Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age

por Antonino Zito, Matthew N. Davies, Pei-Chien Tsai, Susanna Roberts, Rosa Andres-Ejarque, Stefano Nardone, Jordana T. Bell, Chloe C. Y. Wong, Kerrin S. Small
Publicado 2019

The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue.

por Alexander W Drong, George Nicholson, Asa K Hedman, Eshwar Meduri, Elin Grundberg, Kerrin S Small, So-Youn Shin, Jordana T Bell, Fredrik Karpe, Nicole Soranzo, Tim D Spector, Mark I McCarthy, Panos Deloukas, Mattias Rantalainen, Cecilia M Lindgren, MolPAGE Consortia
Publicado 2013

Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus

por Christopher A. Odhams, Amy L. Roberts, Susan K. Vester, Carolina S. T. Duarte, Charlie T. Beales, Alexander J. Clarke, Sonja Lindinger, Samuel J. Daffern, Antonino Zito, Lingyan Chen, Leonardo L. Jones, Lora Boteva, David L. Morris, Kerrin S. Small, Michelle M. A. Fernando, Deborah S. Cunninghame Graham, Timothy J. Vyse
Publicado 2019

RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro

por Nellie Y. Loh, James E. N. Minchin, Katherine E. Pinnick, Manu Verma, Marijana Todorčević, Nathan Denton, Julia El-Sayed Moustafa, John P. Kemp, Celia L. Gregson, David M. Evans, Matt J. Neville, Kerrin S. Small, Mark I. McCarthy, Anubha Mahajan, John F. Rawls, Fredrik Karpe, Constantinos Christodoulides
Publicado 2020

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

por David Z. Pan, Kristina M. Garske, Marcus Alvarez, Yash V. Bhagat, James Boocock, Elina Nikkola, Zong Miao, Chelsea K. Raulerson, Rita M. Cantor, Mete Civelek, Craig A. Glastonbury, Kerrin S. Small, Michael Boehnke, Aldons J. Lusis, Janet S. Sinsheimer, Karen L. Mohlke, Markku Laakso, Päivi Pajukanta, Arthur Ko
Publicado 2018

Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

por David Z. Pan, Kristina M. Garske, Marcus Alvarez, Yash V. Bhagat, James Boocock, Elina Nikkola, Zong Miao, Chelsea K. Raulerson, Rita M. Cantor, Mete Civelek, Craig A. Glastonbury, Kerrin S. Small, Michael Boehnke, Aldons J. Lusis, Janet S. Sinsheimer, Karen L. Mohlke, Markku Laakso, Päivi Pajukanta, Arthur Ko
Publicado 2018

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

por Sebastian Guelfi, Karishma D’Sa, Juan A. Botía, Jana Vandrovcova, Regina H. Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado-Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Kerrin S. Small, Colin Smith, Adaikalavan Ramasamy, John Hardy, Michael E. Weale, Mina Ryten
Publicado 2020

Further evidence supporting a potential role for ADH1B in obesity

por Liza D. Morales, Douglas T. Cromack, Devjit Tripathy, Marcel Fourcaudot, Satish Kumar, Joanne E. Curran, Melanie Carless, Harald H. H. Göring, Shirley L. Hu, Juan Carlos Lopez-Alvarenga, Kristina M. Garske, Päivi Pajukanta, Kerrin S. Small, Craig A. Glastonbury, Swapan K. Das, Carl Langefeld, Robert L. Hanson, Wen-Chi Hsueh, Luke Norton, Rector Arya, Srinivas Mummidi, John Blangero, Ralph A. DeFronzo, Ravindranath Duggirala, Christopher P. Jenkinson
Publicado 2021

Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

por Guangju Zhai, Alexander Teumer, Lisette Stolk, John R B Perry, Liesbeth Vandenput, Andrea D Coviello, Annemarie Koster, Jordana T Bell, Shalender Bhasin, Joel Eriksson, Anna Eriksson, Florian Ernst, Luigi Ferrucci, Timothy M Frayling, Daniel Glass, Elin Grundberg, Robin Haring, Asa K Hedman, Albert Hofman, Douglas P Kiel, Heyo K Kroemer, Yongmei Liu, Kathryn L Lunetta, Marcello Maggio, Mattias Lorentzon, Massimo Mangino, David Melzer, Iva Miljkovic, MuTHER Consortium, Alexandra Nica, Brenda W J H Penninx, Ramachandran S Vasan, Fernando Rivadeneira, Kerrin S Small, Nicole Soranzo, André G Uitterlinden, Henry Völzke, Scott G Wilson, Li Xi, Wei Vivian Zhuang, Tamara B Harris, Joanne M Murabito, Claes Ohlsson, Anna Murray, Frank H de Jong, Tim D Spector, Henri Wallaschofski
Publicado 2011

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

por Ekaterina Yonova-Doing, Wanting Zhao, Robert P. Igo, Chaolong Wang, Periasamy Sundaresan, Kristine E. Lee, Gyungah R. Jun, Alexessander Couto Alves, Xiaoran Chai, Anita S. Y. Chan, Mei Chin Lee, Allan Fong, Ava G. Tan, Chiea Chuen Khor, Emily Y. Chew, Pirro G. Hysi, Qiao Fan, Jacqueline Chua, Jaeyoon Chung, Jiemin Liao, Johanna M. Colijn, Kathryn P. Burdon, Lars G. Fritsche, Maria K. Swift, Maryam H. Hilmy, Miao Ling Chee, Milly Tedja, Pieter W. M. Bonnemaijer, Preeti Gupta, Queenie S. Tan, Zheng Li, Eranga N. Vithana, Ravilla D. Ravindran, Soon-Phaik Chee, Yuan Shi, Wenting Liu, Xinyi Su, Xueling Sim, Yang Shen, Ya Xing Wang, Hengtong Li, Yih-Chung Tham, Yik Ying Teo, Tin Aung, Kerrin S. Small, Paul Mitchell, Jost B. Jonas, Tien Yin Wong, Astrid E. Fletcher, Caroline C. W. Klaver, Barbara E. K. Klein, Jie Jin Wang, Sudha K. Iyengar, Christopher J. Hammond, Ching-Yu Cheng
Publicado 2020

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.

por Tove Fall, Sara Hägg, Reedik Mägi, Alexander Ploner, Krista Fischer, Momoko Horikoshi, Antti-Pekka Sarin, Gudmar Thorleifsson, Claes Ladenvall, Mart Kals, Maris Kuningas, Harmen H M Draisma, Janina S Ried, Natalie R van Zuydam, Ville Huikari, Massimo Mangino, Emily Sonestedt, Beben Benyamin, Christopher P Nelson, Natalia V Rivera, Kati Kristiansson, Huei-Yi Shen, Aki S Havulinna, Abbas Dehghan, Louise A Donnelly, Marika Kaakinen, Marja-Liisa Nuotio, Neil Robertson, Renée F A G de Bruijn, M Arfan Ikram, Najaf Amin, Anthony J Balmforth, Peter S Braund, Alexander S F Doney, Angela Döring, Paul Elliott, Tõnu Esko, Oscar H Franco, Solveig Gretarsdottir, Anna-Liisa Hartikainen, Kauko Heikkilä, Karl-Heinz Herzig, Hilma Holm, Jouke Jan Hottenga, Elina Hyppönen, Thomas Illig, Aaron Isaacs, Bo Isomaa, Lennart C Karssen, Johannes Kettunen, Wolfgang Koenig, Kari Kuulasmaa, Tiina Laatikainen, Jaana Laitinen, Cecilia Lindgren, Valeriya Lyssenko, Esa Läärä, Nigel W Rayner, Satu Männistö, Anneli Pouta, Wolfgang Rathmann, Fernando Rivadeneira, Aimo Ruokonen, Markku J Savolainen, Eric J G Sijbrands, Kerrin S Small, Jan H Smit, Valgerdur Steinthorsdottir, Ann-Christine Syvänen, Anja Taanila, Martin D Tobin, Andre G Uitterlinden, Sara M Willems, Gonneke Willemsen, Jacqueline Witteman, Markus Perola, Alun Evans, Jean Ferrières, Jarmo Virtamo, Frank Kee, David-Alexandre Tregouet, Dominique Arveiler, Philippe Amouyel, Marco M Ferrario, Paolo Brambilla, Alistair S Hall, Andrew C Heath, Pamela A F Madden, Nicholas G Martin, Grant W Montgomery, John B Whitfield, Antti Jula, Paul Knekt, Ben Oostra, Cornelia M van Duijn, Brenda W J H Penninx, George Davey Smith, Jaakko Kaprio, Nilesh J Samani, Christian Gieger, Annette Peters, H Erich Wichmann, Dorret I Boomsma, Eco J C de Geus, TiinaMaija Tuomi, Chris Power, Christopher J Hammond, Tim D Spector, Lars Lind, Marju Orho-Melander, Colin Neil Alexander Palmer, Andrew D Morris, Leif Groop, Marjo-Riitta Järvelin, Veikko Salomaa, Erkki Vartiainen, Albert Hofman, Samuli Ripatti, Andres Metspalu, Unnur Thorsteinsdottir, Kari Stefansson, Nancy L Pedersen, Mark I McCarthy, Erik Ingelsson, Inga Prokopenko, European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium
Publicado 2013

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

por Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Publicado 2021