Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

by Southam, Lorraine, Gilly, Arthur, Süveges, Dániel, Farmaki, Aliki-Eleni, Schwartzentruber, Jeremy, Tachmazidou, Ioanna, Matchan, Angela, Rayner, Nigel W, Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Published in Nature communications

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

by Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V R, Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W, Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Published in Nature communications

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

by Tachmazidou, Ioanna, Dedoussis, George, Southam, Lorraine, Farmaki, Aliki-Eleni, Ritchie, Graham R S, Xifara, Dionysia K, Matchan, Angela, Hatzikotoulas, Konstantinos, Rayner, Nigel W, Chen, Yuan, Pollin, Toni I, O'Connell, Jeffrey R, Yerges-Armstrong, Laura M, Kiagiadaki, Chrysoula, Panoutsopoulou, Kalliope, Schwartzentruber, Jeremy, Moutsianas, Loukas, Tsafantakis, Emmanouil, Tyler-Smith, Chris, McVean, Gil, Xue, Yali, Zeggini, Eleftheria
Published in Nature communications

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

by Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V R, Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W, Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Published in Nature communications

Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study

by Mamakou, Vasiliki, Hackinger, Sophie, Zengini, Eleni, Tsompanaki, Evgenia, Marouli, Eirini, Serafetinidis, Ioannis, Prins, Bram, Karabela, Athina, Glezou, Eirini, Southam, Lorraine, Rayner, Nigel W, Kuchenbaecker, Karoline, Lamnissou, Klea, Kontaxakis, Vassilis, Dedoussis, George, Gonidakis, Fragiskos, Thanopoulou, Anastasia, Tentolouris, Nikolaos, Zeggini, Eleftheria
Published in BMC psychiatry

MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven

by Rantalainen, Mattias, Herrera, Blanca M, Nicholson, George, Bowden, Rory, Wills, Quin F, Min, Josine L, Neville, Matt J, Barrett, Amy, Allen, Maxine, Rayner, Nigel W, Fleckner, Jan, McCarthy, Mark I, Zondervan, Krina T, Karpe, Fredrik, Holmes, Chris C, Lindgren, Cecilia M
Published in PloS one

BMI-associated alleles do not constitute risk alleles for polycystic ovary syndrome independently of BMI: a case-control study

by Louwers, Yvonne V, Rayner, Nigel W, Herrera, Blanca M, Stolk, Lisette, Groves, Christopher J, Barber, Thomas M, Uitterlinden, Andre G, Franks, Stephen, Laven, Joop S E, McCarthy, Mark I
Published in PloS one

THOC5: a novel gene involved in HDL-cholesterol metabolism[S]

by Keller, Maria, Schleinitz, Dorit, Förster, Julia, Tönjes, Anke, Böttcher, Yvonne, Fischer-Rosinsky, Antje, Breitfeld, Jana, Weidle, Kerstin, Rayner, Nigel W., Burkhardt, Ralph, Enigk, Beate, Müller, Ines, Halbritter, Jan, Koriath, Moritz, Pfeiffer, Andreas, Krohn, Knut, Groop, Leif, Spranger, Joachim, Stumvoll, Michael, Kovacs, Peter
Published in Journal of lipid research

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

by Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Southam, Lorraine, Rayner, Nigel W, Day-Williams, Aaron G, Lopes, Margarida C, Boraska, Vesna, Esko, Tonu, Evangelou, Evangelos, Hoffman, Albert, Houwing-Duistermaat, Jeanine J, Ingvarsson, Thorvaldur, Jonsdottir, Ingileif, Jonnson, Helgi, Kerkhof, Hanneke J, Kloppenburg, Margreet, Bos, Steffan D, Mangino, Massimo, Metrustry, Sarah, Slagboom, P Eline, Thorleifsson, Gudmar, Raine, Emma V A, Ratnayake, Madhushika, Ricketts, Michelle, Beazley, Claude, Blackburn, Hannah, Bumpstead, Suzannah, Elliott, Katherine S, Hunt, Sarah E, Potter, Simon C, Shin, So-Youn, Yadav, Vijay K, Zhai, Guangju, Sherburn, Kate, Dixon, Kate, Arden, Elizabeth, Aslam, Nadim, Battley, Phillippa-kate, Carluke, Ian, Doherty, Sally, Gordon, Andrew, Joseph, John, Keen, Richard, Koller, Nicola C, Mitchell, Sheryl, O'Neill, Fiona, Paling, Ellen, Reed, Mike R, Rivadeneira, Fernando, Swift, Diane, Walker, Kirsten, Watkins, Bridget, Wheeler, Maggie, Birrell, Fraser, Ioannidis, John P A, Meulenbelt, Ingrid, Metspalu, Andres, Rai, Ashok, Salter, Donald, Stefansson, Kari, Stykarsdottir, Unnur, Uitterlinden, André G, van Meurs, Joyce B J, Chapman, Kay, Deloukas, Panos, Ollier, William E R, Wallis, Gillian A, Arden, Nigel, Carr, Andrew, Doherty, Michael, McCaskie, Andrew, Willkinson, J Mark, Ralston, Stuart H, Valdes, Ana M, Spector, Tim D, Loughlin, John
Published in The Lancet (British edition)

Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes

by Boraska, Vesna, Rayner, Nigel W, Groves, Christopher J, Frayling, Timothy M, Diakite, Mahamadou, Rockett, Kirk A, Kwiatkowski, Dominic P, Day-Williams, Aaron G, McCarthy, Mark I, Zeggini, Eleftheria
Published in BMC genetics

A Variant in MCF2L Is Associated with Osteoarthritis

by Day-Williams, Aaron G., Southam, Lorraine, Panoutsopoulou, Kalliope, Rayner, Nigel W., Esko, Tonu, Estrada, Karol, Helgadottir, Hafdis T., Hofman, Albert, Ingvarsson, Throvaldur, Jonsson, Helgi, Keis, Aime, Kerkhof, Hanneke J.M., Thorleifsson, Gudmar, Arden, Nigel K., Carr, Andrew, Chapman, Kay, Deloukas, Panos, Loughlin, John, McCaskie, Andrew, Ollier, William E.R., Ralston, Stuart H., Spector, Timothy D., Wallis, Gillian A., Wilkinson, J. Mark, Aslam, Nadim, Birell, Fraser, Carluke, Ian, Joseph, John, Rai, Ashok, Reed, Mike, Walker, Kirsten, Doherty, Sally A., Jonsdottir, Ingileif, Maciewicz, Rose A., Muir, Kenneth R., Metspalu, Andres, Rivadeneira, Fernando, Stefansson, Kari, Styrkarsdottir, Unnur, Uitterlinden, Andre G., van Meurs, Joyce B.J., Zhang, Weiya, Valdes, Ana M., Doherty, Michael, Zeggini, Eleftheria
Published in American journal of human genetics

A Dietary Pattern with High Sugar Content Is Associated with Cardiometabolic Risk Factors in the Pomak Population

by Farmaki, Aliki-Eleni, Rayner, Nigel W, Kafyra, Maria, Matchan, Angela, Ntaoutidou, Kyriaki, Feritoglou, Pournar, Athanasiadis, Antonis, Gilly, Arthur, Mamakou, Vasiliki, Zengini, Eleni, Karaleftheri, Maria, Zeggini, Eleftheria, Dedoussis, George
Published in Nutrients

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

by Panoutsopoulou, Kalliope, Hatzikotoulas, Konstantinos, Xifara, Dionysia Kiara, Colonna, Vincenza, Farmaki, Aliki-Eleni, Ritchie, Graham R S, Southam, Lorraine, Gilly, Arthur, Tachmazidou, Ioanna, Fatumo, Segun, Matchan, Angela, Rayner, Nigel W, Ntalla, Ioanna, Mezzavilla, Massimo, Chen, Yuan, Kiagiadaki, Chrysoula, Zengini, Eleni, Mamakou, Vasiliki, Athanasiadis, Antonis, Giannakopoulou, Margarita, Kariakli, Vassiliki-Eirini, Nsubuga, Rebecca N, Karabarinde, Alex, Sandhu, Manjinder, McVean, Gil, Tyler-Smith, Chris, Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Published in Nature communications

Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

by TÖNJES, Anke, ZEGGINI, Eleftheria, ESZLINGER, Markus, KEMPPINEN, Anu, PROKOPENKO, Inga, HOFFMANN, Katrin, TEUPSER, Daniel, THIERY, Joachim, KROHN, Knut, MCCARTHY, Mark I, STUMVOLL, Michael, KOVACS, Peter, BÖTTCHER, Yvonne, SCHLEINITZ, Dorit, DIETRICH, Kerstin, MORRIS, Andrew P, ENIGK, Beate, RAYNER, Nigel W, KORIATH, Moritz
Published in European journal of human genetics : EJHG

Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs

by Tönjes, Anke, Koriath, Moritz, Schleinitz, Dorit, Dietrich, Kerstin, Böttcher, Yvonne, Rayner, Nigel W., Almgren, Peter, Enigk, Beate, Richter, Olaf, Rohm, Silvio, Fischer-Rosinsky, Antje, Pfeiffer, Andreas, Hoffmann, Katrin, Krohn, Knut, Aust, Gabriela, Spranger, Joachim, Groop, Leif, Blüher, Matthias, Kovacs, Peter, Stumvoll, Michael
Published in Human molecular genetics

Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes

by Min, Josine L, Nicholson, George, Halgrimsdottir, Ingileif, Almstrup, Kristian, Petri, Andreas, Barrett, Amy, Travers, Mary, Rayner, Nigel W, Mägi, Reedik, Pettersson, Fredrik H, Broxholme, John, Neville, Matt J, Wills, Quin F, Cheeseman, Jane, Allen, Maxine, Holmes, Chris C, Spector, Tim D, Fleckner, Jan, McCarthy, Mark I, Karpe, Fredrik, Lindgren, Cecilia M, Zondervan, Krina T
Published in PLoS genetics

Family-based analysis of tumor necrosis factor and lymphotoxin-α tag polymorphisms with type 1 diabetes in the population of South Croatia

by Boraska, Vesna, Zeggini, Eleftheria, Groves, Christopher J, Rayner, Nigel W, Škrabić, Veselin, Diakite, Mahamadou, Rockett, Kirk A, Kwiatkowski, Dominic, McCarthy, Mark I, Zemunik, Tatijana
Published in Human immunology

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

by Winkler, Thomas W, Feitosa, Mary F, Esko, Tõnu, Kilpeläinen, Tuomas O, Rüeger, Sina, Ferreira, Teresa, Absher, Devin, Bis, Joshua C, Fischer, Krista, Galesloot, Tessel E, Goel, Anuj, Gustafsson, Stefan, Haitjema, Saskia, Lahti, Jari, McKnight, Barbara, Monda, Keri L, Montasser, May E, Ryan, Kathy A, Scharnagl, Hubert, Sung, Yun Ju, van Setten, Jessica, van Vliet-Ostaptchouk, Jana V, Verweij, Niek, Zhao, Jing Hua, Andersson, Ehm A, Baldassarre, Damiano, Barlassina, Cristina, Campbell, Harry, Chen, Yii-Der Ida, Chines, Peter S, Claudi-Boehm, Simone, de Geus, Eco J C, Eury, Elodie, Friedrich, Nele, Grallert, Harald, Ham, Annelies C, Hansen, Torben, Hattersley, Andrew T, Hernandez, Dena, Hillege, Hans, Holmen, Oddgeir, Karaleftheri, Maria, Kinnunen, Leena, Kovacs, Peter, Kratzer, Wolfgang, Kuh, Diana, Kyriakou, Theodosios, Liu, Yan-Ping, Lyssenko, Valeriya, Männistö, Satu, Montgomery, Grant W, Morris, Andrew P, Ong, Ken K, Pilia, Maria G, Sanders, Alan R, Seufferlein, Thomas, Slagboom, P Eline, Stolk, Ronald P, Tsafantakis, Emmanouil, van der Most, Peter J, Völker, Uwe, Vonk, Judith M, Wennauer, Roman, Beilby, John, Boerwinkle, Eric, Bornstein, Stefan R, Chambers, John C, Farrall, Martin, Ford, Ian, Franke, Lude, Hofman, Albert, Hu, Frank, James, Alan L, Kajantie, Eero, Kivimaki, Mika, Maerz, Winfried, Martin, Nicholas G, Laakso, Markku, Melbye, Mads, Murray, Jeffrey C, Musk, Arthur W, Nieminen, Markku S, Njølstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J, Pasterkamp, Gerard, Pedersen, Oluf, Qi, Lu, Rauramaa, Rainer, Saltevo, Juha, Snieder, Harold, Spector, Tim D, Völzke, Henry, Wareham, Nicholas J, Assimes, Themistocles L, Berndt, Sonja I, Hunter, David J, van Duijn, Cornelia M, North, Kari E, Loos, Ruth J F
Published in PLoS genetics

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

by Tachmazidou, Ioanna, Süveges, Dániel, Min, Josine L., Ritchie, Graham R.S., Steinberg, Julia, Walter, Klaudia, Iotchkova, Valentina, Schwartzentruber, Jeremy, Huang, Jie, Memari, Yasin, McCarthy, Shane, Crawford, Andrew A., Bombieri, Cristina, Cocca, Massimiliano, Farmaki, Aliki-Eleni, Gaunt, Tom R., Jousilahti, Pekka, Kooijman, Marjolein N., Lehne, Benjamin, Malerba, Giovanni, Männistö, Satu, Matchan, Angela, Medina-Gomez, Carolina, Metrustry, Sarah J., Nag, Abhishek, Ntalla, Ioanna, Paternoster, Lavinia, Rayner, Nigel W., Sala, Cinzia, Scott, William R., Shihab, Hashem A., Southam, Lorraine, St Pourcain, Beate, Traglia, Michela, Trajanoska, Katerina, Zaza, Gialuigi, Zhang, Weihua, Artigas, María S., Bansal, Narinder, Benn, Marianne, Chen, Zhongsheng, Danecek, Petr, Lin, Wei-Yu, Locke, Adam, Luan, Jian’an, Manning, Alisa K., Mulas, Antonella, Sidore, Carlo, Tybjaerg-Hansen, Anne, Varbo, Anette, Zoledziewska, Magdalena, Finan, Chris, Hatzikotoulas, Konstantinos, Hendricks, Audrey E., Kemp, John P., Moayyeri, Alireza, Panoutsopoulou, Kalliope, Szpak, Michal, Wilson, Scott G., Boehnke, Michael, Cucca, Francesco, Di Angelantonio, Emanuele, Langenberg, Claudia, Lindgren, Cecilia, McCarthy, Mark I., Morris, Andrew P., Nordestgaard, Børge G., Scott, Robert A., Tobin, Martin D., Burton, Paul, Chambers, John C., Smith, George Davey, Dedoussis, George, Felix, Janine F., Franco, Oscar H., Gambaro, Giovanni, Gasparini, Paolo, Hammond, Christopher J., Hofman, Albert, Jaddoe, Vincent W.V., Kleber, Marcus, Kooner, Jaspal S., Perola, Markus, Relton, Caroline, Ring, Susan M., Rivadeneira, Fernando, Salomaa, Veikko, Spector, Timothy D., Stegle, Oliver, Toniolo, Daniela, Uitterlinden, André G., Barroso, Inês, Greenwood, Celia M.T., Walker, Brian R., Xue, Yali, Durbin, Richard, Small, Kerrin S., Soranzo, Nicole, Timpson, Nicholas J., Zeggini, Eleftheria
Published in American journal of human genetics

Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

by Frayling, Timothy M, Timpson, Nicholas J, Weedon, Michael N, Zeggini, Eleftheria, Freathy, Rachel M, Lindgren, Cecilia M, Perry, John R.B, Elliott, Katherine S, Lango, Hana, Rayner, Nigel W, Shields, Beverley, Harries, Lorna W, Barrett, Jeffrey C, Ellard, Sian, Groves, Christopher J, Knight, Bridget, Patch, Ann-Marie, Ness, Andrew R, Ebrahim, Shah, Lawlor, Debbie A, Ring, Susan M, Ben-Shlomo, Yoav, Jarvelin, Marjo-Riitta, Sovio, Ulla, Bennett, Amanda J, Melzer, David, Ferrucci, Luigi, Loos, Ruth J.F, Barroso, Inês, Wareham, Nicholas J, Karpe, Fredrik, Owen, Katharine R, Cardon, Lon R, Walker, Mark, Hitman, Graham A, Palmer, Colin N.A, Doney, Alex S.F, Morris, Andrew D, Smith, George Davey, Hattersley, Andrew T, McCarthy, Mark I
Published in Science (American Association for the Advancement of Science)