Student > Bachelor | 17 | 12% |
| Student > Ph. D. Student | 9 | 7% |
| Professor | 9 | 7% |
| Student > Master | 9 | 7% |
| Other | 23 | 17% |
| Unknown | 30 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 42 | 31% |
| Biochemistry, Genetics and Molecular Biology | 22 | 16% |
| Agricultural and Biological Sciences | 16 | 12% |
| Psychology | 6 | 4% |
| Nursing and Health Professions | 4 | 3% |
| Other | 13 | 9% |
| Unknown | 34 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 17. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 April 2016.
All research outputs
#2,092,405
of 24,792,414 outputs
Outputs from Nature Communications
#26,045
of 53,949 outputs
Outputs of similar age
#26,681
of 269,769 outputs
Outputs of similar age from Nature Communications
#321
of 783 outputs
Altmetric has tracked 24,792,414 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 53,949 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 56.0. This one has gotten more attention than average, scoring higher than 51% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 269,769 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 90% of its contemporaries.
We're also able to compare this research output to 783 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.