Now showing items 1-20 of 28

    • Admixture Mapping Scans Identify a Locus Affecting Retinal Vascular Caliber in Hypertensive African Americans: The Atherosclerosis Risk in Communities (ARIC) Study 

      Cheng, Ching-Yu; Wong, Tien Y.; Klein, Ronald; Klein, Barbara E. K.; Patterson, Nick; Li, Man; Boerwinkle, Eric; Sharrett, A. Richey; Reich, David Emil; Tandon, Arti; Kao, W. H. Linda (Public Library of Science, 2010)
      Retinal vascular caliber provides information about the structure and health of the microvascular system and is associated with cardiovascular and cerebrovascular diseases. Compared to European Americans, African Americans ...
    • African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts 

      Cheng, Ching-Yu; Haiman, Christopher A.; Patterson, Nick; Elizabeth, Selvin; Akylbekova, Ermeg L.; Brancati, Frederick L.; Coresh, Josef; Boerwinkle, Eric; Taylor, Herman A.; Henderson, Brian E.; Wilson, James G.; Reich, David Emil; Tandon, Arti; Altshuler, David Matthew; Kao, W. H. Linda (Public Library of Science, 2012)
      The risk of type 2 diabetes is approximately 2-fold higher in African Americans than in European Americans even after adjusting for known environmental risk factors, including socioeconomic status (SES), suggesting that ...
    • Aging and Environmental Exposures Alter Tissue-Specific DNA Methylation Dependent upon CpG Island Context 

      Christensen, Brock C.; Marsit, Carmen J.; Zheng, Shichun; Wrensch, Margaret R.; Wiemels, Joseph L.; Nelson, Heather H.; Karagas, Margaret R.; Padbury, James F.; Yeh, Ru-Fang; Wiencke, John K.; Kelsey, Karl T.; Houseman, Eugene Andres; Bueno, Raphael; Sugarbaker, David John (Public Library of Science, 2009)
      Epigenetic control of gene transcription is critical for normal human development and cellular differentiation. While alterations of epigenetic marks such as DNA methylation have been linked to cancers and many other human ...
    • Amerind Ancestry, Socioeconomic Status and the Genetics of Type 2 Diabetes in a Colombian Population 

      Campbell, Desmond D.; Parra, Maria V.; Duque, Constanza; Gallego, Natalia; Franco, Liliana; Hünemeier, Tábita; Bortolini, Cátira; Villegas, Alberto; Bedoya, Gabriel; McCarthy, Mark I.; Ruiz-Linares, Andrés; Tandon, Arti; Price, Alkes; Reich, David Emil (Public Library of Science, 2012)
      The “thrifty genotype” hypothesis proposes that the high prevalence of type 2 diabetes (T2D) in Native Americans and admixed Latin Americans has a genetic basis and reflects an evolutionary adaptation to a past low ...
    • Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world 

      Morrison, Margaux A.; Magalhaes, Tiago R.; Ramke, Jacqueline; Smith, Silvia E.; Ennis, Sean; Simpson, Claire L.; Portas, Laura; Murgia, Federico; Ahn, Jeeyun; Dardenne, Caitlin; Mayne, Katie; Robinson, Rosann; Morgan, Denise J.; Brian, Garry; Lee, Lucy; Woo, Se J.; Zacharaki, Fani; Tsironi, Evangelia E.; Miller, Joan W.; Kim, Ivana K.; Park, Kyu H.; Bailey-Wilson, Joan E.; Farrer, Lindsay A.; Stambolian, Dwight; DeAngelis, Margaret M. (Frontiers Media S.A., 2015)
      We observed that the third leading cause of blindness in the world, age-related macular degeneration (AMD), occurs at a very low documented frequency in a population-based cohort from Timor-Leste. Thus, we determined a ...
    • Association of PCSK1 rs6234 with Obesity and Related Traits in a Chinese Han Population 

      Li, Huaixing; Loos, Ruth J. F.; Wu, Hongyu; Yu, Zhijie; Lin, Xu; Zhang, Cuilin; Qi, Qibin; Liu, Chen; Hu, Frank B. (Public Library of Science, 2010)
      Background: Common variants in PCSK1 have been reported to be associated with obesity in populations of European origin. We aimed to replicate this association in Chinese. Methodology/Principal Findings: Two PCSK1 variants ...
    • Causal Relationship Between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts 

      Vimaleswaran, Karani S.; Berry, Diane J.; Lu, Chen; Tikkanen, Emmi; Pilz, Stefan; Hiraki, Linda T; Cooper, Jason D.; Dastani, Zari; Li, Rui; Houston, Denise K.; Wood, Andrew R.; Michaëlsson, Karl; Vandenput, Liesbeth; Zgaga, Lina; Yerges-Armstrong, Laura M.; McCarthy, Mark I.; Dupuis, Josée; Kaakinen, Marika; Kleber, Marcus E.; Jameson, Karen; Arden, Nigel; Raitakari, Olli; Viikari, Jorma; Lohman, Kurt K.; Ferrucci, Luigi; Melhus, Håkan; Ingelsson, Erik; Byberg, Liisa; Lind, Lars; Lorentzon, Mattias; Salomaa, Veikko; Campbell, Harry; Dunlop, Malcolm; Mitchell, Braxton D.; Herzig, Karl-Heinz; Pouta, Anneli; Hartikainen, Anna-Liisa; Streeten, Elizabeth A.; Theodoratou, Evropi; Jula, Antti; Wareham, Nicholas J.; Ohlsson, Claes; Frayling, Timothy M.; Kritchevsky, Stephen B.; Spector, Timothy D.; Richards, J. Brent; Lehtimäki, Terho; Ouwehand, Willem H.; Kraft, Peter; Cooper, Cyrus; März, Winfried; Power, Chris; Loos, Ruth J. F.; Wang, Thomas Jue-Fuu; Järvelin, Marjo-Riitta; Whittaker, John C.; Hingorani, Aroon D.; Hyppönen, Elina; Genetic Investigation of Anthropometric Traits (GIANT) consortium (Public Library of Science, 2013)
      Background: Obesity is associated with vitamin D deficiency, and both are areas of active public health concern. We explored the causality and direction of the relationship between body mass index (BMI) and 25-hydroxyvitamin ...
    • 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 ...
    • Comparative Genomic Characterization of Francisella tularensis Strains Belonging to Low and High Virulence Subspecies 

      Champion, Mia D.; Zeng, Qiandong; Nix, Eli B.; Nano, Francis E.; Keim, Paul; Kodira, Chinnappa D.; Koehrsen, Michael; Pearson, Matthew; Howarth, Clint; Larson, Lisa; White, Jared; Alvarado, Lucia; Forsman, Mats; Bearden, Scott W.; Sjöstedt, Anders; Titball, Richard; Michell, Stephen L.; Birren, Bruce; Borowsky, Mark L; Young, Sarah U.; Engels, Reinhard; Galagan, James E (Public Library of Science, 2009)
      Tularemia is a geographically widespread, severely debilitating, and occasionally lethal disease in humans. It is caused by infection by a gram-negative bacterium, Francisella tularensis. In order to better understand its ...
    • Effects of cis and trans Genetic Ancestry on Gene Expression in African Americans 

      Price, Alkes; Patterson, Nick; Hancks, Dustin C.; Myers, Simon; Reich, David Emil; Cheung, Vivian G.; Spielman, Richard S. (Public Library of Science, 2008)
      Variation in gene expression is a fundamental aspect of human phenotypic variation. Several recent studies have analyzed gene expression levels in populations of different continental ancestry and reported population ...
    • Efficient Exact Maximum a Posteriori Computation for Bayesian SNP Genotyping in Polyploids 

      Serang, Oliver R; Mollinari, Marcelo; Garcia, Antonio Augusto Franco (Public Library of Science, 2012)
      The problem of genotyping polyploids is extremely important for the creation of genetic maps and assembly of complex plant genomes. Despite its significance, polyploid genotyping still remains largely unsolved and suffers ...
    • Genes to Diseases (G2D) Computational Method to Identify Asthma Candidate Genes 

      Tremblay, Karine; Lemire, Mathieu; Potvin, Camille; Tremblay, Alexandre; Hudson, Thomas J.; Perez-Iratxeta, Carolina; Andrade-Navarro, Miguel A.; Laprise, Catherine; Hunninghake, Gary Matthew; Raby, Benjamin Alexander (Public Library of Science, 2008)
      Asthma is a complex trait for which different strategies have been used to identify its environmental and genetic predisposing factors. Here, we describe a novel methodological approach to select candidate genes for asthma ...
    • Genetic Determinants for Body Iron Store and Type 2 Diabetes Risk in US Men and Women 

      He, Meian; Workalemahu, Tsegaselassie; Manson, JoAnn Elisabeth; Hu, Frank B.; Qi, Lu (Public Library of Science, 2012)
      Background: High body iron store has been associated with an increased risk of type 2 diabetes (T2D); it remains unknown whether the genetic variants related to body iron status affect T2D risk. We aimed at comprehensively ...
    • Genetic Diversity among Enterococcus faecalis 

      McBride, Shonna M.; Fischetti, Vincent A.; LeBlanc, Donald J.; Moellering, Robert Charles; Gilmore, Michael S. (Public Library of Science, 2007)
      Enterococcus faecalis, a ubiquitous member of mammalian gastrointestinal flora, is a leading cause of nosocomial infections and a growing public health concern. The enterococci responsible for these infections are often ...
    • Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae 

      Lowe, Jennifer K.; Maller, Julian B.; Pe'er, Itsik; Neale, Benjamin M.; Salit, Jacqueline; Kenny, Eimear E.; Shea, Jessica L.; Burkhardt, Ralph; Ji, Weizhen; Noel, Martha; Foo, Jia Nee; Blundell, Maude L.; Skilling, Vita; Garcia, Laura; Sullivan, Marcia L.; Lee, Heather E.; Labek, Anna; Ferdowsian, Hope; Auerbach, Steven B.; Lifton, Richard P.; Breslow, Jan L.; Stoffel, Markus; Smith, J. Gustav; Newton-Cheh, Christopher Holmes; Daly, Mark Joseph; Altshuler, David Matthew; Friedman, Jeffrey M. (Public Library of Science, 2009)
      It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian and complex disease. A strong ...
    • Highly Sensitive and Specific Detection of Rare Variants in Mixed Viral Populations from Massively Parallel Sequence Data 

      Macalalad, Alexander R.; Zody, Michael; Charlebois, Patrick; Lennon, Niall J.; Newman, Ruchi M.; Malboeuf, Christine M.; Ryan, Elizabeth Marie; Boutwell, Christian Lane; Power, Karen A.; Brackney, Doug E.; Pesko, Kendra N.; Levin, Joshua Zvi; Ebel, Gregory D.; Allen, Todd; Birren, Bruce W.; Henn, Matthew R. (Public Library of Science, 2012)
      Viruses diversify over time within hosts, often undercutting the effectiveness of host defenses and therapeutic interventions. To design successful vaccines and therapeutics, it is critical to better understand viral ...
    • Human Population Differentiation is Strongly Correlated With Local Recombination Rate 

      Keinan, Alon; Reich, David Emil (Public Library of Science, 2010)
      Allele frequency differences across populations can provide valuable information both for studying population structure and for identifying loci that have been targets of natural selection. Here, we examine the relationship ...
    • Hypermutable Non-Synonymous Sites are Under Stronger Negative Selection 

      Schmidt, Steffen; Gerasimova, Anna; Kondrashov, Fyodor A.; Adzuhbei, Ivan A.; Kondrashov, Alexey S.; Sunyaev, Shamil R. (Public Library of Science, 2008)
      Mutation rate varies greatly between nucleotide sites of the human genome and depends both on the global genomic location and the local sequence context of a site. In particular, CpG context elevates the mutation rate by ...
    • The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland 

      Helgason, Agnar; Palsson, Snaebjorn; Stefansson, Hreinn; St. Clair, David; Andreassen, Ole A.; Kong, Augustine; Stefansson, Kari; Price, Alkes; Reich, David Emil (Public Library of Science, 2009)
      The Icelandic population has been sampled in many disease association studies, providing a strong motivation to understand the structure of this population and its ramifications for disease gene mapping. Previous work using ...
    • 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 ...