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https://www.readbyqxmd.com/read/27900368/whole-exome-sequencing-reveals-an-inherited-r566x-mutation-of-the-epithelial-sodium-channel-%C3%AE-subunit-in-a-case-of-early-onset-phenotype-of-liddle-syndrome
#1
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Megan Grove, Sanjay Shete, Stephanie Wallace, Dianna Milewicz, Neil Hanchard, James R Lupski, Syed Shahrukh Hashmi, Monesha Gupta-Malhotra
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27896036/detecting-sedimentation-impacts-to-coral-reefs-resulting-from-dredging-the-port-of-miami-florida-usa
#2
Margaret W Miller, Jocelyn Karazsia, Carolyn E Groves, Sean Griffin, Tom Moore, Pace Wilber, Kurtis Gregg
The federal channel at Port of Miami, Florida, USA, was dredged between late 2013 and early 2015 to widen and deepen the channel. Due to the limited spatial extent of impact-assessment monitoring associated with the project, the extent of the dredging impacts on surrounding coral reefs has not been well quantified. Previously published remote sensing analyses, as well as agency and anecdotal reports suggest the most severe and largest area of sedimentation occurred on a coral reef feature referred to as the Inner Reef, particularly in the sector north of the channel...
2016: PeerJ
https://www.readbyqxmd.com/read/27865183/feasibility-of-low-radiation-dose-retrospectively-gated-cardiac-ct-for-functional-analysis-in-adult-congenital-heart-disease
#3
Daniel W Groves, Laura J Olivieri, Sujata M Shanbhag, Kathie C Bronson, Jeannie H Yu, Evan A Nelson, Shirley F Rollison, Michael S Stagliano, Anitha S John, Karen Kuehl, Marcus Y Chen
BACKGROUND: The use of cardiac computed tomography (CT) in the evaluation of adult congenital heart disease patients is limited due to concerns of high radiation doses. The purpose of this study was to prospectively assess whether low radiation dose cardiac CT is feasible to evaluate ventricular systolic function in adults with congenital heart disease. METHODS: The study group included 30 consecutive patients with significant congenital heart disease who underwent a total of 35 ECG-gated cardiac CT scans utilizing a 320-detector row CT scanner...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27858267/correlation-of-higher-levels-of-soluble-tnf-r1-with-a-shorter-survival-independent-of-age-in-recurrent-glioblastoma
#4
Manmeet S Ahluwalia, Stephanie Bou-Anak, Monica E Burgett, Nehaw Sarmey, Divya Khosla, Saurabh Dahiya, Robert J Weil, Eunnyung Bae, Ping Huang, Mary McGraw, Lisa M Grove, Mitchell A Olman, Richard A Prayson, John H Suh, G Yancey Gillespie, Jill Barnholtz-Sloan, Amy S Nowacki, Gene H Barnett, Candece L Gladson
The circulating levels of soluble tumor necrosis factor receptor-1 (sTNF-R1) and sTNF-R2 are altered in numerous diseases, including several types of cancer. Correlations with the risk of progression in some cancers, as well as systemic manifestations of the disease and therapeutic side-effects, have been described. However, there is very little information on the levels of these soluble receptors in glioblastoma (GBM). Here, we report on an exploratory retrospective study of the levels of sTNF-Rs in the vascular circulation of patients with GBM...
November 17, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27849439/liver-proteome-in-diabetes-type-1-rat-model-insulin-dependent-and-independent-changes
#5
Camila Pereira Braga, Cory H T Boone, Ryan A Grove, Dana Adamcova, Ana Angélica Henrique Fernandes, Jiri Adamec, Pedro de Magalhães Padilha
Diabetes mellitus type 1 (DM1) is a major public health problem that continues to burden the healthcare systems worldwide, costing exponentially more as the epidemic grows. Innovative strategies and omics system diagnostics for earlier diagnosis or prognostication of DM1 are essential to prevent secondary complications and alleviate the associated economic burden. In a preclinical study design that involved streptozotocin (STZ)-induced DM1, insulin-treated STZ-induced DM1, and control rats, we characterized the insulin-dependent and -independent changes in protein profiles in liver samples...
December 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27831543/a-distinct-colon-derived-breath-metabolome-is-associated-with-inflammatory-bowel-disease-but-not-its-complications
#6
Florian Rieder, Satya Kurada, David Grove, Frank Cikach, Rocio Lopez, Nishaben Patel, Amandeep Singh, Naim Alkhouri, Bo Shen, Aaron Brzezinski, Mark Baker, Claudio Fiocchi, Raed A Dweik
OBJECTIVES: The accuracy of available noninvasive biomarkers for diagnosis, stratification, and prediction of inflammatory bowel disease (IBD) courses is limited. We analyzed volatile organic compounds (VOCs) in the breath of IBD patients and controls for diagnosis and differentiation of IBD as well as their link with disease location, activity, and phenotype. METHODS: A prospective study of diagnostic testing was conducted, recruiting Crohn's disease (CD), ulcerative colitis (UC), other inflammatory gastrointestinal diseases (OGDs), and healthy controls (HCs), as well as subjects with ileal pouch anal anastomosis (IPAA)...
November 10, 2016: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/27818333/pulmonary-hypertension-care-center-network-improving-care-and-outcomes-in-ph
#7
Sandeep Sahay, Lana Melendres-Groves, Leena Pawar, Hector R Cajigas
Pulmonary Hypertension (PH) is a chronic, progressive, life threatening disease that requires multidisciplinary expert care. To facilitate this expert, multidisciplinary care, the PH association established a network of pulmonary hypertension care centers (PHCC) with special expertise in pulmonary hypertension (PH), particularly pulmonary arterial hypertension (PAH), to raise the overall quality of care and outcomes in patients with this life-threatening disease across the United States (US). Since the inception of PHCC in September 2014, till date thirty-five centers have been accredited in the US...
November 3, 2016: Chest
https://www.readbyqxmd.com/read/27803374/impact-of-feeding-and-housing-systems-on-disease-incidence-in-dairy-calves
#8
G C Curtis, C McG Argo, D Jones, D H Grove-White
Contentious issues in calf rearing include milk feeding level and single versus group housing. The current study was performed on a high-producing 170 Holstein cow dairy farm to investigate the impact of nutrition and housing on disease incidence. Calves (n=100) were allocated in birth order to one of two commonly used feeding strategies. Group A calves were group housed from birth and fed ad libitum milk replacer (MR) via a computerised machine using a single teat, with weaning commencing at 63 days. Group R calves were initially housed in individual pens receiving 2...
November 1, 2016: Veterinary Record
https://www.readbyqxmd.com/read/27789570/management-of-antithrombotic-therapy-after-bleeding-in-patients-with-coronary-artery-disease-and-or-atrial-fibrillation-expert-consensus-paper-of-the-european-society-of-cardiology-working-group-on-thrombosis
#9
Sigrun Halvorsen, Robert F Storey, Bianca Rocca, Dirk Sibbing, Jurrien Ten Berg, Erik Lerkevang Grove, Thomas W Weiss, Jean-Philippe Collet, Felicita Andreotti, Dietrich C Gulba, Gregory Y H Lip, Steen Husted, Gemma Vilahur, Joao Morais, Freek W A Verheugt, Angel Lanas, Rustam Al-Shahi Salman, Philippe Gabriel Steg, Kurt Huber
No abstract text is available yet for this article.
October 27, 2016: European Heart Journal
https://www.readbyqxmd.com/read/27766665/early-lipofuscin-accumulation-in-frontal-lobe-epilepsy
#10
Joan Yw Liu, Cheryl Reeves, Beate Diehl, Antonietta Coppola, Aliya Al-Hajri, Chandrashekar Hoskote, Salim Al Mughairy, Mohamed Tachrount, Michael Groves, Zuzanna Michalak, Kevin Mills, Andrew W McEvoy, Anna Miserocchi, Sanjay M Sisodiya, Maria Thom
OBJECTIVE: This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. METHODS: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle-mediated trafficking as well as proteomics analysis...
October 20, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27766618/human-cystatin-c-monomer-dimer-oligomer-and-amyloid-structures-are-related-to-health-and-disease
#11
REVIEW
Przemyslaw Jurczak, Patrick Groves, Aneta Szymanska, Sylwia Rodziewicz-Motowidlo
Human cystatin C (hCC) is a small protein belonging to the cystatin family of papain-like cysteine proteinase inhibitors. We review the recent literature concerning structural aspects of hCC related to disease. We focus on the mechanisms of hCC dimerization, oligomerization, and amyloid formation. Amyloid formation is associated with a number of neurodegenerative diseases that affect the independence and quality of life of aging populations. hCC is one of the second-wave proteins that have been found to undergo amyloidosis associated with disease...
October 19, 2016: FEBS Letters
https://www.readbyqxmd.com/read/27764101/rare-functional-variant-in-tm2d3-is-associated-with-late-onset-alzheimer-s-disease
#12
Johanna Jakobsdottir, Sven J van der Lee, Joshua C Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto, Megan L Grove, Adam Naj, Maria Vronskaya, Jose L Salazar, Anita L DeStefano, Jennifer A Brody, Albert V Smith, Najaf Amin, Rebecca Sims, Carla A Ibrahim-Verbaas, Seung-Hoan Choi, Claudia L Satizabal, Oscar L Lopez, Alexa Beiser, M Arfan Ikram, Melissa E Garcia, Caroline Hayward, Tibor V Varga, Samuli Ripatti, Paul W Franks, Göran Hallmans, Olov Rolandsson, Jan-Håkon Jansson, David J Porteous, Veikko Salomaa, Gudny Eiriksdottir, Kenneth M Rice, Hugo J Bellen, Daniel Levy, Andre G Uitterlinden, Valur Emilsson, Jerome I Rotter, Thor Aspelund, Christopher J O'Donnell, Annette L Fitzpatrick, Lenore J Launer, Albert Hofman, Li-San Wang, Julie Williams, Gerard D Schellenberg, Eric Boerwinkle, Bruce M Psaty, Sudha Seshadri, Joshua M Shulman, Vilmundur Gudnason, Cornelia M van Duijn
We performed an exome-wide association analysis in 1393 late-onset Alzheimer's disease (LOAD) cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L) in TM2D3 was enriched in Icelanders (~0.5% versus <0.05% in other European populations). In 433 LOAD cases and 3903 controls from the Icelandic AGES sub-study, P155L was associated with increased risk and earlier onset of LOAD [odds ratio (95% CI) = 7.5 (3.5-15.9), p = 6.6x10-9]. Mutation in the Drosophila TM2D3 homolog, almondex, causes a phenotype similar to loss of Notch/Presenilin signaling...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27734025/maternal-obesity-reduces-oxidative-capacity-in-fetal-skeletal-muscle-of-japanese-macaques
#13
Carrie E McCurdy, Simon Schenk, Byron Hetrick, Julie Houck, Brian G Drew, Spencer Kaye, Melanie Lashbrook, Bryan C Bergman, Diana L Takahashi, Tyler A Dean, Travis Nemkov, Ilya Gertsman, Kirk C Hansen, Andrew Philp, Andrea L Hevener, Adam J Chicco, Kjersti M Aagaard, Kevin L Grove, Jacob E Friedman
Maternal obesity is proposed to alter the programming of metabolic systems in the offspring, increasing the risk for developing metabolic diseases; however, the cellular mechanisms remain poorly understood. Here, we used a nonhuman primate model to examine the impact of a maternal Western-style diet (WSD) alone, or in combination with obesity (Ob/WSD), on fetal skeletal muscle metabolism studied in the early third trimester. We find that fetal muscle responds to Ob/WSD by upregulating fatty acid metabolism, mitochondrial complex activity, and metabolic switches (CPT-1, PDK4) that promote lipid utilization over glucose oxidation...
October 6, 2016: JCI Insight
https://www.readbyqxmd.com/read/27707945/disrupting-mating-behavior-of-diaphorina-citri-liviidae
#14
S Lujo, E Hartman, K Norton, E A Pregmon, B B Rohde, R W Mankin
Severe economic damage from citrus greening disease, caused by 'Candidatus Liberibacter asiaticus' bacteria, has stimulated development of methods to reduce mating and reproduction in populations of its insect vector, Diaphorina citri (Hemiptera: Liviidae). Male D. citri find mating partners by walking on host plants, intermittently producing vibrational calls that stimulate duetting replies by receptive females. The replies provide orientational feedback, assisting the search process. To test a hypothesis that D...
October 5, 2016: Journal of Economic Entomology
https://www.readbyqxmd.com/read/27681629/early-somatic-mosaicism-is-a-rare-cause-of-long-qt-syndrome
#15
James Rush Priest, Charles Gawad, Kristopher M Kahlig, Joseph K Yu, Thomas O'Hara, Patrick M Boyle, Sridharan Rajamani, Michael J Clark, Sarah T K Garcia, Scott Ceresnak, Jason Harris, Sean Boyle, Frederick E Dewey, Lindsey Malloy-Walton, Kyla Dunn, Megan Grove, Marco V Perez, Norma F Neff, Richard Chen, Katsuhide Maeda, Anne Dubin, Luiz Belardinelli, John West, Christian Antolik, Daniela Macaya, Thomas Quertermous, Natalia A Trayanova, Stephen R Quake, Euan A Ashley
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel NaV1.5 encoded by SCN5A, NM_000335:c.5284G > T predicting p.(V1762L), but read depth was insufficient to be diagnostic. Exome sequencing of the trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband...
October 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27680694/genome-wide-associations-for-birth-weight-and-correlations-with-adult-disease
#16
Momoko Horikoshi, Robin N Beaumont, Felix R Day, Nicole M Warrington, Marjolein N Kooijman, Juan Fernandez-Tajes, Bjarke Feenstra, Natalie R van Zuydam, Kyle J Gaulton, Niels Grarup, Jonathan P Bradfield, David P Strachan, Ruifang Li-Gao, Tarunveer S Ahluwalia, Eskil Kreiner, Rico Rueedi, Leo-Pekka Lyytikäinen, Diana L Cousminer, Ying Wu, Elisabeth Thiering, Carol A Wang, Christian T Have, Jouke-Jan Hottenga, Natalia Vilor-Tejedor, Peter K Joshi, Eileen Tai Hui Boh, Ioanna Ntalla, Niina Pitkänen, Anubha Mahajan, Elisabeth M van Leeuwen, Raimo Joro, Vasiliki Lagou, Michael Nodzenski, Louise A Diver, Krina T Zondervan, Mariona Bustamante, Pedro Marques-Vidal, Josep M Mercader, Amanda J Bennett, Nilufer Rahmioglu, Dale R Nyholt, Ronald C W Ma, Claudia H T Tam, Wing Hung Tam, Santhi K Ganesh, Frank J A van Rooij, Samuel E Jones, Po-Ru Loh, Katherine S Ruth, Marcus A Tuke, Jessica Tyrrell, Andrew R Wood, Hanieh Yaghootkar, Denise M Scholtens, Lavinia Paternoster, Inga Prokopenko, Peter Kovacs, Mustafa Atalay, Sara M Willems, Kalliope Panoutsopoulou, Xu Wang, Lisbeth Carstensen, Frank Geller, Katharina E Schraut, Mario Murcia, Catharina E M van Beijsterveldt, Gonneke Willemsen, Emil V R Appel, Cilius E Fonvig, Caecilie Trier, Carla M T Tiesler, Marie Standl, Zoltán Kutalik, Sílvia Bonàs-Guarch, David M Hougaard, Friman Sánchez, David Torrents, Johannes Waage, Mads V Hollegaard, Hugoline G de Haan, Frits R Rosendaal, Carolina Medina-Gomez, Susan M Ring, Gibran Hemani, George McMahon, Neil R Robertson, Christopher J Groves, Claudia Langenberg, Jian'an Luan, Robert A Scott, Jing Hua Zhao, Frank D Mentch, Scott M MacKenzie, Rebecca M Reynolds, William L Lowe, Anke Tönjes, Michael Stumvoll, Virpi Lindi, Timo A Lakka, Cornelia M van Duijn, Wieland Kiess, Antje Körner, Thorkild I A Sørensen, Harri Niinikoski, Katja Pahkala, Olli T Raitakari, Eleftheria Zeggini, George V Dedoussis, Yik-Ying Teo, Seang-Mei Saw, Mads Melbye, Harry Campbell, James F Wilson, Martine Vrijheid, Eco J C N de Geus, Dorret I Boomsma, Haja N Kadarmideen, Jens-Christian Holm, Torben Hansen, Sylvain Sebert, Andrew T Hattersley, Lawrence J Beilin, John P Newnham, Craig E Pennell, Joachim Heinrich, Linda S Adair, Judith B Borja, Karen L Mohlke, Johan G Eriksson, Elisabeth Widén, Mika Kähönen, Jorma S Viikari, Terho Lehtimäki, Peter Vollenweider, Klaus Bønnelykke, Hans Bisgaard, Dennis O Mook-Kanamori, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Charlotta Pisinger, Oluf Pedersen, Christine Power, Elina Hyppönen, Nicholas J Wareham, Hakon Hakonarson, Eleanor Davies, Brian R Walker, Vincent W V Jaddoe, Marjo-Riitta Järvelin, Struan F A Grant, Allan A Vaag, Debbie A Lawlor, Timothy M Frayling, George Davey Smith, Andrew P Morris, Ken K Ong, Janine F Felix, Nicholas J Timpson, John R B Perry, David M Evans, Mark I McCarthy, Rachel M Freathy
Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P < 5 × 10(-8))...
September 28, 2016: Nature
https://www.readbyqxmd.com/read/27651444/epigenetic-signatures-of-cigarette-smoking
#17
Roby Joehanes, Allan C Just, Riccardo E Marioni, Luke C Pilling, Lindsay M Reynolds, Pooja R Mandaviya, Weihua Guan, Tao Xu, Cathy E Elks, Stella Aslibekyan, Hortensia Moreno-Macias, Jennifer A Smith, Jennifer A Brody, Radhika Dhingra, Paul Yousefi, James S Pankow, Sonja Kunze, Sonia Shah, Allan F McRae, Kurt Lohman, Jin Sha, Devin M Absher, Luigi Ferrucci, Wei Zhao, Ellen W Demerath, Jan Bressler, Megan L Grove, Tianxiao Huan, Chunyu Liu, Michael M Mendelson, Chen Yao, Douglas P Kiel, Annette Peters, Rui Wang-Sattler, Peter M Visscher, Naomi R Wray, John M Starr, Jingzhong Ding, Carlos J Rodriguez, Nicholas J Wareham, Marguerite R Irvin, Degui Zhi, Myrto Barrdahl, Paolo Vineis, Srikant Ambatipudi, André G Uitterlinden, Albert Hofman, Joel Schwartz, Elena Colicino, Lifang Hou, Pantel S Vokonas, Dena G Hernandez, Andrew B Singleton, Stefania Bandinelli, Stephen T Turner, Erin B Ware, Alicia K Smith, Torsten Klengel, Elisabeth B Binder, Bruce M Psaty, Kent D Taylor, Sina A Gharib, Brenton R Swenson, Liming Liang, Dawn L DeMeo, George T O'Connor, Zdenko Herceg, Kerry J Ressler, Karen N Conneely, Nona Sotoodehnia, Sharon L R Kardia, David Melzer, Andrea A Baccarelli, Joyce B J van Meurs, Isabelle Romieu, Donna K Arnett, Ken K Ong, Yongmei Liu, Melanie Waldenberger, Ian J Deary, Myriam Fornage, Daniel Levy, Stephanie J London
BACKGROUND: -DNA methylation leaves a long-term signature of smoking exposure and is one potential mechanism by which tobacco exposure predisposes to adverse health outcomes, such as cancers, osteoporosis, lung, and cardiovascular disorders. METHODS AND RESULTS: -To comprehensively determine the association between cigarette smoking and DNA methylation, we conducted a meta-analysis of genome-wide DNA methylation assessed using the Illumina BeadChip 450K array on 15,907 blood derived DNA samples from participants in 16 cohorts (including 2,433 current, 6,518 former, and 6,956 never smokers)...
September 20, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27638627/the-risk-of-thromboembolism-in-users-of-antidepressants-and-antipsychotics
#18
Kasper Adelborg, Jens Sundbøll, Poul Videbech, Erik L Grove
Arterial and venous thromboembolism are common causes of morbidity and mortality in the Western world. Mental disorders are also highly prevalent with a lifetime risk of experiencing any psychiatric disease ranging between 32 % and 37 %. Depression and schizophrenia may increase the risk of thromboembolism through genetic, behavioral, and biological mechanisms. Treatment of psychiatric patients with psychotropic drugs is imperative to improve quality of life and to reduce morbidity and mortality. However, studies have shown that psychotropic drugs themselves may modify the risk of arterial and venous thromboembolism, which should be taken into consideration when using these drugs in clinical practice...
September 17, 2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27628008/proton-pump-inhibitors-in-cardiovascular-disease-drug-interactions-with-antiplatelet-drugs
#19
Morten Würtz, Erik L Grove
Aspirin and P2Y12 receptor antagonists are widely used across the spectrum of cardiovascular diseases. Upper gastrointestinal complications, including ulcer and bleeding, are relatively common during antiplatelet treatment and, therefore, concomitant proton pump inhibitor (PPI) treatment is often prescribed.PPIs provide gastroprotection by changing the intragastric milieu, essentially by raising intragastric pH. In recent years, it has been heavily discussed whether PPIs may reduce the cardiovascular protection by aspirin and, even more so, clopidogrel...
September 15, 2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27618448/meta-analysis-identifies-common-and-rare-variants-influencing-blood-pressure-and-overlapping-with-metabolic-trait-loci
#20
Chunyu Liu, Aldi T Kraja, Jennifer A Smith, Jennifer A Brody, Nora Franceschini, Joshua C Bis, Kenneth Rice, Alanna C Morrison, Yingchang Lu, Stefan Weiss, Xiuqing Guo, Walter Palmas, Lisa W Martin, Yii-Der Ida Chen, Praveen Surendran, Fotios Drenos, James P Cook, Paul L Auer, Audrey Y Chu, Ayush Giri, Wei Zhao, Johanna Jakobsdottir, Li-An Lin, Jeanette M Stafford, Najaf Amin, Hao Mei, Jie Yao, Arend Voorman, Martin G Larson, Megan L Grove, Albert V Smith, Shih-Jen Hwang, Han Chen, Tianxiao Huan, Gulum Kosova, Nathan O Stitziel, Sekar Kathiresan, Nilesh Samani, Heribert Schunkert, Panos Deloukas, Man Li, Christian Fuchsberger, Cristian Pattaro, Mathias Gorski, Charles Kooperberg, George J Papanicolaou, Jacques E Rossouw, Jessica D Faul, Sharon L R Kardia, Claude Bouchard, Leslie J Raffel, André G Uitterlinden, Oscar H Franco, Ramachandran S Vasan, Christopher J O'Donnell, Kent D Taylor, Kiang Liu, Erwin P Bottinger, Omri Gottesman, E Warwick Daw, Franco Giulianini, Santhi Ganesh, Elias Salfati, Tamara B Harris, Lenore J Launer, Marcus Dörr, Stephan B Felix, Rainer Rettig, Henry Völzke, Eric Kim, Wen-Jane Lee, I-Te Lee, Wayne H-H Sheu, Krystal S Tsosie, Digna R Velez Edwards, Yongmei Liu, Adolfo Correa, David R Weir, Uwe Völker, Paul M Ridker, Eric Boerwinkle, Vilmundur Gudnason, Alexander P Reiner, Cornelia M van Duijn, Ingrid B Borecki, Todd L Edwards, Aravinda Chakravarti, Jerome I Rotter, Bruce M Psaty, Ruth J F Loos, Myriam Fornage, Georg B Ehret, Christopher Newton-Cheh, Daniel Levy, Daniel I Chasman
Meta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726 additional individuals (total n = 327,288). These blood pressure-associated loci are enriched for known variants for cardiometabolic traits. Associations were also observed for the aggregation of rare and low-frequency missense variants in three genes, NPR1, DBH, and PTPMT1. In addition, blood pressure associations at 39 previously reported loci were confirmed...
October 2016: Nature Genetics
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