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https://www.readbyqxmd.com/read/28337565/blood-trace-metals-in-a-sporadic-amyotrophic-lateral-sclerosis-geographical-cluster
#1
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...
March 23, 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
#2
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
#3
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...
February 23, 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27824142/gene-gene-interaction-analyses-for-atrial-fibrillation
#14
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
#15
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
#16
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
#17
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...
January 2017: Journal of Neurology
https://www.readbyqxmd.com/read/27770636/two-novel-loci-cobl-and-slc10a2-for-alzheimer-s-disease-in-african-americans
#18
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...
February 2017: 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
#19
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
#20
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
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