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https://www.readbyqxmd.com/read/27825120/trans-ethnic-follow-up-of-breast-cancer-gwas-hits-using-the-preferential-linkage-disequilibrium-approach
#1
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)...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27824142/gene-gene-interaction-analyses-for-atrial-fibrillation
#2
Honghuang Lin, Martina Mueller-Nurasyid, Albert V Smith, Dan E Arking, John Barnard, Traci M Bartz, Kathryn L Lunetta, Kurt Lohman, Marcus E Kleber, Steven A Lubitz, Bastiaan Geelhoed, Stella Trompet, Maartje N Niemeijer, Tim Kacprowski, Daniel I Chasman, Derek Klarin, Moritz F Sinner, Melanie Waldenberger, Thomas Meitinger, Tamara B Harris, Lenore J Launer, Elsayed Z Soliman, Lin Y Chen, Jonathan D Smith, David R Van Wagoner, Jerome I Rotter, Bruce M Psaty, Zhijun Xie, Audrey E Hendricks, Jingzhong Ding, Graciela E Delgado, Niek Verweij, Pim van der Harst, Peter W Macfarlane, Ian Ford, Albert Hofman, André Uitterlinden, Jan Heeringa, Oscar H Franco, Jan A Kors, Stefan Weiss, Henry Völzke, Lynda M Rose, Pradeep Natarajan, Sekar Kathiresan, Stefan Kääb, Vilmundur Gudnason, Alvaro Alonso, Mina K Chung, Susan R Heckbert, Emelia J Benjamin, Yongmei Liu, Winfried März, Michiel Rienstra, J Wouter Jukema, Bruno H Stricker, Marcus Dörr, Christine M Albert, Patrick T Ellinor
Atrial fibrillation (AF) is a heritable disease that affects more than thirty million individuals worldwide. Extensive efforts have been devoted to the study of genetic determinants of AF. The objective of our study is to examine the effect of gene-gene interaction on AF susceptibility. We performed a large-scale association analysis of gene-gene interactions with AF in 8,173 AF cases, and 65,237 AF-free referents collected from 15 studies for discovery. We examined putative interactions between genome-wide SNPs and 17 known AF-related SNPs...
November 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27816938/genome-wide-association-study-of-parental-life-span
#3
Toshiko Tanaka, Ambarish Dutta, Luke C Pilling, Luting Xue, Kathryn L Lunetta, Joanne M Murabito, Stefania Bandinelli, Robert Wallace, David Melzer, Luigi Ferrucci
BACKGROUND: Having longer lived parents has been shown to be an important predictor of health trajectories and life span. As such, parental life span is an important phenotype that may uncover genes that affect longevity. METHODS: A genome-wide association study of parental life span in participants of European and African ancestry from the Health and Retirement Study was conducted. RESULTS: A genome-wide significant association was observed for rs35715456 (log10BF = 6...
November 5, 2016: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/27793994/genetic-risk-prediction-of-atrial-fibrillation
#4
Steven A Lubitz, Xiaoyan Yin, Henry Lin, Matthew Kolek, J Gustav Smith, Stella Trompet, Michiel Rienstra, Natalia S Rost, Pedro Teixeira, Peter Almgren, Christopher D Anderson, Lin Y Chen, Gunnar Engström, Ian Ford, Karen L Furie, Xiuqing Guo, Martin G Larson, Kathryn Lunetta, Peter W Macfarlane, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, David J Stott, Kent D Taylor, Lu-Chen Weng, Jie Yao, Bastiaan Geelhoed, Niek Verweij, Joylene E Siland, Sekar Kathiresan, Carolina Roselli, Dan M Roden, Pim van der Harst, Dawood Darbar, J Wouter Jukema, Olle Melander, Jonathan Rosand, Jerome I Rotter, Susan R Heckbert, Patrick T Ellinor, Alvaro Alonso, Emelia J Benjamin
BACKGROUND: -Atrial fibrillation (AF) has a substantial genetic basis. Identification of individuals at greatest AF risk could minimize the incidence of cardioembolic stroke. METHODS: -To determine whether genetic data can stratify risk for development of AF, we examined associations between AF genetic risk scores and incident AF in five prospective studies comprising 18,919 individuals of European ancestry. We examined associations between AF genetic risk scores and ischemic stroke in a separate study of 509 ischemic stroke cases (202 cardioembolic [40%]) and 3,028 referents...
October 28, 2016: Circulation
https://www.readbyqxmd.com/read/27778156/factors-predicting-survival-in-als-a-multicenter-italian-study
#5
Andrea Calvo, Cristina Moglia, Christian Lunetta, Kalliopi Marinou, Nicola Ticozzi, Gianluca Drago Ferrante, Carlo Scialo, Gianni Sorarù, Francesca Trojsi, Amelia Conte, Yuri M Falzone, Rosanna Tortelli, Massimo Russo, Adriano Chiò, Valeria Ada Sansone, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Maria Rosaria Monsurrò, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Nicola Fini, Jessica Mandrioli
The aim of this multicenter, retrospective study is to investigate the role of clinical characteristics and therapeutic intervention on ALS prognosis. The study included patients diagnosed from January 1, 2009 to December 31, 2013 in 13 Italian referral centers for ALS located in 10 Italian regions. Caring neurologists collected a detailed phenotypic profile and follow-up data until death into an electronic database. One center collected also data from a population-based registry for ALS. 2648 incident cases were collected...
October 24, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27770636/two-novel-loci-cobl-and-slc10a2-for-alzheimer-s-disease-in-african-americans
#6
Jesse Mez, Jaeyoon Chung, Gyungah Jun, Joshua Kriegel, Alexandra P Bourlas, Richard Sherva, Mark W Logue, Lisa L Barnes, David A Bennett, Joseph D Buxbaum, Goldie S Byrd, Paul K Crane, Nilüfer Ertekin-Taner, Denis Evans, M Daniele Fallin, Tatiana Foroud, Alison Goate, Neill R Graff-Radford, Kathleen S Hall, M Ilyas Kamboh, Walter A Kukull, Eric B Larson, Jennifer J Manly, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Kathryn L Lunetta, Lindsay A Farrer
INTRODUCTION: African Americans' (AAs) late-onset Alzheimer's disease (LOAD) genetic risk profile is incompletely understood. Including clinical covariates in genetic analyses using informed conditioning might improve study power. METHODS: We conducted a genome-wide association study (GWAS) in AAs employing informed conditioning in 1825 LOAD cases and 3784 cognitively normal controls. We derived a posterior liability conditioned on age, sex, diabetes status, current smoking status, educational attainment, and affection status, with parameters informed by external prevalence information...
October 20, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27747724/citalopram-induced-long-qt-syndrome-and-the-mammalian-dive-reflex
#7
Frank F Vincenzi, Philippe Lunetta
While SCUBA diving, a 44-year-old Caucasian patient had an abnormal cardiac rhythm, presumably Torsade de Pointes (TdP), during the initial descent to depth. Upon surfacing, she developed ventricular fibrillation and died. The patient had been treated for mild depression for nearly a year with citalopram 60 mg per day, a drug known to cause prolonged QT interval. She had also been treated with two potentially hepatotoxic drugs. Liver impairment causes selective loss of cytochrome P450 (CYP) 2C19 activity, the major pathway for metabolism of citalopram...
December 2015: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/27708667/admixture-mapping-of-african-american-women-in-the-amber-consortium-identifies-new-loci-for-breast-cancer-and-estrogen-receptor-subtypes
#8
Edward A Ruiz-Narváez, Lara Sucheston-Campbell, Jeannette T Bensen, Song Yao, Stephen Haddad, Christopher A Haiman, Elisa V Bandera, Esther M John, Leslie Bernstein, Jennifer J Hu, Regina G Ziegler, Sandra L Deming, Andrew F Olshan, Christine B Ambrosone, Julie R Palmer, Kathryn L Lunetta
Recent genetic admixture coupled with striking differences in incidence of estrogen receptor (ER) breast cancer subtypes, as well as severity, between women of African and European ancestry, provides an excellent rationale for performing admixture mapping in African American women with breast cancer risk. We performed the largest breast cancer admixture mapping study with in African American women to identify novel genomic regions associated with the disease. We conducted a genome-wide admixture scan using 2,624 autosomal ancestry informative markers (AIMs) in 3,629 breast cancer cases (including 1,968 ER-positive, 1093 ER-negative, and 601 triple-negative) and 4,658 controls from the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium, a collaborative study of four large geographically different epidemiological studies of breast cancer in African American women...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27690265/dna-methylation-based-measures-of-biological-age-meta-analysis-predicting-time-to-death
#9
Brian H Chen, Riccardo E Marioni, Elena Colicino, Marjolein J Peters, Cavin K Ward-Caviness, Pei-Chien Tsai, Nicholas S Roetker, Allan C Just, Ellen W Demerath, Weihua Guan, Jan Bressler, Myriam Fornage, Stephanie Studenski, Amy R Vandiver, Ann Zenobia Moore, Toshiko Tanaka, Douglas P Kiel, Liming Liang, Pantel Vokonas, Joel Schwartz, Kathryn L Lunetta, Joanne M Murabito, Stefania Bandinelli, Dena G Hernandez, David Melzer, Michael Nalls, Luke C Pilling, Timothy R Price, Andrew B Singleton, Christian Gieger, Rolf Holle, Anja Kretschmer, Florian Kronenberg, Sonja Kunze, Jakob Linseisen, Christine Meisinger, Wolfgang Rathmann, Melanie Waldenberger, Peter M Visscher, Sonia Shah, Naomi R Wray, Allan F McRae, Oscar H Franco, Albert Hofman, André G Uitterlinden, Devin Absher, Themistocles Assimes, Morgan E Levine, Ake T Lu, Philip S Tsao, Lifang Hou, JoAnn E Manson, Cara L Carty, Andrea Z LaCroix, Alexander P Reiner, Tim D Spector, Andrew P Feinberg, Daniel Levy, Andrea Baccarelli, Joyce van Meurs, Jordana T Bell, Annette Peters, Ian J Deary, James S Pankow, Luigi Ferrucci, Steve Horvath
Estimates of biological age based on DNA methylation patterns, often referred to as "epigenetic age", "DNAm age", have been shown to be robust biomarkers of age in humans. We previously demonstrated that independent of chronological age, epigenetic age assessed in blood predicted all-cause mortality in four human cohorts. Here, we expanded our original observation to 13 different cohorts for a total sample size of 13,089 individuals, including three racial/ethnic groups. In addition, we examined whether incorporating information on blood cell composition into the epigenetic age metrics improves their predictive power for mortality...
September 28, 2016: Aging
https://www.readbyqxmd.com/read/27666935/clinical-exome-sequencing-in-early-onset-generalized-dystonia-and-large-scale-resequencing-follow-up
#10
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner, Joerg Mueller, Andres Ceballos-Baumann, Tim M Strom, Roberto Colombo, Werner Poewe, Bernhard Haslinger, Juliane Winkelmann
BACKGROUND: Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. METHODS: Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on 16 consecutive cases with genetically undefined early-onset generalized dystonia...
September 26, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27651843/osteopathic-manual-treatment-for-amyotrophic-lateral-sclerosis-a-feasibility-pilot-study
#11
Alberto Maggiani, Lucio Tremolizzo, Andrea Della Valentina, Laurent Mapelli, Silvia Sosio, Valeria Milano, Manuel Bianchi, Francesco Badi, Carolina Lavazza, Marco Grandini, Giovanni Corna, Paola Prometti, Christian Lunetta, Nilo Riva, Alessandra Ferri, Francesca Lanfranconi
BACKGROUND: Current interventions in amyotrophic lateral sclerosis (ALS) are focused on supporting quality of life (QoL) and easing pain with a multidisciplinary approach. OBJECTIVE: Primary aim of this pilot work assessed feasibility, safety, tolerability and satisfaction of osteopathic manual treatment (OMT) in 14 ALS outpatients. METHODS: Patients were randomized according to an initial single-blind design (12 weeks, T0-T1), in order to receive OMT (weekly for 4 weeks, and fortnightly for the following 8 weeks) versus usual-care (n=7 each group), followed by an OMT open period (T1-T2, once a week for 8 weeks, n=10)...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27594435/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
Multiple breast cancer loci have been identified in previous genome-wide association studies, but they were mainly conducted in populations of European ancestry. Women of African ancestry are more likely to have young-onset and oestrogen receptor (ER) negative breast cancer for reasons that are unknown and understudied. To identify genetic risk factors for breast cancer in women of African descent, we conducted a meta-analysis of two genome-wide association studies of breast cancer; one study consists of 1,657 cases and 2,029 controls genotyped with Illumina's HumanOmni2...
September 4, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27589061/whole-exome-sequencing-in-atrial-fibrillation
#13
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution of coding variation to AF susceptibility remains poorly understood. We examined whole exome sequencing data in a large community-based sample of 1,734 individuals with and 9,423 without AF from the Framingham Heart Study, Cardiovascular Health Study, Atherosclerosis Risk in Communities Study, and NHLBI-GO Exome Sequencing Project and meta-analyzed the results...
September 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27576319/phenotypically-enriched-genotypic-imputation-in-genetic-association-tests
#14
Wei Vivian Zhuang, Joanne M Murabito, Kathryn L Lunetta
BACKGROUND: In longitudinal epidemiological studies there may be individuals with rich phenotype data who die or are lost to follow-up before providing DNA for genetic studies. Often, the genotypic and phenotypic data of the relatives are available. Two strategies for analyzing the incomplete data are to exclude ungenotyped subjects from analysis (the complete-case method, CC) and to include phenotyped but ungenotyped individuals in analysis by using relatives' genotypes for genotype imputation (GI)...
August 31, 2016: Human Heredity
https://www.readbyqxmd.com/read/27513746/microstructural-correlates-of-emotional-attribution-impairment-in-non-demented-patients-with-amyotrophic-lateral-sclerosis
#15
Chiara Crespi, Chiara Cerami, Alessandra Dodich, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Stefano F Cappa
Impairments in the ability to recognize and attribute emotional states to others have been described in amyotrophic lateral sclerosis patients and linked to the dysfunction of key nodes of the emotional empathy network. Microstructural correlates of such disorders are still unexplored. We investigated the white-matter substrates of emotional attribution deficits in a sample of amyotrophic lateral sclerosis patients without cognitive decline. Thirteen individuals with either probable or definite amyotrophic lateral sclerosis and 14 healthy controls were enrolled in a Diffusion Tensor Imaging study and administered the Story-based Empathy Task, assessing the ability to attribute mental states to others (i...
2016: PloS One
https://www.readbyqxmd.com/read/27485598/genetic-variations-in-the-hippo-signaling-pathway-and-breast-cancer-risk-in-african-american-women-in-the-amber-consortium
#16
Jianmin Zhang, Song Yao, Qiang Hu, Qianqian Zhu, Song Liu, Kathryn L Lunetta, Stephen A Haddad, Nuo Yang, He Shen, Chi-Chen Hong, Lara Sucheston-Campbell, Edward A Ruiz-Narvaez, Jeannette T Bensen, Melissa A Troester, Elisa V Bandera, Lynn Rosenberg, Christopher A Haiman, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone
The Hippo signaling pathway regulates cellular proliferation and survival, thus exerting profound effects on normal cell fate and tumorigenesis. Dysfunction of the Hippo pathway components has been linked with breast cancer stem cell regulation, as well as breast tumor progression and metastasis. TAZ, a key component of the Hippo pathway, is highly expressed in triple negative breast cancer; however, the associations of genetic variations in this important pathway with breast cancer risk remain largely unexplored...
October 2016: Carcinogenesis
https://www.readbyqxmd.com/read/27460291/sport-activity-in-charcot-marie-tooth-disease-a-case-study-of-a-paralympic-swimmer
#17
Giuseppe Vita, Stefania La Foresta, Massimo Russo, Gian Luca Vita, Sonia Messina, Christian Lunetta, Anna Mazzeo
This study reports the positive physical, emotional and psychosocial changes induced by sport activity in a Paralympic swimmer with Charcot-Marie-Tooth (CMT) type 4A. When we compared evaluations before initiating sport activity with those after five years of competitive activity, we found: i) increased proximal muscles strength of upper limbs; ii) augmented ability to propel wheelchair independently; iii) improved quality of life; iv) reduced trait anxiety and striking improvement of depression; v) enhanced self-esteem...
September 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27455348/genome-wide-association-analyses-identify-new-risk-variants-and-the-genetic-architecture-of-amyotrophic-lateral-sclerosis
#18
Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, R Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk...
September 2016: Nature Genetics
https://www.readbyqxmd.com/read/27325353/gwas-analysis-of-handgrip-and-lower-body-strength-in-older-adults-in-the-charge-consortium
#19
Amy M Matteini, Toshiko Tanaka, David Karasik, Gil Atzmon, Wen-Chi Chou, John D Eicher, Andrew D Johnson, Alice M Arnold, Michele L Callisaya, Gail Davies, Daniel S Evans, Birte Holtfreter, Kurt Lohman, Kathryn L Lunetta, Massimo Mangino, Albert V Smith, Jennifer A Smith, Alexander Teumer, Lei Yu, Dan E Arking, Aron S Buchman, Lori B Chibinik, Philip L De Jager, Denis A Evans, Jessica D Faul, Melissa E Garcia, Irina Gillham-Nasenya, Vilmundur Gudnason, Albert Hofman, Yi-Hsiang Hsu, Till Ittermann, Lies Lahousse, David C Liewald, Yongmei Liu, Lorna Lopez, Fernando Rivadeneira, Jerome I Rotter, Kristin Siggeirsdottir, John M Starr, Russell Thomson, Gregory J Tranah, André G Uitterlinden, Uwe Völker, Henry Völzke, David R Weir, Kristine Yaffe, Wei Zhao, Wei Vivian Zhuang, Joseph M Zmuda, David A Bennett, Steven R Cummings, Ian J Deary, Luigi Ferrucci, Tamara B Harris, Sharon L R Kardia, Thomas Kocher, Stephen B Kritchevsky, Bruce M Psaty, Sudha Seshadri, Timothy D Spector, Velandai K Srikanth, B Gwen Windham, M Carola Zillikens, Anne B Newman, Jeremy D Walston, Douglas P Kiel, Joanne M Murabito
Decline in muscle strength with aging is an important predictor of health trajectory in the elderly. Several factors, including genetics, are proposed contributors to variability in muscle strength. To identify genetic contributors to muscle strength, a meta-analysis of genomewide association studies of handgrip was conducted. Grip strength was measured using a handheld dynamometer in 27 581 individuals of European descent over 65 years of age from 14 cohort studies. Genomewide association analysis was conducted on ~2...
October 2016: Aging Cell
https://www.readbyqxmd.com/read/27267999/an-exome-wide-analysis-of-low-frequency-and-rare-variants-in-relation-to-risk-of-breast-cancer-in-african-american-women-the-amber-consortium
#20
Stephen A Haddad, Edward A Ruiz-Narváez, Christopher A Haiman, Lara E Sucheston-Campbell, Jeannette T Bensen, Qianqian Zhu, Song Liu, Song Yao, Elisa V Bandera, Lynn Rosenberg, Andrew F Olshan, Christine B Ambrosone, Julie R Palmer, Kathryn L Lunetta
A large percentage of breast cancer heritability remains unaccounted for, and most of the known susceptibility loci have been established in European and Asian populations. Rare variants may contribute to the unexplained heritability of this disease, including in women of African ancestry (AA). We conducted an exome-wide analysis of rare variants in relation to risk of overall and subtype-specific breast cancer in the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium, which includes data from four large studies of AA women...
September 2016: Carcinogenesis
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