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https://www.readbyqxmd.com/read/28521790/unintentional-drowning-role-of-medicinal-drugs-and-alcohol
#1
Tuulia Pajunen, Erkki Vuori, Frank F Vincenzi, Pirjo Lillsunde, Gordon Smith, Philippe Lunetta
BACKGROUND: Alcohol is a well-known risk factor in unintentional drownings. Whereas psychotropic drugs, like alcohol, may cause psychomotor impairment and affect cognition, no detailed studies have focused on their association with drowning. Finland provides extensive post-mortem toxicological data for studies on drowning because of its high medico-legal autopsy rates. METHODS: Drowning cases, 2000 through 2009, for which post-mortem toxicological analysis was performed, came from the database of the Toxicological Laboratory, Department of Forensic Medicine, University of Helsinki, using the ICD-10 nature-of-injury code T75...
May 19, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#2
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28428745/decreased-levels-of-foldase-and-chaperone-proteins-are-associated-with-an-early-onset-amyotrophic-lateral-sclerosis
#3
Melania Filareti, Silvia Luotti, Laura Pasetto, Mauro Pignataro, Katia Paolella, Paolo Messina, Elisabetta Pupillo, Massimiliano Filosto, Christian Lunetta, Jessica Mandrioli, Giuseppe Fuda, Andrea Calvo, Adriano Chiò, Massimo Corbo, Caterina Bendotti, Ettore Beghi, Valentina Bonetto
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by a progressive upper and lower motor neuron degeneration. One of the peculiar clinical characteristics of ALS is the wide distribution in age of onset, which is probably caused by different combinations of intrinsic and exogenous factors. We investigated whether these modifying factors are converging into common pathogenic pathways leading either to an early or a late disease onset. This would imply the identification of phenotypic biomarkers, that can distinguish the two populations of ALS patients, and of relevant pathways to consider in a therapeutic intervention...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28424184/demographic-lifestyle-and-genetic-determinants-of-circulating-concentrations-of-25-hydroxyvitamin-d-and-vitamin-d-binding-protein-in-african-american-and-european-american-women
#4
Song Yao, Chi-Chen Hong, Elisa V Bandera, Qianqian Zhu, Song Liu, Ting-Yuan David Cheng, Gary Zirpoli, Stephen A Haddad, Kathryn L Lunetta, Edward A Ruiz-Narvaez, Susan E McCann, Melissa A Troester, Lynn Rosenberg, Julie R Palmer, Andrew F Olshan, Christine B Ambrosone
Background: Vitamin D may have anticancer activities. The high prevalence of vitamin D deficiency in African Americans (AAs) may be a contributing factor to the cancer health disparities between AAs and European Americans (EAs).Objectives: We compared concentrations of 25(OH)D and vitamin D-binding protein (VDBP) in AA and EA women and investigated determinants of the vitamin D-biomarker concentrations in both populations.Design: We used data and biospecimens from 909 AA and 847 EA healthy control subjects from the Carolina Breast Cancer Study (CBCS) and the Women's Circle of Health Study (WCHS) in the African American Breast Cancer Epidemiology and Risk Consortium...
April 19, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28420652/alcohol-intake-and-breast-cancer-risk-in-african-american-women-from-the-amber-consortium
#5
Lindsay A Williams, Andrew F Olshan, Chi-Chen Hong, Elisa V Bandera, Lynn Rosenberg, Ting-Yuan David Cheng, Kathryn L Lunetta, Susan E McCann, Charles Poole, Laurence N Kolonel, Julie R Palmer, Christine B Ambrosone, Melissa A Troester
Background: Alcohol is a recognized risk factor for invasive breast cancer, but few studies involve African American women.Methods: The current analysis included 22,338 women (5,108 cases of invasive breast cancer) from the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium. The association between number of alcoholic drinks per week (dpw) and breast cancer was estimated using logistic regression, adjusting for potential confounders, and stratifying by breast cancer subtype.Results: Approximately 35% of controls were current drinkers at interview...
April 18, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28384752/serum-c-reactive-protein-as-a-prognostic-biomarker-in-amyotrophic-lateral-sclerosis
#6
Christian Lunetta, Andrea Lizio, Eleonora Maestri, Valeria Ada Sansone, Gabriele Mora, Robert G Miller, Stanley H Appel, Adriano Chiò
Importance: Various factors have been proposed as possible candidates associated with the prognosis of amyotrophic lateral sclerosis (ALS); however, there is still no consensus on which biomarkers are reliable prognostic factors. C-reactive protein (CRP) is a biomarker of the inflammatory response that shows significant prognostic value for several diseases. Objective: To examine the prognostic significance of CRP in ALS. Design, Setting, and Participants: Patients' serum CRP levels were evaluated from January 1, 2009, to June 30, 2015, in a large cohort of patients with ALS observed by an Italian tertiary multidisciplinary center...
April 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28377418/characterizing-genetic-susceptibility-to-breast-cancer-in-women-of-african-ancestry
#7
Ye Feng, Suhn K Rhie, Dezheng Huo, Edward A Ruiz-Narvaez, Stephen A Haddad, Christine B Ambrosone, Esther M John, Leslie Bernstein, Wei Zheng, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Elisa V Bandera, Sue Ann Ingles, Michael F Press, Sandra L Deming, Jorge L Rodriguez-Gil, Yonglan Zheng, Song Yao, Yoo Jeong Han, Temidayo O Ogundiran, Timothy R Rebbeck, Clement Adebamowo, Oladosu Ojengbede, Adeyinka G Falusi, Anselm Hennis, Barbara Nemesure, Stefan Ambs, William Blot, Qiuyin Cai, Lisa Signorello, Katherine L Nathanson, Kathryn L Lunetta, Lara E Sucheston-Campbell, Jeannette T Bensen, Stephen J Chanock, Loic Le Marchand, Andrew F Olshan, Laurence N Kolonel, David V Conti, Gerhard Coetzee, Daniel O Stram, Olufunmilayo I Olopade, Julie R Palmer, Christopher A Haiman
BACKGROUND: Genome-wide association studies have identified ~100 common genetic variants associated with breast cancer risk, the majority of which were discovered in women of European ancestry. Due to different patterns of linkage disequilibrium, many of these genetic markers may not represent signals in populations of African ancestry. METHODS: We tested 74 breast cancer risk variants and conducted fine-mapping of these susceptibility regions in 6,522 breast cancer cases and 7,643 controls of African ancestry from three genetic consortia (AABC, AMBER and ROOT)...
April 4, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28337565/blood-trace-metals-in-a-sporadic-amyotrophic-lateral-sclerosis-geographical-cluster
#8
Stefano De Benedetti, Giorgio Lucchini, Cristian Del Bò, Valeria Deon, Alessandro Marocchi, Silvana Penco, Christian Lunetta, Elisabetta Gianazza, Francesco Bonomi, Stefania Iametti
Amyotrophic lateral sclerosis (ALS) is a fatal disorder with unknown etiology, in which genetic and environmental factors interplay to determine the onset and the course of the disease. Exposure to toxic metals has been proposed to be involved in the etiology of the disease either through a direct damage or by promoting oxidative stress. In this study we evaluated the concentration of a panel of metals in serum and whole blood of a small group of sporadic patients, all living in a defined geographical area, for which acid mine drainage has been reported...
June 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/28253288/a-novel-tcf7l2-type-2-diabetes-snp-identified-from-fine-mapping-in-african-american-women
#9
Stephen A Haddad, Julie R Palmer, Kathryn L Lunetta, Maggie C Y Ng, Edward A Ruiz-Narváez
SNP rs7903146 in the Wnt pathway's TCF7L2 gene is the variant most significantly associated with type 2 diabetes to date, with associations observed across diverse populations. We sought to determine whether variants in other Wnt pathway genes are also associated with this disease. We evaluated 69 genes involved in the Wnt pathway, including TCF7L2, for associations with type 2 diabetes in 2632 African American cases and 2596 controls from the Black Women's Health Study. Tag SNPs for each gene region were genotyped on a custom Affymetrix Axiom Array, and imputation was performed to 1000 Genomes Phase 3 data...
2017: PloS One
https://www.readbyqxmd.com/read/28229508/meditation-training-for-people-with-amyotrophic-lateral-sclerosis-a-randomized-clinical-trial
#10
F Pagnini, A Marconi, A Tagliaferri, G M Manzoni, R Gatto, V Fabiani, G Gragnano, G Rossi, E Volpato, P Banfi, A Palmieri, F Graziano, G Castelnuovo, M Corbo, E Molinari, N Riva, V Sansone, C Lunetta
BACKGROUND AND PURPOSE: Studies investigating psychological interventions for the promotion of well-being in people with amyotrophic lateral sclerosis (ALS) are lacking. The purpose of the current study was to examine the use of an ALS-specific mindfulness-based intervention for improving quality of life in this population. METHODS: A randomized, open-label and controlled clinical trial was conducted on the efficacy of an ALS-specific meditation programme in promoting quality of life...
April 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28183528/transethnic-genome-wide-scan-identifies-novel-alzheimer-s-disease-loci
#11
Gyungah R Jun, Jaeyoon Chung, Jesse Mez, Robert Barber, Gary W Beecham, David A Bennett, Joseph D Buxbaum, Goldie S Byrd, Minerva M Carrasquillo, Paul K Crane, Carlos Cruchaga, Philip De Jager, Nilufer Ertekin-Taner, Denis Evans, M Danielle Fallin, Tatiana M Foroud, Robert P Friedland, Alison M Goate, Neill R Graff-Radford, Hugh Hendrie, Kathleen S Hall, Kara L Hamilton-Nelson, Rivka Inzelberg, M Ilyas Kamboh, John S K Kauwe, Walter A Kukull, Brian W Kunkle, Ryozo Kuwano, Eric B Larson, Mark W Logue, Jennifer J Manly, Eden R Martin, Thomas J Montine, Shubhabrata Mukherjee, Adam Naj, Eric M Reiman, Christiane Reitz, Richard Sherva, Peter H St George-Hyslop, Timothy Thornton, Steven G Younkin, Badri N Vardarajan, Li-San Wang, Jens R Wendlund, Ashley R Winslow, Jonathan Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard Schellenberg, Kathryn L Lunetta, Lindsay A Farrer
INTRODUCTION: Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. METHODS: We conducted a transethnic genome-wide association study (GWAS) for late-onset AD in Stage 1 sample including whites of European Ancestry, African-Americans, Japanese, and Israeli-Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset...
February 7, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28171663/genome-wide-association-studies-in-women-of-african-ancestry-identified-3q26-21-as-a-novel-susceptibility-locus-for-oestrogen-receptor-negative-breast-cancer
#12
Dezheng Huo, Ye Feng, Stephen Haddad, Yonglan Zheng, Song Yao, Yoo-Jeong Han, Temidayo O Ogundiran, Clement Adebamowo, Oladosu Ojengbede, Adeyinka G Falusi, Wei Zheng, William Blot, Qiuyin Cai, Lisa Signorello, Esther M John, Leslie Bernstein, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Elisa V Bandera, Sue A Ingles, Michael F Press, Sandra L Deming, Jorge L Rodriguez-Gil, Katherine L Nathanson, Susan M Domchek, Timothy R Rebbeck, Edward A Ruiz-Narváez, Lara E Sucheston-Campbell, Jeannette T Bensen, Michael S Simon, Anselm Hennis, Barbara Nemesure, M Cristina Leske, Stefan Ambs, Lin S Chen, Frank Qian, Eric R Gamazon, Kathryn L Lunetta, Nancy J Cox, Stephen J Chanock, Laurence N Kolonel, Andrew F Olshan, Christine B Ambrosone, Olufunmilayo I Olopade, Julie R Palmer, Christopher A Haiman
No abstract text is available yet for this article.
November 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28166718/evaluation-of-logistic-regression-models-and-effect-of-covariates-for-case-control-study-in-rna-seq-analysis
#13
Seung Hoan Choi, Adam T Labadorf, Richard H Myers, Kathryn L Lunetta, Josée Dupuis, Anita L DeStefano
BACKGROUND: Next generation sequencing provides a count of RNA molecules in the form of short reads, yielding discrete, often highly non-normally distributed gene expression measurements. Although Negative Binomial (NB) regression has been generally accepted in the analysis of RNA sequencing (RNA-Seq) data, its appropriateness has not been exhaustively evaluated. We explore logistic regression as an alternative method for RNA-Seq studies designed to compare cases and controls, where disease status is modeled as a function of RNA-Seq reads using simulated and Huntington disease data...
February 6, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28077804/the-complex-genetics-of-gait-speed-genome-wide-meta-analysis-approach
#14
Dan Ben-Avraham, David Karasik, Joe Verghese, Kathryn L Lunetta, Jennifer A Smith, John D Eicher, Rotem Vered, Joris Deelen, Alice M Arnold, Aron S Buchman, Toshiko Tanaka, Jessica D Faul, Maria Nethander, Myriam Fornage, Hieab H Adams, Amy M Matteini, Michele L Callisaya, Albert V Smith, Lei Yu, Philip L De Jager, Denis A Evans, Vilmundur Gudnason, Albert Hofman, Alison Pattie, Janie Corley, Lenore J Launer, Davis S Knopman, Neeta Parimi, Stephen T Turner, Stefania Bandinelli, Marian Beekman, Danielle Gutman, Lital Sharvit, Simon P Mooijaart, David C Liewald, Jeanine J Houwing-Duistermaat, Claes Ohlsson, Matthijs Moed, Vincent J Verlinden, Dan Mellström, Jos N van der Geest, Magnus Karlsson, Dena Hernandez, Rebekah McWhirter, Yongmei Liu, Russell Thomson, Gregory J Tranah, Andre G Uitterlinden, David R Weir, Wei Zhao, John M Starr, Andrew D Johnson, M Arfan Ikram, David A Bennett, Steven R Cummings, Ian J Deary, Tamara B Harris, Sharon L R Kardia, Thomas H Mosley, Velandai K Srikanth, Beverly G Windham, Ann B Newman, Jeremy D Walston, Gail Davies, Daniel S Evans, Eline P Slagboom, Luigi Ferrucci, Douglas P Kiel, Joanne M Murabito, Gil Atzmon
Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues...
January 10, 2017: Aging
https://www.readbyqxmd.com/read/28067321/methylome-wide-association-study-of-atrial-fibrillation-in-framingham-heart-study
#15
Honghuang Lin, Xiaoyan Yin, Zhijun Xie, Kathryn L Lunetta, Steven A Lubitz, Martin G Larson, Darae Ko, Jared W Magnani, Michael M Mendelson, Chunyu Liu, David D McManus, Daniel Levy, Patrick T Ellinor, Emelia J Benjamin
Atrial fibrillation (AF) is the most common cardiac arrhythmia, but little is known about the molecular mechanisms associated with AF arrhythmogenesis. DNA methylation is an important epigenetic mechanism that regulates gene expression and downstream biological processes. We hypothesize that DNA methylation might play an important role in the susceptibility to develop AF. A total of 2,639 participants from the Offspring Cohort of Framingham Heart Study were enrolled in the current study. These participants included 183 participants with prevalent AF and 220 with incident AF during up to 9 years follow up...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28049566/an-analysis-of-two-genome-wide-association-meta-analyses-identifies-a-new-locus-for-broad-depression-phenotype
#16
Nese Direk, Stephanie Williams, Jennifer A Smith, Stephan Ripke, Tracy Air, Azmeraw T Amare, Najaf Amin, Bernhard T Baune, David A Bennett, Douglas H R Blackwood, Dorret Boomsma, Gerome Breen, Henriette N Buttenschøn, Enda M Byrne, Anders D Børglum, Enrique Castelao, Sven Cichon, Toni-Kim Clarke, Marilyn C Cornelis, Udo Dannlowski, Philip L De Jager, Ayse Demirkan, Enrico Domenici, Cornelia M van Duijn, Erin C Dunn, Johan G Eriksson, Tonu Esko, Jessica D Faul, Luigi Ferrucci, Myriam Fornage, Eco de Geus, Michael Gill, Scott D Gordon, Hans Jörgen Grabe, Gerard van Grootheest, Steven P Hamilton, Catharina A Hartman, Andrew C Heath, Karin Hek, Albert Hofman, Georg Homuth, Carsten Horn, Jouke Jan Hottenga, Sharon L R Kardia, Stefan Kloiber, Karestan Koenen, Zoltán Kutalik, Karl-Heinz Ladwig, Jari Lahti, Douglas F Levinson, Cathryn M Lewis, Glyn Lewis, Qingqin S Li, David J Llewellyn, Susanne Lucae, Kathryn L Lunetta, Donald J MacIntyre, Pamela Madden, Nicholas G Martin, Andrew M McIntosh, Andres Metspalu, Yuri Milaneschi, Grant W Montgomery, Ole Mors, Thomas H Mosley, Joanne M Murabito, Bertram Müller-Myhsok, Markus M Nöthen, Dale R Nyholt, Michael C O'Donovan, Brenda W Penninx, Michele L Pergadia, Roy Perlis, James B Potash, Martin Preisig, Shaun M Purcell, Jorge A Quiroz, Katri Räikkönen, John P Rice, Marcella Rietschel, Margarita Rivera, Thomas G Schulze, Jianxin Shi, Stanley Shyn, Grant C Sinnamon, Johannes H Smit, Jordan W Smoller, Harold Snieder, Toshiko Tanaka, Katherine E Tansey, Alexander Teumer, Rudolf Uher, Daniel Umbricht, Sandra Van der Auwera, Erin B Ware, David R Weir, Myrna M Weissman, Gonneke Willemsen, Jingyun Yang, Wei Zhao, Henning Tiemeier, Patrick F Sullivan
BACKGROUND: The genetics of depression has been explored in genome-wide association studies that focused on either major depressive disorder or depressive symptoms with mostly negative findings. A broad depression phenotype including both phenotypes has not been tested previously using a genome-wide association approach. We aimed to identify genetic polymorphisms significantly associated with a broad phenotype from depressive symptoms to major depressive disorder. METHODS: We analyzed two prior studies of 70,017 participants of European ancestry from general and clinical populations in the discovery stage...
December 8, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27982123/unraveling-gene-expression-profiles-in-peripheral-motor-nerve-from-amyotrophic-lateral-sclerosis-patients-insights-into-pathogenesis
#17
Nilo Riva, Ferdinando Clarelli, Teuta Domi, Federica Cerri, Francesca Gallia, Amelia Trimarco, Paola Brambilla, Christian Lunetta, Alberto Lazzerini, Giuseppe Lauria, Carla Taveggia, Sandro Iannaccone, Eduardo Nobile-Orazio, Giancarlo Comi, Maurizio D'Antonio, Filippo Martinelli-Boneschi, Angelo Quattrini
The aim of the present study is to investigate the molecular pathways underlying amyotrophic lateral sclerosis (ALS) pathogenesis within the peripheral nervous system. We analyzed gene expression changes in human motor nerve diagnostic biopsies obtained from eight ALS patients and seven patients affected by motor neuropathy as controls. An integrated transcriptomics and system biology approach was employed. We identified alterations in the expression of 815 genes, with 529 up-regulated and 286 down-regulated in ALS patients...
December 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27974350/genetic-obesity-and-the-risk-of-atrial-fibrillation-causal-estimates-from-mendelian-randomization
#18
Neal A Chatterjee, Franco Giulianini, Bastiaan Geelhoed, Kathryn L Lunetta, Jeffrey R Misialek, Maartje N Niemeijer, Michiel Rienstra, Lynda M Rose, Albert V Smith, Dan E Arking, Patrick T Ellinor, Jan Heeringa, Honghuang Lin, Steven A Lubitz, Elsayed Z Soliman, Niek Verweij, Alvaro Alonso, Emelia J Benjamin, Vilmundur Gudnason, Bruno H C Stricker, Pim Van Der Harst, Daniel I Chasman, Christine M Albert
BACKGROUND: Observational studies have identified an association between body mass index (BMI) and incident atrial fibrillation (AF). Inferring causality from observational studies, however, is subject to residual confounding, reverse causation, and bias. The primary objective of this study was to evaluate the causal association between BMI and AF by using genetic predictors of BMI. METHODS: We identified 51 646 individuals of European ancestry without AF at baseline from 7 prospective population-based cohorts initiated between 1987 and 2002 in the United States, Iceland, and the Netherlands with incident AF ascertained between 1987 and 2012...
February 21, 2017: Circulation
https://www.readbyqxmd.com/read/27942580/genetic-variation-in-the-insulin-insulin-like-growth-factor-growth-hormone-and-leptin-pathways-in-relation-to-breast-cancer-in-african-american-women-the-amber-consortium
#19
Edward A Ruiz-Narváez, Kathryn L Lunetta, Chi-Chen Hong, Stephen Haddad, Song Yao, Ting-Yuan David Cheng, Jeannette T Bensen, Elisa V Bandera, Christopher A Haiman, Melissa A Troester, Christine B Ambrosone, Lynn Rosenberg, Julie R Palmer
The insulin/insulin-like growth factor (IGF) system and related pathways such as growth hormone, and leptin signaling have a key role in cancer development. It is unclear how germline variation in these pathways affects breast cancer risk. We conducted gene-based analyses of 184 genes in the insulin/IGF, growth hormone, and leptin pathways to identify genetic variation associated with risk of breast cancer overall, and for estrogen receptor (ER) subtypes. Tag single-nucleotide polymorphisms (SNPs) for each gene were selected and genotyped on a customized Illumina SNP array...
2016: NPJ Breast Cancer
https://www.readbyqxmd.com/read/27825120/trans-ethnic-follow-up-of-breast-cancer-gwas-hits-using-the-preferential-linkage-disequilibrium-approach
#20
Qianqian Zhu, Lori Shepherd, Kathryn L Lunetta, Song Yao, Qian Liu, Qiang Hu, Stephen A Haddad, Lara Sucheston-Campbell, Jeannette T Bensen, Elisa V Bandera, Lynn Rosenberg, Song Liu, Christopher A Haiman, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone
Leveraging population-distinct linkage equilibrium (LD) patterns, trans-ethnic follow-up of variants discovered from genome-wide association studies (GWAS) has proved to be useful in facilitating the identification of bona fide causal variants. We previously developed the preferential LD approach, a novel method that successfully identified causal variants driving the GWAS signals within European-descent populations even when the causal variants were only weakly linked with the GWAS-discovered variants. To evaluate the performance of our approach in a trans-ethnic setting, we applied it to follow up breast cancer GWAS hits identified mostly from populations of European ancestry in African Americans (AA)...
December 13, 2016: Oncotarget
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