Now showing items 1-15 of 15

    • Amino Acid Position 11 of HLA-DRβ1 is a Major Determinant of Chromosome 6p Association with Ulcerative Colitis 

      Achkar, Jean-Paul; Klei, Lambertus; de Bakker, Paul I Wen; Bellone, Gaia; Rebert, Nancy; Scott, Regan; Lu, Ying; Regueiro, Miguel; Brzezinski, Aaron; Kamboh, M. Ilyas; Fiocchi, Claudio; Devlin, Bernie; Trucco, Massimo; Ringquist, Steven; Roeder, Kathryn; Duerr, Richard H (2012)
      The major histocompatibility complex (MHC) on chromosome 6p is an established risk locus for ulcerative colitis (UC) and Crohn’s disease (CD). We aimed to better define MHC association signals in UC and CD by combining ...
    • Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies 

      Nolte, Ilja M.; Wallace, Chris; Newhouse, Stephen J.; Waggott, Daryl; Fu, Jingyuan; Soranzo, Nicole; Gwilliam, Rhian; Deloukas, Panos; Savelieva, Irina; Zheng, Dongling; Dalageorgou, Chrysoula; Farrall, Martin; Samani, Nilesh J.; Brown, Morris; Dominiczak, Anna; Lathrop, Mark; Zeggini, Eleftheria; Wain, Louise V.; Eijgelsheim, Mark; Pfeufer, Arne; Sanna, Serena; Arking, Dan E.; Asselbergs, Folkert W.; Spector, Tim D.; Carter, Nicholas D.; Jeffery, Steve; Tobin, Martin; Caulfield, Mark; Snieder, Harold; Munroe, Patricia B.; Jamshidi, Yalda; Connell, John; Newton-Cheh, Christopher Holmes; Rice, Kenneth Robert; de Bakker, Paul I Wen; Paterson, Andrew D. (Public Library of Science, 2009)
      To identify loci affecting the electrocardiographic QT interval, a measure of cardiac repolarisation associated with risk of ventricular arrhythmias and sudden cardiac death, we conducted a meta-analysis of three genome-wide ...
    • Common Missense Variant in the Glucokinase Regulatory Protein Gene Is Associated With Increased Plasma Triglyceride and C-Reactive Protein but Lower Fasting Glucose Concentrations 

      Orho-Melander, Marju; Melander, Olle; Guiducci, Candace; Perez-Martinez, Pablo; Corella, Dolores; Roos, Charlotta; Tewhey, Ryan; Rieder, Mark J.; Hall, Jennifer; Abecasis, Goncalo; Tai, E. Shyong; Welch, Cullan; Arnett, Donna K.; Lyssenko, Valeriya; Lindholm, Eero; Burtt, Noel; Voight, Benjamin F.; Tucker, Katherine L.; Hedner, Thomas; Tuomi, Tiinamaija; Isomaa, Bo; Eriksson, Karl-Fredrik; Taskinen, Marja-Riitta; Wahlstrand, Björn; Hughes, Thomas E.; Parnell, Laurence D.; Lai, Chao-Qiang; Berglund, Göran; Peltonen, Leena; Vartiainen, Erkki; Jousilahti, Pekka; Havulinna, Aki S.; Salomaa, Veikko; Nilsson, Peter; Groop, Leif; Ordovas, Jose M.; Kathiresan, Sekar; Saxena, Richa; de Bakker, Paul I Wen; Hirschhorn, Joel Naom; Altshuler, David Matthew (American Diabetes Association, 2008)
      Objective: Using the genome-wide association approach, we recently identified the glucokinase regulatory protein gene (GCKR, rs780094) region as a novel quantitative trait locus for plasma triglyceride concentration in ...
    • Common Variants in 40 Genes Assessed for Diabetes Incidence and Response to Metformin and Lifestyle Intervention in the Diabetes Prevention Program 

      Jablonski, Kathleen A.; McAteer, Jarred B.; Franks, Paul W.; Pollin, Toni I.; Hanson, Robert L.; Fowler, Sarah; Shuldiner, Alan R.; Knowler, William C.; de Bakker, Paul I Wen; Saxena, Richa; Altshuler, David Matthew; Florez, Jose Carlos (American Diabetes Association, 2010)
      OBJECTIVE: Genome-wide association studies have begun to elucidate the genetic architecture of type 2 diabetes. We examined whether single nucleotide polymorphisms (SNPs) identified through targeted complementary approaches ...
    • Comparative Modelling by Restraint-Based Conformational Sampling 

      Furnham, Nicholas; de Bakker, Paul I Wen; Gore, Swanand; Burke, David F; Blundell, Tom L (BioMed Central, 2008)
      Background: Although comparative modelling is routinely used to produce three-dimensional models of proteins, very few automated approaches are formulated in a way that allows inclusion of restraints derived from experimental ...
    • Concept, Design and Implementation of a Cardiovascular Gene-centric 50 K SNP Array for Large-scale Genomic Association Studies 

      Keating, Brendan J.; Tischfield, Sam; Murray, Sarah S.; Bhangale, Tushar; Price, Thomas S.; Glessner, Joseph T.; Galver, Luana; Barrett, Jeffrey C.; Grant, Struan F. A.; Farlow, Deborah N.; Chandrupatla, Hareesh R.; Ajmal, Saad; Papanicolaou, George J.; Guo, Yiran; Li, Mingyao; DerOhannessian, Stephanie; Bailey, Swneke D.; Montpetit, Alexandre; Edmondson, Andrew C.; Taylor, Kent; Gai, Xiaowu; Wang, Susanna S.; Fornage, Myriam; Shaikh, Tamim; Groop, Leif; Boehnke, Michael; Hall, Alistair S.; Hattersley, Andrew T.; Frackelton, Edward; Patterson, Nick; Chiang, Charleston W. K.; Kim, Cecelia E.; Fabsitz, Richard R.; Ouwehand, Willem; Munroe, Patricia; Caulfield, Mark; Drake, Thomas; Boerwinkle, Eric; Whitehead, A. Stephen; Cappola, Thomas P.; Samani, Nilesh J.; Lusis, A. Jake; Schadt, Eric; Wilson, James G.; Koenig, Wolfgang; McCarthy, Mark I.; Kathiresan, Sekar; Gabriel, Stacey B.; Hakonarson, Hakon; Anand, Sonia S.; Reilly, Muredach; Engert, James C.; Nickerson, Deborah A.; Rader, Daniel J.; FitzGerald, Garret A.; Reitsma, Pieter H.; Hansen, Mark; de Bakker, Paul I Wen; Price, Alkes; Reich, David Emil; Hirschhorn, Joel Naom (Public Library of Science, 2008)
      A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide association studies ...
    • Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency 

      Kiezun, Adam; Pulit, Sara L.; Francioli, Laurent C.; van Dijk, Freerk; Swertz, Morris; Boomsma, Dorret I.; van Duijn, Cornelia M.; Slagboom, P. Eline; van Ommen, G. J. B.; Wijmenga, Cisca; de Bakker, Paul I Wen; Sunyaev, Shamil R. (Public Library of Science, 2013)
      Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect ...
    • Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms 

      Monsuur, Alienke J.; Zhernakova, Alexandra; Pinto, Dalila; Verduijn, Willem; Romanos, Jihane; Auricchio, Renata; Lopez, Ana; van Heel, David A.; Crusius, J. Bart A; Wijmenga, Cisca; de Bakker, Paul I Wen (Public Library of Science, 2008)
      Background: The HLA genes, located in the MHC region on chromosome 6p21.3, play an important role in many autoimmune disorders, such as celiac disease (CD), type 1 diabetes (T1D), rheumatoid arthritis, multiple sclerosis, ...
    • Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma 

      Cerhan, James R.; Berndt, Sonja I.; Vijai, Joseph; Ghesquières, Hervé; McKay, James; Wang, Sophia S.; Wang, Zhaoming; Yeager, Meredith; Conde, Lucia; de Bakker, Paul; Nieters, Alexandra; Cox, David; Burdett, Laurie; Monnereau, Alain; Flowers, Christopher R.; De Roos, Anneclaire J.; Brooks-Wilson, Angela R.; Lan, Qing; Severi, Gianluca; Melbye, Mads; Gu, Jian; Jackson, Rebecca D.; Kane, Eleanor; Teras, Lauren R.; Purdue, Mark P.; Vajdic, Claire M.; Spinelli, John J.; Giles, Graham G.; Albanes, Demetrius; Kelly, Rachel; Zucca, Mariagrazia; Bertrand, Kimberly Anne; Zeleniuch-Jacquotte, Anne; Lawrence, Charles; Hutchinson, Amy; Zhi, Degui; Habermann, Thomas M.; Link, Brian K.; Novak, Anne J.; Dogan, Ahmet; Asmann, Yan W.; Liebow, Mark; Thompson, Carrie A.; Ansell, Stephen M.; Witzig, Thomas E.; Weiner, George J.; Veron, Amelie S.; Zelenika, Diana; Tilly, Hervé; Haioun, Corinne; Molina, Thierry Jo; Hjalgrim, Henrik; Glimelius, Bengt; Adami, Hans-Olov; Bracci, Paige M.; Riby, Jacques; Smith, Martyn T.; Holly, Elizabeth A.; Cozen, Wendy; Hartge, Patricia; Morton, Lindsay M.; Severson, Richard K.; Tinker, Lesley F.; North, Kari E.; Becker, Nikolaus; Benavente, Yolanda; Boffetta, Paolo; Brennan, Paul; Foretova, Lenka; Maynadie, Marc; Staines, Anthony; Lightfoot, Tracy; Crouch, Simon; Smith, Alex; Roman, Eve; Diver, W. Ryan; Offit, Kenneth; Zelenetz, Andrew; Klein, Robert J.; Villano, Danylo J.; Zheng, Tongzhang; Zhang, Yawei; Holford, Theodore R.; Kricker, Anne; Turner, Jenny; Southey, Melissa C.; Clavel, Jacqueline; Virtamo, Jarmo; Weinstein, Stephanie; Riboli, Elio; Vineis, Paolo; Kaaks, Rudolph; Trichopoulos, Dimitrios; Vermeulen, Roel C. H.; Boeing, Heiner; Tjonneland, Anne; Angelucci, Emanuele; Di Lollo, Simonetta; Rais, Marco; Birmann, Brenda Melanie; Laden, Francine; Giovannucci, Edward L.; Kraft, Phillip L.; Huang, Jinyan; Ma, Baoshan; Ye, Yuanqing; Chiu, Brian C. H.; Sampson, Joshua; Liang, Liming; Park, Ju-Hyun; Chung, Charles C.; Weisenburger, Dennis D.; Chatterjee, Nilanjan; Fraumeni Jr, Joseph F.; Slager, Susan L.; Wu, Xifeng; de Sanjose, Silvia; Smedby, Karin E.; Salles, Gilles; Skibola, Christine F.; Rothman, Nathaniel; Chanock, Stephen J. (Nature Publishing Group, 2014)
      Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of three new genome-wide association ...
    • GWAS Identifies Novel Susceptibility Loci on 6p21.32 and 21q21.3 for Hepatocellular Carcinoma in Chronic Hepatitis B Virus Carriers 

      Li, Shengping; Qian, Ji; Zhao, Wanting; Dai, Juncheng; Bei, Jin-Xin; Foo, Jia Nee; McLaren, Paul J.; Li, Zhiqiang; Yang, Jingmin; Shen, Feng; Yang, Jiamei; Li, Shuhong; Pan, Shandong; Li, Wenjin; Zhai, Xiangjun; Zhou, Boping; Shi, Lehua; Chen, Xinchun; Chu, Minjie; Yan, Yiqun; Cheng, Shuqun; Shen, Jiawei; Jia, Weihua; Liu, Jibin; Yang, Jiahe; Wen, Zujia; Li, Aijun; Zhang, Guoliang; Luo, Xianrong; Qin, Hongbo; Chen, Minshan; Lin, Dongxin; Shen, Hongbing; Wang, Hongyang; Zeng, Yi-Xin; Wu, Mengchao; Hu, Zhibin; Shi, Yongyong; Liu, Jianjun; Zhou, Weiping; Yang, Yuan; Liu, Li; Wang, Yi; Wang, Jun; Zhang, Ying; Wang, Hua; Jin, Li; He, Lin; de Bakker, Paul I. Wen (Public Library of Science, 2012)
      Genome-wide association studies (GWAS) have recently identified KIF1B as susceptibility locus for hepatitis B virus (HBV)–related hepatocellular carcinoma (HCC). To further identify novel susceptibility loci associated ...
    • Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci 

      Zhernakova, Alexandra; Stahl, Eli A.; Trynka, Gosia; Festen, Eleanora A.; Franke, Lude; Westra, Harm-Jan; Fehrmann, Rudolf S. N.; Kurreeman, Fina A. S.; Thomson, Brian; Gupta, Namrata; Romanos, Jihane; McManus, Ross; Ryan, Anthony W.; Turner, Graham; Brouwer, Elisabeth; Posthumus, Marcel D.; Remmers, Elaine F.; Tucci, Francesca; Toes, Rene; Grandone, Elvira; Mazzilli, Maria Cristina; Rybak, Anna; Cukrowska, Bozena; Coenen, Marieke J. H.; Radstake, Timothy R. D. J.; van Riel, Piet L. C. M.; Li, Yonghong; Gregersen, Peter K.; Worthington, Jane; Siminovitch, Katherine A.; Klareskog, Lars; Huizinga, Tom W. J.; Wijmenga, Cisca; Raychaudhuri, Soumya; de Bakker, Paul I Wen; Plenge, Robert M. (Public Library of Science, 2011)
      Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD) and rheumatoid arthritis (RA), but the extent of this sharing has not been systematically explored. Previous studies demonstrate ...
    • Modeling the Cumulative Genetic Risk for Multiple Sclerosis from Genome-Wide Association Data 

      Wang, Joanne H; Pappas, Derek; Pelletier, Daniel; Kappos, Ludwig; Polman, Chris H; Matthews, Paul M; Hauser, Stephen L; Baranzini, Sergio E; Oksenberg, Jorge R; De Jager, Philip Lawrence; de Bakker, Paul I Wen; Chibnik, Lori; Hafler, David A. (BioMed Central, 2011)
      Background: Multiple sclerosis (MS) is the most common cause of chronic neurologic disability beginning in early to middle adult life. Results from recent genome-wide association studies (GWAS) have substantially lengthened ...
    • Multiethnic Genetic Association Studies Improve Power for Locus Discovery 

      Pulit, Sara L.; Voight, Benjamin F.; de Bakker, Paul I Wen (Public Library of Science, 2010)
      To date, genome-wide association studies have focused almost exclusively on populations of European ancestry. These studies continue with the advent of next-generation sequencing, designed to systematically catalog and ...
    • Negative selection in humans and fruit flies involves synergistic epistasis 

      Sohail, Mashaal; Vakhrusheva, Olga A; Sul, Jae; Pulit, Sara; Francioli, Laurent Carlo; van den Berg, Leonard H; Veldink, Jan H; de Bakker, Paul I Wen; Bazykin, Georgii A; Kondrashov, Alexey S; Sunyaev, Shamil R. (Cold Spring Harbor Laboratory, 2016-07-29)
      <jats:title>Abstract</jats:title><jats:p>Negative selection against deleterious alleles produced by mutation is the most common form of natural selection, which strongly influences within-population variation and interspecific ...
    • Novel Loci for Metabolic Networks and Multi-Tissue Expression Studies Reveal Genes for Atherosclerosis 

      Inouye, Michael; Ripatti, Samuli; Kettunen, Johannes; Lyytikäinen, Leo-Pekka; Oksala, Niku; Laurila, Pirkka-Pekka; Kangas, Antti J.; Soininen, Pasi; Savolainen, Markku J.; Viikari, Jorma; Kähönen, Mika; Perola, Markus; Salomaa, Veikko; Raitakari, Olli; Lehtimäki, Terho; Taskinen, Marja-Riitta; Järvelin, Marjo-Riitta; Ala-Korpela, Mika; Palotie, Aarno; de Bakker, Paul I Wen (Public Library of Science, 2012)
      Association testing of multiple correlated phenotypes offers better power than univariate analysis of single traits. We analyzed 6,600 individuals from two population-based cohorts with both genome-wide SNP data and serum ...