<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Tachmazidou, Ioanna</style></author><author><style face="normal" font="default" size="100%">Süveges, Dániel</style></author><author><style face="normal" font="default" size="100%">Min, Josine L</style></author><author><style face="normal" font="default" size="100%">Ritchie, Graham R S</style></author><author><style face="normal" font="default" size="100%">Steinberg, Julia</style></author><author><style face="normal" font="default" size="100%">Walter, Klaudia</style></author><author><style face="normal" font="default" size="100%">Iotchkova, Valentina</style></author><author><style face="normal" font="default" size="100%">Schwartzentruber, Jeremy</style></author><author><style face="normal" font="default" size="100%">Huang, Jie</style></author><author><style face="normal" font="default" size="100%">Memari, Yasin</style></author><author><style face="normal" font="default" size="100%">McCarthy, Shane</style></author><author><style face="normal" font="default" size="100%">Crawford, Andrew A</style></author><author><style face="normal" font="default" size="100%">Bombieri, Cristina</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Farmaki, Aliki-Eleni</style></author><author><style face="normal" font="default" size="100%">Gaunt, Tom R</style></author><author><style face="normal" font="default" size="100%">Jousilahti, Pekka</style></author><author><style face="normal" font="default" size="100%">Kooijman, Marjolein N</style></author><author><style face="normal" font="default" size="100%">Lehne, Benjamin</style></author><author><style face="normal" font="default" size="100%">Malerba, Giovanni</style></author><author><style face="normal" font="default" size="100%">Männistö, Satu</style></author><author><style face="normal" font="default" size="100%">Matchan, Angela</style></author><author><style face="normal" font="default" size="100%">Medina-Gomez, Carolina</style></author><author><style face="normal" font="default" size="100%">Metrustry, Sarah J</style></author><author><style face="normal" font="default" size="100%">Nag, Abhishek</style></author><author><style face="normal" font="default" size="100%">Ntalla, Ioanna</style></author><author><style face="normal" font="default" size="100%">Paternoster, Lavinia</style></author><author><style face="normal" font="default" size="100%">Rayner, Nigel W</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Scott, William R</style></author><author><style face="normal" font="default" size="100%">Shihab, Hashem A</style></author><author><style face="normal" font="default" size="100%">Southam, Lorraine</style></author><author><style face="normal" font="default" size="100%">St Pourcain, Beate</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Trajanoska, Katerina</style></author><author><style face="normal" font="default" size="100%">Zaza, Gialuigi</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Artigas, María S</style></author><author><style face="normal" font="default" size="100%">Bansal, Narinder</style></author><author><style face="normal" font="default" size="100%">Benn, Marianne</style></author><author><style face="normal" font="default" size="100%">Chen, Zhongsheng</style></author><author><style face="normal" font="default" size="100%">Danecek, Petr</style></author><author><style face="normal" font="default" size="100%">Lin, Wei-Yu</style></author><author><style face="normal" font="default" size="100%">Locke, Adam</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" font="default" size="100%">Manning, Alisa K</style></author><author><style face="normal" font="default" size="100%">Mulas, Antonella</style></author><author><style face="normal" font="default" size="100%">Sidore, Carlo</style></author><author><style face="normal" font="default" size="100%">Tybjaerg-Hansen, Anne</style></author><author><style face="normal" font="default" size="100%">Varbo, Anette</style></author><author><style face="normal" font="default" size="100%">Zoledziewska, Magdalena</style></author><author><style face="normal" font="default" size="100%">Finan, Chris</style></author><author><style face="normal" font="default" size="100%">Hatzikotoulas, Konstantinos</style></author><author><style face="normal" font="default" size="100%">Hendricks, Audrey E</style></author><author><style face="normal" font="default" size="100%">Kemp, John P</style></author><author><style face="normal" font="default" size="100%">Moayyeri, Alireza</style></author><author><style face="normal" font="default" size="100%">Panoutsopoulou, Kalliope</style></author><author><style face="normal" font="default" size="100%">Szpak, Michal</style></author><author><style face="normal" font="default" size="100%">Wilson, Scott G</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Cucca, Francesco</style></author><author><style face="normal" font="default" size="100%">Di Angelantonio, Emanuele</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Nordestgaard, Børge G</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Tobin, Martin D</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Burton, Paul</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Smith, George Davey</style></author><author><style face="normal" font="default" size="100%">Dedoussis, George</style></author><author><style face="normal" font="default" size="100%">Felix, Janine F</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Gambaro, Giovanni</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Hammond, Christopher J</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Jaddoe, Vincent W V</style></author><author><style face="normal" font="default" size="100%">Kleber, Marcus</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Relton, Caroline</style></author><author><style face="normal" font="default" size="100%">Ring, Susan M</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Spector, Timothy D</style></author><author><style face="normal" font="default" size="100%">Stegle, Oliver</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Barroso, Inês</style></author><author><style face="normal" font="default" size="100%">Greenwood, Celia M T</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Walker, Brian R</style></author><author><style face="normal" font="default" size="100%">Butterworth, Adam S</style></author><author><style face="normal" font="default" size="100%">Xue, Yali</style></author><author><style face="normal" font="default" size="100%">Durbin, Richard</style></author><author><style face="normal" font="default" size="100%">Small, Kerrin S</style></author><author><style face="normal" font="default" size="100%">Soranzo, Nicole</style></author><author><style face="normal" font="default" size="100%">Timpson, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">SpiroMeta Consortium</style></author><author><style face="normal" font="default" size="100%">GoT2D Consortium</style></author><author><style face="normal" font="default" size="100%">arcOGEN Consortium</style></author><author><style face="normal" font="default" size="100%">Understanding Society Scientific group</style></author><author><style face="normal" font="default" size="100%">UK10K Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Anthropometry</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Height</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Methylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipodystrophy</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Meta-Analysis as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Obesity</style></keyword><keyword><style  face="normal" font="default" size="100%">Physical Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">United Kingdom</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Jun 01</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">100</style></volume><pages><style face="normal" font="default" size="100%">865-884</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28552196?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Cousminer, Diana L</style></author><author><style face="normal" font="default" size="100%">Stergiakouli, Evangelia</style></author><author><style face="normal" font="default" size="100%">Berry, Diane J</style></author><author><style face="normal" font="default" size="100%">Ang, Wei</style></author><author><style face="normal" font="default" size="100%">Groen-Blokhuis, Maria M</style></author><author><style face="normal" font="default" size="100%">Körner, Antje</style></author><author><style face="normal" font="default" size="100%">Siitonen, Niina</style></author><author><style face="normal" font="default" size="100%">Ntalla, Ioanna</style></author><author><style face="normal" font="default" size="100%">Marinelli, Marcella</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Kettunen, Johannes</style></author><author><style face="normal" font="default" size="100%">Jansen, Rick</style></author><author><style face="normal" font="default" size="100%">Surakka, Ida</style></author><author><style face="normal" font="default" size="100%">Timpson, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Ring, Susan</style></author><author><style face="normal" font="default" size="100%">McMahon, George</style></author><author><style face="normal" font="default" size="100%">Power, Chris</style></author><author><style face="normal" font="default" size="100%">Wang, Carol</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Viikari, Jorma</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Middeldorp, Christel M</style></author><author><style face="normal" font="default" size="100%">Hulshoff Pol, Hilleke E</style></author><author><style face="normal" font="default" size="100%">Neef, Madlen</style></author><author><style face="normal" font="default" size="100%">Weise, Sebastian</style></author><author><style face="normal" font="default" size="100%">Pahkala, Katja</style></author><author><style face="normal" font="default" size="100%">Niinikoski, Harri</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author><author><style face="normal" font="default" size="100%">Panoutsopoulou, Kalliope</style></author><author><style face="normal" font="default" size="100%">Bustamante, Mariona</style></author><author><style face="normal" font="default" size="100%">Penninx, Brenda W J H</style></author><author><style face="normal" font="default" size="100%">Murabito, Joanne</style></author><author><style face="normal" font="default" size="100%">Torrent, Maties</style></author><author><style face="normal" font="default" size="100%">Dedoussis, George V</style></author><author><style face="normal" font="default" size="100%">Kiess, Wieland</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Pennell, Craig E</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Hyppönen, Elina</style></author><author><style face="normal" font="default" size="100%">Davey Smith, George</style></author><author><style face="normal" font="default" size="100%">Ripatti, Samuli</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Widen, Elisabeth</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">ReproGen Consortium</style></author><author><style face="normal" font="default" size="100%">Early Growth Genetics Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum. Mol. Genet.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Aug 15</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">23</style></volume><pages><style face="normal" font="default" size="100%">4452-64</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Little is known about genes regulating male puberty. Further, while many identified pubertal timing variants associate with age at menarche, a late manifestation of puberty, and body mass, little is known about these variants' relationship to pubertal initiation or tempo. To address these questions, we performed genome-wide association meta-analysis in over 11 000 European samples with data on early pubertal traits, male genital and female breast development, measured by the Tanner scale. We report the first genome-wide significant locus for male sexual development upstream of myocardin-like 2 (MKL2) (P = 8.9 × 10(-9)), a menarche locus tagging a developmental pathway linking earlier puberty with reduced pubertal growth (P = 4.6 × 10(-5)) and short adult stature (p = 7.5 × 10(-6)) in both males and females. Furthermore, our results indicate that a proportion of menarche loci are important for pubertal initiation in both sexes. Consistent with epidemiological correlations between increased prepubertal body mass and earlier pubertal timing in girls, body mass index (BMI)-increasing alleles correlated with earlier breast development. In boys, some BMI-increasing alleles associated with earlier, and others with delayed, sexual development; these genetic results mimic the controversy in epidemiological studies, some of which show opposing correlations between prepubertal BMI and male puberty. Our results contribute to our understanding of the pubertal initiation program in both sexes and indicate that although mechanisms regulating pubertal onset in males and females may largely be shared, the relationship between body mass and pubertal timing in boys may be complex and requires further genetic studies.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">16</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24770850?dopt=Abstract</style></custom1></record></records></xml>