keyword
MENU ▼
Read by QxMD icon Read
search

lunetta

keyword
https://www.readbyqxmd.com/read/29917058/cross-sectional-association-of-frailty-and-arterial-stiffness-in-community-dwelling-older-adults-the-framingham-heart-study
#1
Ariela R Orkaby, Kathryn L Lunetta, Fangui J Sun, Jane A Driver, Emelia J Benjamin, Naomi M Hamburg, Gary F Mitchell, Ramachandran S Vasan, Joanne M Murabito
Background: Frailty is a risk factor for cardiovascular disease. Underlying mechanisms to explain the connection between frailty and cardiovascular disease are unclear. We sought to examine the association between frailty and arterial stiffness, a precursor of hypertension and cardiovascular disease. Methods: We conducted a cross-sectional analysis of community-dwelling Framingham Heart Study Offspring and Omni participants ≥60 years of age examined in 2005-2008...
June 18, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29901635/rapamycin-treatment-for-amyotrophic-lateral-sclerosis-protocol-for-a-phase-ii-randomized-double-blind-placebo-controlled-multicenter-clinical-trial-rap-als-trial
#2
Jessica Mandrioli, Roberto D'Amico, Elisabetta Zucchi, Annalisa Gessani, Nicola Fini, Antonio Fasano, Claudia Caponnetto, Adriano Chiò, Eleonora Dalla Bella, Christian Lunetta, Letizia Mazzini, Kalliopi Marinou, Gianni Sorarù, Sara de Biasi, Domenico Lo Tartaro, Marcello Pinti, Andrea Cossarizza
INTRODUCTION: Misfolded aggregated proteins and neuroinflammation significantly contribute to amyotrophic lateral sclerosis (ALS) pathogenesis, hence representing therapeutic targets to modify disease expression. Rapamycin inhibits mechanistic target of Rapamycin (mTOR) pathway and enhances autophagy with demonstrated beneficial effects in neurodegeneration in cell line and animal models, improving phenotype in SQSTM1 zebrafish, in Drosophila model of ALS-TDP, and in the TDP43 mouse model, in which it reduced neuronal loss and TDP43 inclusions...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29892015/multi-ethnic-genome-wide-association-study-for-atrial-fibrillation
#3
Carolina Roselli, Mark D Chaffin, Lu-Chen Weng, Stefanie Aeschbacher, Gustav Ahlberg, Christine M Albert, Peter Almgren, Alvaro Alonso, Christopher D Anderson, Krishna G Aragam, Dan E Arking, John Barnard, Traci M Bartz, Emelia J Benjamin, Nathan A Bihlmeyer, Joshua C Bis, Heather L Bloom, Eric Boerwinkle, Erwin B Bottinger, Jennifer A Brody, Hugh Calkins, Archie Campbell, Thomas P Cappola, John Carlquist, Daniel I Chasman, Lin Y Chen, Yii-Der Ida Chen, Eue-Keun Choi, Seung Hoan Choi, Ingrid E Christophersen, Mina K Chung, John W Cole, David Conen, James Cook, Harry J Crijns, Michael J Cutler, Scott M Damrauer, Brian R Daniels, Dawood Darbar, Graciela Delgado, Joshua C Denny, Martin Dichgans, Marcus Dörr, Elton A Dudink, Samuel C Dudley, Nada Esa, Tonu Esko, Markku Eskola, Diane Fatkin, Stephan B Felix, Ian Ford, Oscar H Franco, Bastiaan Geelhoed, Raji P Grewal, Vilmundur Gudnason, Xiuqing Guo, Namrata Gupta, Stefan Gustafsson, Rebecca Gutmann, Anders Hamsten, Tamara B Harris, Caroline Hayward, Susan R Heckbert, Jussi Hernesniemi, Lynne J Hocking, Albert Hofman, Andrea R V R Horimoto, Jie Huang, Paul L Huang, Jennifer Huffman, Erik Ingelsson, Esra Gucuk Ipek, Kaoru Ito, Jordi Jimenez-Conde, Renee Johnson, J Wouter Jukema, Stefan Kääb, Mika Kähönen, Yoichiro Kamatani, John P Kane, Adnan Kastrati, Sekar Kathiresan, Petra Katschnig-Winter, Maryam Kavousi, Thorsten Kessler, Bas L Kietselaer, Paulus Kirchhof, Marcus E Kleber, Stacey Knight, Jose E Krieger, Michiaki Kubo, Lenore J Launer, Jari Laurikka, Terho Lehtimäki, Kirsten Leineweber, Rozenn N Lemaitre, Man Li, Hong Euy Lim, Henry J Lin, Honghuang Lin, Lars Lind, Cecilia M Lindgren, Marja-Liisa Lokki, Barry London, Ruth J F Loos, Siew-Kee Low, Yingchang Lu, Leo-Pekka Lyytikäinen, Peter W Macfarlane, Patrik K Magnusson, Anubha Mahajan, Rainer Malik, Alfredo J Mansur, Gregory M Marcus, Lauren Margolin, Kenneth B Margulies, Winfried März, David D McManus, Olle Melander, Sanghamitra Mohanty, Jay A Montgomery, Michael P Morley, Andrew P Morris, Martina Müller-Nurasyid, Andrea Natale, Saman Nazarian, Benjamin Neumann, Christopher Newton-Cheh, Maartje N Niemeijer, Kjell Nikus, Peter Nilsson, Raymond Noordam, Heidi Oellers, Morten S Olesen, Marju Orho-Melander, Sandosh Padmanabhan, Hui-Nam Pak, Guillaume Paré, Nancy L Pedersen, Joanna Pera, Alexandre Pereira, David Porteous, Bruce M Psaty, Sara L Pulit, Clive R Pullinger, Daniel J Rader, Lena Refsgaard, Marta Ribasés, Paul M Ridker, Michiel Rienstra, Lorenz Risch, Dan M Roden, Jonathan Rosand, Michael A Rosenberg, Natalia Rost, Jerome I Rotter, Samir Saba, Roopinder K Sandhu, Renate B Schnabel, Katharina Schramm, Heribert Schunkert, Claudia Schurman, Stuart A Scott, Ilkka Seppälä, Christian Shaffer, Svati Shah, Alaa A Shalaby, Jaemin Shim, M Benjamin Shoemaker, Joylene E Siland, Juha Sinisalo, Moritz F Sinner, Agnieszka Slowik, Albert V Smith, Blair H Smith, J Gustav Smith, Jonathan D Smith, Nicholas L Smith, Elsayed Z Soliman, Nona Sotoodehnia, Bruno H Stricker, Albert Sun, Han Sun, Jesper H Svendsen, Toshihiro Tanaka, Kahraman Tanriverdi, Kent D Taylor, Maris Teder-Laving, Alexander Teumer, Sébastien Thériault, Stella Trompet, Nathan R Tucker, Arnljot Tveit, Andre G Uitterlinden, Pim Van Der Harst, Isabelle C Van Gelder, David R Van Wagoner, Niek Verweij, Efthymia Vlachopoulou, Uwe Völker, Biqi Wang, Peter E Weeke, Bob Weijs, Raul Weiss, Stefan Weiss, Quinn S Wells, Kerri L Wiggins, Jorge A Wong, Daniel Woo, Bradford B Worrall, Pil-Sung Yang, Jie Yao, Zachary T Yoneda, Tanja Zeller, Lingyao Zeng, Steven A Lubitz, Kathryn L Lunetta, Patrick T Ellinor
Atrial fibrillation (AF) affects more than 33 million individuals worldwide 1 and has a complex heritability 2 . We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF...
June 11, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29879116/genetic-ancestry-and-population-differences-in-levels-of-inflammatory-cytokines-in-women-role-for-evolutionary-selection-and-environmental-factors
#4
Song Yao, Chi-Chen Hong, Edward A Ruiz-Narváez, Sharon S Evans, Qianqian Zhu, Beverly A Schaefer, Li Yan, Marie V Coignet, Kathryn L Lunetta, Lara E Sucheston-Campbell, Kelvin Lee, Elisa V Bandera, Melissa A Troester, Lynn Rosenberg, Julie R Palmer, Andrew F Olshan, Christine B Ambrosone
Selection pressure due to exposure to infectious pathogens endemic to Africa may explain distinct genetic variations in immune response genes. However, the impact of those genetic variations on human immunity remains understudied, especially within the context of modern lifestyles and living environments, which are drastically different from early humans in sub Saharan Africa. There are few data on population differences in constitutional immune environment, where genetic ancestry and environment are likely two primary sources of variation...
June 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29871690/a-survey-of-microrna-single-nucleotide-polymorphisms-identifies-novel-breast-cancer-susceptibility-loci-in-a-case-control-population-based-study-of-african-american-women
#5
Jeannette T Bensen, Mariaelisa Graff, Kristin L Young, Praveen Sethupathy, Joel Parker, Chad V Pecot, Kevin Currin, Stephen A Haddad, Edward A Ruiz-Narváez, Christopher A Haiman, Chi-Chen Hong, Lara E Sucheston-Campbell, Qianqian Zhu, Song Liu, Song Yao, Elisa V Bandera, Lynn Rosenberg, Kathryn L Lunetta, Christine B Ambrosone, Julie R Palmer, Melissa A Troester, Andrew F Olshan
BACKGROUND: MicroRNAs (miRNAs) regulate gene expression and influence cancer. Primary transcripts of miRNAs (pri-miRNAs) are poorly annotated and little is known about the role of germline variation in miRNA genes and breast cancer (BC). We sought to identify germline miRNA variants associated with BC risk and tumor subtype among African-American (AA) women. METHODS: Under the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium, genotyping and imputed data from four studies on BC in AA women were combined into a final dataset containing 224,188 miRNA gene single nucleotide polymorphisms (SNPs) for 8350 women: 3663 cases and 4687 controls...
June 5, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29765003/passive-versus-active-circuit-during-invasive-mechanical-ventilation-in-subjects-with-amyotrophic-lateral-sclerosis
#6
Elisa De Mattia, Elisa Falcier, Andrea Lizio, Christian Lunetta, Valeria A Sansone, Nicola Barbarito, Barbara Garabelli, Marino Iatomasi, Elisabetta Roma, Fabrizio Rao, Annalisa Carlucci
BACKGROUND: Until recently, it has been considered essential to maintain the use of a double-limb circuit in patients with amyotrophic lateral sclerosis (ALS) to avoid rebreathing expired air during invasive mechanical ventilation. Currently, life-sustaining home ventilators can work with a single, lighter circuit that is easier to manage. Our aim was to evaluate the effectiveness and safety of a single-limb circuit with intentional leaks (passive circuit) in comparison with a circuit with an expiratory valve (active circuit), in subjects with ALS who use invasive home ventilation...
May 15, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29764471/inhaled-nitric-oxide-as-a-rescue-therapy-in-a-preterm-neonate-with-severe-pulmonary-hypertension-a-case-report
#7
Martina Busè, Francesco Graziano, Fabio Lunetta, Giorgio Sulliotti, Vincenzo Duca
BACKGROUND: Inhaled nitric oxide (iNO) has been approved for the treatment of persistent pulmonary hypertension of the newborn (PPHN) in term and near-term newborns. Its role in the management of persistent pulmonary hypertension in preterm infants is not clear. Although guidelines do not exist, some studies have shown that iNO could be used as a rescue therapy in preterm neonate with severe pulmonary hypertension. CASE PRESENTATION: We describe the case of a preterm neonate, born at 30 + 1 weeks of gestation, with hypoxic respiratory failure not responding to maximal conventional therapy...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29699974/lifetime-risk-of-atrial-fibrillation-according-to-optimal-borderline-or-elevated-levels-of-risk-factors-cohort-study-based-on-longitudinal-data-from-the-framingham-heart-study
#8
Laila Staerk, Biqi Wang, Sarah R Preis, Martin G Larson, Steven A Lubitz, Patrick T Ellinor, David D McManus, Darae Ko, Lu-Chen Weng, Kathryn L Lunetta, Lars Frost, Emelia J Benjamin, Ludovic Trinquart
OBJECTIVE: To examine the association between risk factor burdens-categorized as optimal, borderline, or elevated-and the lifetime risk of atrial fibrillation. DESIGN: Community based cohort study. SETTING: Longitudinal data from the Framingham Heart Study. PARTICIPANTS: Individuals free of atrial fibrillation at index ages 55, 65, and 75 years were assessed. Smoking, alcohol consumption, body mass index, blood pressure, diabetes, and history of heart failure or myocardial infarction were assessed as being optimal (that is, all risk factors were optimal), borderline (presence of borderline risk factors and absence of any elevated risk factor), or elevated (presence of at least one elevated risk factor) at index age...
April 26, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29566793/genome-wide-analyses-identify-kif5a-as-a-novel-als-gene
#9
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle, Alberto M Rivera, Wouter van Rheenen, Natalie A Murphy, Joke J F A van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Shankaracharya, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L Conforti, Giuseppe Borghero, Sonia Messina, Isabella L Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O Logullo, Sandra D'Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B Goldstein, Aaron D Gitler, Tim Harris, Richard M Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C Zody, Julia Kaye, Steven Finkbeiner, Stacia K Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N Svendsen, Leslie M Thompson, Jennifer E Van Eyk, James D Berry, Timothy M Miller, Stephen J Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W Orrell, Katie C Sidle, Andrea Malaspina, John Hardy, Andrew B Singleton, Janel O Johnson, Sampath Arepalli, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L M A Ten Asbroek, José Luis Muñoz-Blanco, Dena G Hernandez, Jinhui Ding, J Raphael Gibbs, Sonja W Scholz, Mary Kay Floeter, Roy H Campbell, Francesco Landi, Robert Bowser, Stefan M Pulst, John M Ravits, Daniel J L MacGowan, Janine Kirby, Erik P Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L Dunckley, Christopher B Brady, Neil W Kowall, Juan C Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H Baloh, Tim M Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L McLaughlin, Michael A Van Es, Markus Weber, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E Morrison, A Nazli Basak, Jesús S Mora, Vivian E Drory, Pamela J Shaw, Martin R Turner, Kevin Talbot, Orla Hardiman, Kelly L Williams, Jennifer A Fifita, Garth A Nicholson, Ian P Blair, Guy A Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W Ostrow, Nicholas J Maragakis, Jeffrey D Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A Goutman, Eva L Feldman, Summer B Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, William Camu, John Q Trojanowski, Vivianna M Van Deerlin, Robert H Brown, Leonard H van den Berg, Jan H Veldink, Matthew B Harms, Jonathan D Glass, David J Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E Shaw, Bryan J Traynor, John E Landers
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2)...
March 21, 2018: Neuron
https://www.readbyqxmd.com/read/29516269/tau-phosphorylation-is-impacted-by-rare-akap9-mutations-associated-with-alzheimer-disease-in-african-americans
#10
Tsuneya Ikezu, Cidi Chen, Annina M DeLeo, Ella Zeldich, M Daniele Fallin, Nicholas M Kanaan, Kathryn L Lunetta, Carmela R Abraham, Mark W Logue, Lindsay A Farrer
We studied the effect of two rare mutations (rs144662445 and rs149979685) in the A-kinase anchoring protein 9 (AKAP9) gene, previously associated with Alzheimer disease (AD) in African Americans (AA), on post-translational modifications of AD-related pathogenic molecules, amyloid precursor protein (APP) and microtubule-associated protein Tau using lymphoblastoid cell lines (LCLs) from 11 AA subjects with at least one AKAP9 mutation and 17 AA subjects lacking these mutations. LCLs were transduced by viral vectors expressing causative AD mutations in APP or human full-length wild type Tau...
June 2018: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/29512869/cardiovascular-diseases-may-play-a-negative-role-in-the-prognosis-of-amyotrophic-lateral-sclerosis
#11
J Mandrioli, L Ferri, A Fasano, E Zucchi, N Fini, C Moglia, C Lunetta, K Marinou, N Ticozzi, G Drago Ferrante, C Scialo, G Sorarù, F Trojsi, A Conte, Y M Falzone, R Tortelli, M Russo, V A Sansone, G Mora, V Silani, P Volanti, C Caponnetto, G Querin, M R Monsurrò, M Sabatelli, A Chiò, N Riva, G Logroscino, S Messina, A Calvo
BACKGROUND AND PURPOSE: Only a few studies have considered the role of comorbidities in the prognosis of amyotrophic lateral sclerosis (ALS) and have provided conflicting results. METHODS: Our multicentre, retrospective study included patients diagnosed from 1 January 2009 to 31 December 2013 in 13 referral centres for ALS located in 10 Italian regions. Neurologists at these centres collected a detailed phenotypic profile and follow-up data until death in an electronic database...
June 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29486463/genetic-variation-in-genes-underlying-diverse-dementias-may-explain-a-small-proportion-of-cases-in-the-alzheimer-s-disease-sequencing-project
#12
Elizabeth E Blue, Joshua C Bis, Michael O Dorschner, Debby W Tsuang, Sandra M Barral, Gary Beecham, Jennifer E Below, William S Bush, Mariusz Butkiewicz, Carlos Cruchaga, Anita DeStefano, Lindsay A Farrer, Alison Goate, Jonathan Haines, Jim Jaworski, Gyungah Jun, Brian Kunkle, Amanda Kuzma, Jenny J Lee, Kathryn L Lunetta, Yiyi Ma, Eden Martin, Adam Naj, Alejandro Q Nato, Patrick Navas, Hiep Nguyen, Christiane Reitz, Dolly Reyes, William Salerno, Gerard D Schellenberg, Sudha Seshadri, Harkirat Sohi, Timothy A Thornton, Otto Valadares, Cornelia van Duijn, Badri N Vardarajan, Li-San Wang, Eric Boerwinkle, Josée Dupuis, Margaret A Pericak-Vance, Richard Mayeux, Ellen M Wijsman
BACKGROUND/AIMS: The Alzheimer's Disease Sequencing Project (ADSP) aims to identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to cause dementias other than AD have previously been associated with AD risk. We describe evidence of co-segregation and associations between variants in dementia genes and clinically diagnosed AD within the ADSP. METHODS: We summarize the properties of known pathogenic variants within dementia genes, describe the co-segregation of variants annotated as "pathogenic" in ClinVar and new candidates observed in ADSP families, and test for associations between rare variants in dementia genes in the ADSP case-control study...
February 27, 2018: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/29458411/genome-wide-pleiotropy-analysis-of-neuropathological-traits-related-to-alzheimer-s-disease
#13
Jaeyoon Chung, Xiaoling Zhang, Mariet Allen, Xue Wang, Yiyi Ma, Gary Beecham, Thomas J Montine, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Kathryn L Lunetta, Jesse Mez, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard Schellenberg, Gyungah R Jun, Lindsay A Farrer
BACKGROUND: Simultaneous consideration of two neuropathological traits related to Alzheimer's disease (AD) has not been attempted in a genome-wide association study. METHODS: We conducted genome-wide pleiotropy analyses using association summary statistics from the Beecham et al. study (PLoS Genet 10:e1004606, 2014) for AD-related neuropathological traits, including neuritic plaque (NP), neurofibrillary tangle (NFT), and cerebral amyloid angiopathy (CAA). Significant findings were further examined by expression quantitative trait locus and differentially expressed gene analyses in AD vs...
February 20, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29374233/gwas-of-epigenetic-aging-rates-in-blood-reveals-a-critical-role-for-tert
#14
Ake T Lu, Luting Xue, Elias L Salfati, Brian H Chen, Luigi Ferrucci, Daniel Levy, Roby Joehanes, Joanne M Murabito, Douglas P Kiel, Pei-Chien Tsai, Idil Yet, Jordana T Bell, Massimo Mangino, Toshiko Tanaka, Allan F McRae, Riccardo E Marioni, Peter M Visscher, Naomi R Wray, Ian J Deary, Morgan E Levine, Austin Quach, Themistocles Assimes, Philip S Tsao, Devin Absher, James D Stewart, Yun Li, Alex P Reiner, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Abraham Aviv, Alexia Cardona, Felix R Day, Nicholas J Wareham, John R B Perry, Ken K Ong, Kenneth Raj, Kathryn L Lunetta, Steve Horvath
DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA...
January 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/29351100/sudden-unexpected-death-from-unusually-large-primary-cardiac-b-cell-lymphoma
#15
Julius Tikka, Samuli Vaittinen, Lasse Pakanen, Philippe Lunetta
Primary cardiac lymphomas represent approximately 1% to 2% of primary cardiac neoplasms and 5% of malignant cardiac neoplasms. Here we present a case of sudden unexpected death of a middle-aged male resulting from an unusually large cardiac B-cell lymphoma. The neoplasm infiltrated the myocardium of the right atrium and ventricle and, to a lesser extent, the wall of the left atrium and pulmonary trunk. Extensive infiltration of the heart by the primary cardiac lymphoma, combined with the complete lack of symptoms, makes this case unusual...
January 18, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29339359/genetic-variants-in-immune-related-pathways-and-breast-cancer-risk-in-african-american-women-in-the-amber-consortium
#16
Chi-Chen Hong, Lara E Sucheston-Campbell, Song Liu, Qiang Hu, Song Yao, Kathryn L Lunetta, Stephen A Haddad, Edward A Ruiz-Narváez, Jeannette T Bensen, Ting-Yuan David Cheng, Elisa V Bandera, Lynn A Rosenberg, Christopher A Haiman, Kelvin Lee, Sharon S Evans, Scott I Abrams, Elizabeth A Repasky, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone
Background: Constitutional immunity shaped by exposure to endemic infectious diseases and parasitic worms in Sub-Saharan Africa may play a role in the etiology of breast cancer among African American (AA) women. Methods: A total of 149,514 gene variants in 433 genes across 45 immune pathways were analyzed in the AMBER consortium among 3,663 breast cancer cases and 4,687 controls. Gene-based pathway analyses were conducted using the adaptive rank truncated product statistic for overall breast cancer risk, and risk by estrogen receptor (ER) status...
March 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29325096/genetic-determinants-of-circulating-estrogen-levels-and-evidence-of-a-causal-effect-of-estradiol-on-bone-density-in-men
#17
Anna L Eriksson, John R B Perry, Andrea D Coviello, Graciela E Delgado, Luigi Ferrucci, Andrew R Hoffman, Ilpo T Huhtaniemi, M Arfan Ikram, Magnus K Karlsson, Marcus E Kleber, Gail A Laughlin, Yongmei Liu, Mattias Lorentzon, Kathryn L Lunetta, Dan Mellström, Joanne M Murabito, Anna Murray, Maria Nethander, Carrie M Nielson, Inga Prokopenko, Stephen R Pye, Leslie J Raffel, Fernando Rivadeneira, Priya Srikanth, Lisette Stolk, Alexander Teumer, Thomas G Travison, André G Uitterlinden, Dhananjay Vaidya, Dirk Vanderschueren, Joseph M Zmuda, Winfried März, Eric S Orwoll, Pamela Ouyang, Liesbeth Vandenput, Frederick C W Wu, Frank H de Jong, Shalender Bhasin, Douglas P Kiel, Claes Ohlsson
Context: Serum estradiol (E2) and estrone (E1) levels exhibit substantial heritability. Objective: To investigate the genetic regulation of serum E2 and E1 in men. Design, Setting, and Participants: Genome-wide association study in 11,097 men of European origin from nine epidemiological cohorts. Main Outcome Measures: Genetic determinants of serum E2 and E1 levels. Results: Variants in/near CYP19A1 demonstrated the strongest evidence for association with E2, resolving to three independent signals...
March 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29274668/atxn1-intermediate-length-polyglutamine-expansions-are-associated-with-amyotrophic-lateral-sclerosis
#18
Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee, Marcella Zollino, Mario Sabatelli
To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1 alleles with ≥33 polyglutamine repeats was particularly high in the group of ALS patients carrying the C9orf72 expansion (12/59, 20...
April 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29274321/genome-wide-association-study-of-alzheimer-s-disease-endophenotypes-at-prediagnosis-stages
#19
Jaeyoon Chung, Xulong Wang, Toru Maruyama, Yiyi Ma, Xiaoling Zhang, Jesse Mez, Richard Sherva, Haruko Takeyama, Kathryn L Lunetta, Lindsay A Farrer, Gyungah R Jun
INTRODUCTION: Genetic associations for endophenotypes of Alzheimer's disease (AD) in cognitive stages preceding AD have not been thoroughly evaluated. METHODS: We conducted genome-wide association studies for AD-related endophenotypes including hippocampal volume, logical memory scores, and cerebrospinal fluid Aβ42 and total/phosphorylated tau in cognitively normal (CN), mild cognitive impairment, and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study...
May 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29237688/heritability-of-atrial-fibrillation
#20
Lu-Chen Weng, Seung Hoan Choi, Derek Klarin, J Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, Olivia L Hulme, Kathryn L Lunetta, Josée Dupuis, Emelia J Benjamin, Christopher Newton-Cheh, Sekar Kathiresan, Patrick T Ellinor, Steven A Lubitz
BACKGROUND: Previous reports have implicated multiple genetic loci associated with AF, but the contributions of genome-wide variation to AF susceptibility have not been quantified. METHODS AND RESULTS: We assessed the contribution of genome-wide single-nucleotide polymorphism variation to AF risk (single-nucleotide polymorphism heritability, h 2 g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF) in the population-based UK Biobank...
December 2017: Circulation. Cardiovascular Genetics
keyword
keyword
68831
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"