Browsing SPH Scholarly Articles by Title

Now showing items 2561-2580 of 6362

    • Genetic research in autism spectrum disorders 

      Robinson, Elise B.; Neale, Benjamin M.; Hyman, Steven E. (Lippincott Williams and Wilkins, 2015)
      Purpose of review The recent explosion of genetic findings in autism spectrum disorder (ASD) research has improved knowledge of the disorder's underlying biology and etiologic architecture. This review introduces concepts ...

    • Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population 

      Robinson, Elise B.; St. Pourcain, Beate; Anttila, Verneri; Kosmicki, Jack A.; Bulik-Sullivan, Brendan; Grove, Jakob; Maller, Julian; Samocha, Kaitlin E.; Sanders, Stephan J.; Ripke, Stephan; Martin, Joanna; Hollegaard, Mads V.; Werge, Thomas; Hougaard, David M.; Neale, Benjamin M.; Evans, David M.; Skuse, David; Mortensen, Preben Bo; Børglum, Anders D.; Ronald, Angelica; Smith, George Davey; Daly, Mark J. (2016)
      Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of that risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several ...

    • A genetic risk score composed of rheumatoid arthritis risk alleles, HLA-DRB1 haplotypes, and response to TNFi therapy – results from a Swedish cohort study 

      Jiang, Xia; Askling, Johan; Saevarsdottir, Saedis; Padyukov, Leonid; Alfredsson, Lars; Viatte, Sebastien; Frisell, Thomas (BioMed Central, 2016)
      Background: To prevent debilitating and irreversible joint damage, rheumatoid arthritis (RA) is often treated with tumor necrosis factor inhibitor (TNFi), but many patients do not respond to this costly therapy. Few ...

    • Genetic risk variants associated with in situ breast cancer 

      Campa, Daniele; Barrdahl, Myrto; Gaudet, Mia M.; Black, Amanda; Chanock, Stephen J.; Diver, W. Ryan; Gapstur, Susan M.; Haiman, Christopher; Hankinson, Susan; Hazra, Aditi; Henderson, Brian; Hoover, Robert N.; Hunter, David J.; Joshi, Amit D.; Kraft, Peter; Le Marchand, Loic; Lindström, Sara; Willett, Walter; Travis, Ruth C.; Amiano, Pilar; Siddiq, Afshan; Trichopoulos, Dimitrios; Sund, Malin; Tjønneland, Anne; Weiderpass, Elisabete; Peeters, Petra H.; Panico, Salvatore; Dossus, Laure; Ziegler, Regina G.; Canzian, Federico; Kaaks, Rudolf (BioMed Central, 2015)
      Introduction: Breast cancer in situ (BCIS) diagnoses, a precursor lesion for invasive breast cancer, comprise about 20 % of all breast cancers (BC) in countries with screening programs. Family history of BC is considered ...

    • Genetic Surveillance Detects Both Clonal and Epidemic Transmission of Malaria following Enhanced Intervention in Senegal 

      Daniels, Rachel Fath; Chang, Hsiao-Han; Séne, Papa Diogoye; Park, Danny C.; Neafsey, Daniel Edward; Schaffner, Stephen; Hamilton, Elizabeth Julia; Lukens, Amanda Kathleen; Van Tyne, Daria Natalie; Mboup, Souleymane; Sabeti, Pardis Christine; Ndiaye, Daouda; Wirth, Dyann Fergus; Hartl, Daniel L.; Cooke, Sarah Volkman (Public Library of Science, 2013)
      Using parasite genotyping tools, we screened patients with mild uncomplicated malaria seeking treatment at a clinic in Thiès, Senegal, from 2006 to 2011. We identified a growing frequency of infections caused by genetically ...

    • Genetic susceptibility to methylmercury developmental neurotoxicity matters 

      Julvez, Jordi; Grandjean, Philippe (Frontiers Media SA, 2013)

    • Genetic Susceptible Locus in NOTCH2 Interacts with Arsenic in Drinking Water on Risk of Type 2 Diabetes 

      Pan, Wen-Chi; Kile, Molly L.; Seow, Wei Jie; Lin, Xihong; Quamruzzaman, Quazi; Rahman, Mahmuder; Mahiuddin, Golam; Mostofa, Golam; Lu, Quan; Christiani, David C. (Public Library of Science, 2013)
      Background: Chronic exposure to arsenic in drinking water is associated with increased risk of type 2 diabetes mellitus (T2DM) but the underlying molecular mechanism remains unclear. Objectives: This study evaluated the ...

    • Genetic Variability in IGF-1 and IGFBP-3 and Body Size in Early Life 

      Poole, Elizabeth M.; Tworoger, Shelley Slate; Hankinson, Susan Elizabeth; Baer, Heather Joanne (BioMed Central, 2012)
      Background: Early life body size and circulating levels of IGF-1 and IGFBP-3 have been linked to increased risks of breast and other cancers, but it is unclear whether these exposures act through a common mechanism. Previous ...

    • Genetic Variability of the mTOR Pathway and Prostate Cancer Risk in the European Prospective Investigation on Cancer (EPIC) 

      Campa, Daniele; Stein, Angelika; Dostal, Lucie; Boeing, Heiner; Pischon, Tobias; Roswall, Nina; Overvad, Kim; Barricarte, Aurelio; Khaw, Kay-Tee; Wareham, Nicholas; Travis, Ruth C.; Allen, Naomi E.; Trichopoulou, Antonia; Palli, Domenico; Sieri, Sabina; Tumino, Rosario; Sacerdote, Carlotta; van Kranen, Henk; Bueno-de-Mesquita, H. Bas; Johansson, Mattias; Romieu, Isabelle; Jenab, Mazda; Siddiq, Afshan; Riboli, Elio; Canzian, Federico; Kaaks, Rudolf; Agoulnik, Irina; Hüsing, Anna; Tjønnelan, Anne; Østergaard, Jane Nautrup; Rodríguez, Laudina; Sala, Núria; Sánchez, Maria-José; Larrañaga, Nerea; Huerta, José-Maria; Hallmans, Göran; Cox, David G.; Lagiou, Pagona; Trichopoulos, Dimitrios (Public Library of Science, 2011)
      The mTOR (mammalian target of rapamycin) signal transduction pathway integrates various signals, regulating ribosome biogenesis and protein synthesis as a function of available energy and amino acids, and assuring an ...

    • Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study 

      Fesinmeyer, Megan D; Meigs, James B; North, Kari E; Schumacher, Fredrick R; Bůžková, Petra; Franceschini, Nora; Haessler, Jeffrey; Goodloe, Robert; Spencer, Kylee L; Voruganti, Venkata Saroja; Howard, Barbara V; Jackson, Rebecca; Kolonel, Laurence N; Liu, Simin; Manson, JoAnn E; Monroe, Kristine R; Mukamal, Kenneth; Dilks, Holli H; Pendergrass, Sarah A; Nato, Andrew; Wan, Peggy; Wilkens, Lynne R; Marchand, Loic Le; Ambite, José Luis; Buyske, Steven; Florez, Jose C; Crawford, Dana C; Hindorff, Lucia A; Haiman, Christopher A; Peters, Ulrike; Pankow, James S (BioMed Central, 2013)
      Background: Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conducted ...

    • Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses 

      Okbay, Aysu; Baselmans, Bart M.L.; De Neve, Jan-Emmanuel; Turley, Patrick; Nivard, Michel G.; Fontana, Mark Alan; Meddens, S. Fleur W.; Linnér, Richard Karlsson; Rietveld, Cornelius A.; Derringer, Jaime; Gratten, Jacob; Lee, James J.; Liu, Jimmy Z.; de Vlaming, Ronald; Ahluwalia, Tarunveer S.; Buchwald, Jadwiga; Cavadino, Alana; Frazier-Wood, Alexis C.; Furlotte, Nicholas A.; Garfield, Victoria; Geisel, Marie Henrike; Gonzalez, Juan R.; Haitjema, Saskia; Karlsson, Robert; van der Laan, Sander W.; Ladwig, Karl-Heinz; Lahti, Jari; van der Lee, Sven J.; Lind, Penelope A.; Liu, Tian; Matteson, Lindsay; Mihailov, Evelin; Miller, Michael B.; Minica, Camelia C.; Nolte, Ilja M.; Mook-Kanamori, Dennis; van der Most, Peter J.; Oldmeadow, Christopher; Qian, Yong; Raitakari, Olli; Rawal, Rajesh; Realo, Anu; Rueedi, Rico; Schmidt, Börge; Smith, Albert V.; Stergiakouli, Evie; Tanaka, Toshiko; Taylor, Kent; Wedenoja, Juho; Wellmann, Juergen; Westra, Harm-Jan; Willems, Sara M.; Zhao, Wei; Amin, Najaf; Bakshi, Andrew; Boyle, Patricia A.; Cherney, Samantha; Cox, Simon R.; Davies, Gail; Davis, Oliver S.P.; Ding, Jun; Direk, Nese; Eibich, Peter; Emeny, Rebecca T.; Fatemifar, Ghazaleh; Faul, Jessica D.; Ferrucci, Luigi; Forstner, Andreas; Gieger, Christian; Gupta, Richa; Harris, Tamara B.; Harris, Juliette M.; Holliday, Elizabeth G.; Hottenga, Jouke-Jan; De Jager, Philip L.; Kaakinen, Marika A.; Kajantie, Eero; Karhunen, Ville; Kolcic, Ivana; Kumari, Meena; Launer, Lenore J.; Franke, Lude; Li-Gao, Ruifang; Koini, Marisa; Loukola, Anu; Marques-Vidal, Pedro; Montgomery, Grant W.; Mosing, Miriam A.; Paternoster, Lavinia; Pattie, Alison; Petrovic, Katja E.; Pulkki-Råback, Laura; Quaye, Lydia; Räikkönen, Katri; Rudan, Igor; Scott, Rodney J.; Smith, Jennifer A.; Sutin, Angelina R.; Trzaskowski, Maciej; Vinkhuyzen, Anna E.; Yu, Lei; Zabaneh, Delilah; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Boomsma, Dorret I.; Snieder, Harold; Chang, Shun-Chiao; Cucca, Francesco; Deary, Ian J.; van Duijn, Cornelia M.; Eriksson, Johan G.; Bültmann, Ute; de Geus, Eco J.C.; Groenen, Patrick J.F.; Gudnason, Vilmundur; Hansen, Torben; Hartman, Catharine A.; Haworth, Claire M.A.; Hayward, Caroline; Heath, Andrew C.; Hinds, David A.; Hyppönen, Elina; Iacono, William G.; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L.R.; Keltikangas-Järvinen, Liisa; Kraft, Peter; Kubzansky, Laura D.; Lehtimäki, Terho; Magnusson, Patrik K.E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Mills, Melinda; de Mutsert, Renée; Oldehinkel, Albertine J.; Pasterkamp, Gerard; Pedersen, Nancy L.; Plomin, Robert; Polasek, Ozren; Power, Christine; Rich, Stephen S.; Rosendaal, Frits R.; den Ruijter, Hester M.; Schlessinger, David; Schmidt, Helena; Svento, Rauli; Schmidt, Reinhold; Alizadeh, Behrooz Z.; Sørensen, Thorkild I.A.; Spector, Tim D.; Steptoe, Andrew; Terracciano, Antonio; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Uitterlinden, André G.; Vollenweider, Peter; Wagner, Gert G.; Weir, David R.; Yang, Jian; Conley, Dalton C.; Smith, George Davey; Hofman, Albert; Johannesson, Magnus; Laibson, David I.; Medland, Sarah E.; Meyer, Michelle N.; Pickrell, Joseph K.; Esko, Tõnu; Krueger, Robert F.; Beauchamp, Jonathan P.; Koellinger, Philipp D.; Benjamin, Daniel J.; Bartels, Meike; Cesarini, David (2016)
      We conducted genome-wide association studies of three phenotypes: subjective well-being (N = 298,420), depressive symptoms (N = 161,460), and neuroticism (N = 170,910). We identified three variants associated with subjective ...

    • Genetic Variants at Newly Identified Lipid Loci Are Associated with Coronary Heart Disease in a Chinese Han Population 

      Zhou, Li; Ding, Hu; Zhang, Xiaomin; He, Meian; Huang, Suli; Xu, Yujun; Shi, Ying; Cui, Guanglin; Cheng, Longxian; Wang, Qing K.; Hu, Frank B.; Wang, Daowen; Wu, Tangchun; Qin, Gangjian (Public Library of Science, 2011)
      Background: Recent genome-wide association studies (GWAS) have mapped several novel loci influencing blood lipid levels in Caucasians. We sought to explore whether the genetic variants at newly identified lipid-associated ...

    • Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes 

      Qi, Lu; Cornelis, Marilyn C.; Kraft, Peter; Jensen, Majken; Dam, Rob van; Sun, Qi; Girman, Cynthia J.; Laurie, Cathy C.; Mirel, Daniel B.; Hunter, David J.; Rimm, Eric Bruce::0ab2926c8242f35e5a982e3cf59f4987::600; Hu, Frank B. (Oxford University Press, 2010)
      Blood soluble E-selectin (sE-selectin) levels have been related to various conditions such as type 2 diabetes. We performed a genome-wide association study among women of European ancestry from the Nurses' Health Study, ...

    • Genetic variants in CETP increase risk of intracerebral hemorrhage 

      Anderson, Christopher D.; Falcone, Guido J.; Phuah, Chia‐Ling; Radmanesh, Farid; Brouwers, H. Bart; Battey, Thomas W. K.; Biffi, Alessandro; Peloso, Gina M.; Liu, Dajiang J.; Ayres, Alison M.; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Selim, Magdy; Meschia, James F.; Brown, Devin L.; Worrall, Bradford B.; Silliman, Scott L.; Tirschwell, David L.; Flaherty, Matthew L.; Kraft, Peter; Jagiella, Jeremiasz M.; Schmidt, Helena; Hansen, Björn M.; Jimenez‐Conde, Jordi; Giralt‐Steinhauer, Eva; Elosua, Roberto; Cuadrado‐Godia, Elisa; Soriano, Carolina; van Nieuwenhuizen, Koen M.; Klijn, Catharina J. M.; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al‐Shahi; Sudlow, Catherine L.; Deary, Ian J.; Morotti, Andrea; Pezzini, Alessandro; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Enzinger, Christian; Norrving, Bo; Montaner, Joan; Fernandez‐Cadenas, Israel; Delgado, Pilar; Roquer, Jaume; Lindgren, Arne; Slowik, Agnieszka; Schmidt, Reinhold; Kidwell, Chelsea S.; Kittner, Steven J.; Waddy, Salina P.; Langefeld, Carl D.; Abecasis, Goncalo; Willer, Cristen J.; Kathiresan, Sekar; Woo, Daniel; Rosand, Jonathan (John Wiley and Sons Inc., 2016)
      Objective: In observational epidemiologic studies, higher plasma high‐density lipoprotein cholesterol (HDL‐C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease ...

    • Genetic Variants in FGFR2 and FGFR4 Genes and Skin Cancer Risk in the Nurses' Health Study 

      Nan, Hongmei; Qureshi, Abrar A; Hunter, David J.; Han, Jiali (BioMed Central, 2009)
      Background: The human fibroblast growth factor (FGF) and its receptor (FGFR) play an important role in tumorigenesis. Deregulation of the FGFR2 gene has been identified in a number of cancer sites. Overexpression of the ...

    • Genetic Variants in the UGT1A6 Enzyme, Aspirin Use, and the Risk of Colorectal Adenoma 

      Chan, A. T.; Tranah, G. J.; Giovannucci, E. L.; Hunter, D. J.; Fuchs, C. S. (Oxford University Press, 2005)
      Genetic variation in the uridine diphosphate glucuronosyltransferase 1A6 (UGT1A6) enzyme is associated with impaired metabolism of aspirin. To determine whether polymorphisms in the UGT1A6 enzyme modulate the protective ...

    • Genetic variants of adiponectin and risk of colorectal cancer 

      Song, Mingyang; Gong, Jian; Giovannucci, Edward; Berndt, Sonja; Brenner, Hermann; Chang-Claude, Jenny; Curtis, Keith; Harrison, Tabitha; Hoffmeister, Michael; Hsu, Li; Jiao, Shuo; Le Marchand, Loic; Potter, John; Schoen, Robert; Seminara, Daniela; Slattery, Martha; White, Emily; Wu, Kana; Ogino, Shuji; Fuchs, Charles; Hunter, David; Tworoger, Shelley; Hu, Frank; Rimm, Eric Bruce::0ab2926c8242f35e5a982e3cf59f4987::600; Jensen, Majken; Peters, Ulrike; Chan, Andrew (Wiley, 2015)
      Circulating adiponectin has been associated with lower risk of colorectal cancer (CRC). Genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) associated with adiponectin levels. ...

    • Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets 

      Rahmioglu, Nilufer; Nyholt, Dale R.; Morris, Andrew P.; Missmer, Stacey A.; Montgomery, Grant W.; Zondervan, Krina T. (Oxford University Press, 2014)
      BACKGROUND Endometriosis is a heritable common gynaecological condition influenced by multiple genetic and environmental factors. Genome-wide association studies (GWASs) have proved successful in identifying common genetic ...

    • Genetic Variation across C-Reactive Protein and Risk of Prostate Cancer 

      Markt, Sarah; Rider, Jennifer; Penney, Kathryn; Schumacher, Fredrick; Epstein, Mara; Fall, Katja; Sesso, Howard; Stampfer, Meir; Mucci, Lorelei (Wiley, 2014)
      BACKGROUND. Inflammation has been hypothesized to play an important etiological role in the initiation or progression of prostate cancer. Circulating levels of the systemic inflammation marker C-reactive protein (CRP) have ...

    • Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study 

      Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van’t Veer, Laura J; Atsma, Femke; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Renner, Stefan P; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Guénel, Pascal; Truong, Therese; Cordina, Emilie; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Milne, Roger; Zamora, M Pilar; Arias Perez, Jose Ignacio; Benitez, Javier; Bernstein, Leslie; Anton-Culver, Hoda; Ziogas, Argyrios; Clarke Dur, Christina; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Dieffenbach, Aida Karina; Meindl, Alfons; Heil, Joerg; Bartram, Claus R; Schmutzler, Rita K; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Dörk, Thilo; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Beesley, Jonathan; Wu, Anna H; Van den Berg, David; Tseng, Chiu-Chen; Lambrechts, Diether; Smeets, Dominiek; Neven, Patrick; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Pensotti, Valeria; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Haiman, Chris; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Soucy, Penny; Teo, Soo; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K; Kristensen, Vessela N; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Devillee, Peter; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Schoof, Nils; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier A; Tilanus-Linthorst, Madeleine; Liu, Jianjun; Cox, Angie; Brock, Ian W; Reed, Malcolm WR; Cross, Simon S; Blot, William; Signorello, Lisa B; Pharoah, Paul DP; Dunning, Alison M; Shah, Mitul; Kang, Daehee; Noh, Dong-Young; Park, Sue K; Choi, Ji-Yeob; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans Ulrich; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Slager, Susan; Toland, Amanda E; Vachon, Celine; Yannoukakos, Drakoulis; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; González-Neira, Anna; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Jean; Easton, Douglas F; García-Closas, Montserrat; Dowsett, Mitch; Ashworth, Alan; Swerdlow, Anthony J; Peto, Julian; dos Santos Silva, Isabel; Fletcher, Olivia (BioMed Central, 2014)
      Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ...