Sickle Cell Community

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Aug 23, 2022

The Sickle Cell Disease Community, an initiative led by St. Jude Children’s Research Hospital, shares whole genome sequencing data and clinical data with research and clinical communities. Our goal is to promote global collaborative efforts to identify genetic modifiers of sickle cell disease complications, improve clinical management for patients, and develop more effective treatments.

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Jul 26, 2021Blood AdvancesPMID 34283174

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease

Evadnie Rampersaud , Guolian Kang , Lance E Palmer , Sara R Rashkin , Shuoguo Wang , Wenjian Bi , Nicole M Alberts , Doralina Anghelescu , Martha Barton , Kirby Birch , Nidal Boulos , Amanda M Brandow , Russell John Brooke , Ti-Cheng Chang , Wenan Chen , Yong Cheng , Juan Ding , John Easton , Jason R Hodges , Celeste K Kanne , Shawn Levy , Heather Mulder , Ashwin P Patel , Latika Puri , Celeste Rosencrance , Michael Rusch , Yadav Sapkota , Edgar Sioson , Akshay Sharma , Xing Tang , Andrew Thrasher , Winfred Wang , Yu Yao , Yutaka Yasui , Donald Yergeau , Jane S Hankins , Vivien A Sheehan , James R Downing , Jeremie H Estepp , Jinghui Zhang , Michael DeBaun , Gang Wu , Mitchell J Weiss

Sep 11, 2019Nature CommunicationsPMID 31511532

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

Alexander Teumer, Yong Li , Sahar Ghasemi , Bram P Prins , Matthias Wuttke , Tobias Hermle , Ayush Giri , Karsten B Sieber , Chengxiang Qiu , Holger Kirsten , Adrienne Tin , Audrey Y Chu , Nisha Bansal , Mary F Feitosa , Lihua Wang , Jin-Fang Chai, Massimiliano Cocca , Christian Fuchsberger , Mathias Gorski , Anselm Hoppmann , Katrin Horn , Man Li , Jonathan Marten , Damia Noce , Teresa Nutile , Sanaz Sedaghat , Gardar Sveinbjornsson , Bamidele O Tayo , Peter J van der Most , Yizhe Xu , Zhi Yu , Lea Gerstner , Johan Ärnlöv , Stephan J L Bakker, Daniela Baptista , Mary L Biggs , Eric Boerwinkle , Hermann Brenner , Ralph Burkhardt , Robert J Carroll , Miao-Li Chee , Miao-Ling Chee , Mengmeng Chen , Ching-Yu Cheng , James P Cook , Josef Coresh , Tanguy Corre , John Danesh , Martin H de Borst , Alessandro De Grandi , Renée de Mutsert , Aiko P J de Vries , Frauke Degenhardt , Katalin Dittrich , Jasmin Divers , Kai-Uwe Eckardt , Georg Ehret , Karlhans Endlich , Janine F Felix , Oscar H Franco , Andre Franke , Barry I Freedman , Sandra Freitag-Wolf , Ron T Gansevoort , Vilmantas Giedraitis , Martin Gögele , Franziska Grundner-Culemann , Daniel F Gudbjartsson , Vilmundur Gudnason , Pavel Hamet , Tamara B Harris , Andrew A Hicks , Hilma Holm , Valencia Hui Xian Foo , Shih-Jen Hwang , M Arfan Ikram , Erik Ingelsson , Vincent W V Jaddoe , Johanna Jakobsdottir , Navya Shilpa Josyula , Bettina Jung , Mika Kähönen , Chiea-Chuen Khor , Wieland Kiess , Wolfgang Koenig , Antje Körner , Peter Kovacs , Holly Kramer , Bernhard K Krämer , Florian Kronenberg , Leslie A Lange , Carl D Langefeld , Jeannette Jen-Mai Lee , Terho Lehtimäki , Wolfgang Lieb , Su-Chi Lim , Lars Lind , Cecilia M Lindgren , Jianjun Liu , Markus Loeffler , Leo-Pekka Lyytikäinen , Anubha Mahajan , Joseph C Maranville , Deborah Mascalzoni , Barbara McMullen , Christa Meisinger , Thomas Meitinger , Kozeta Miliku , Dennis O Mook-Kanamori , Martina Müller-Nurasyid , Josyf C Mychaleckyj , Matthias Nauck , Kjell Nikus , Boting Ning , Raymond Noordam , Jeffrey O' Connell , Isleifur Olafsson , Nicholette D Palmer , Annette Peters , Anna I Podgornaia , Belen Ponte , Tanja Poulain , Peter P Pramstaller , Ton J Rabelink , Laura M Raffield , Dermot F Reilly , Rainer Rettig , Myriam Rheinberger , Kenneth M Rice , Fernando Rivadeneira , Heiko Runz , Kathleen A Ryan , Charumathi Sabanayagam , Kai-Uwe Saum , Ben Schöttker , Christian M Shaffer , Yuan Shi , Albert V Smith , Konstantin Strauch , Michael Stumvoll , Benjamin B Sun , Silke Szymczak , E-Shyong Tai , Nicholas Y Q Tan , Kent D Taylor , Andrej Teren , Yih-Chung Tham , Joachim Thiery , Chris H L Thio , Hauke Thomsen , Unnur Thorsteinsdottir , Anke Tönjes , Johanne Tremblay , André G Uitterlinden , Pim van der Harst , Niek Verweij , Suzanne Vogelezang , Uwe Völker , Melanie Waldenberger , Chaolong Wang , Otis D Wilson , Charlene Wong , Tien-Yin Wong , Qiong Yang , Masayuki Yasuda , Shreeram Akilesh , Murielle Bochud , Carsten A Böger , Olivier Devuyst , Todd L Edwards , Kevin Ho , Andrew P Morris , Afshin Parsa , Sarah A Pendergrass , Bruce M Psaty , Jerome I Rotter , Kari Stefansson , James G Wilson , Katalin Susztak , Harold Snieder , Iris M Heid , Markus Scholz , Adam S Butterworth , Adriana M Hung , Cristian Pattaro , Anna Köttgen

Apr 01, 2019PharmacogenomicsPMID 29620434

Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease

Ellie H Jhun , Xiaoyu Hu , Nilanjana Sadhu , Yingwei Yao , Ying He , Diana J Wilkie , Robert E Molokie , Zaijie J Wang

Nov 28, 2018Blood

Data Access and Interactive Visualization of Whole Genome Sequence of Sickle Cell Patients within the St. Jude Cloud

Lance E. Palmer, PhD, Xin Zhou, PhD, Clay McLeod, Evadnie Rampersaud, PhD, Jeremie H. Estepp, MD, Xing Tang, PhD, Jian Wang, Edgar Siosan, J. Robert Michael, Kirby Birch, Jason R Hodges, PhD MA, Martha Villavicencio, PhD, Michael Rusch, BS, Scott Newman, PhD, Heather Mulder, BS, John Easton, PhD, Keith Perry, James R. Downing, MD, Jane S. Hankins, MD MS, Gang Wu, PhD, Jinghui Zhang, Mitchell J. Weiss, MD PhD

Oct 01, 2018Experimental HematologyPMID 30031848

Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease

Nilanjana Sadhu , Ellie H Jhun , Yingwei Yao , Ying He , Robert E Molokie , Diana J Wilkie , Zaijie Jim Wang

Aug 06, 2018PharmacogenomicsPMID 30079801

Glucocorticoid receptor single nucleotide polymorphisms are associated with acute crisis pain in sickle cell disease

Ellie H Jhun , Nilanjana Sadhu , Yingwei Yao , Ying He , Robert E Molokie , Diana J Wilkie , Zaijie Jim Wang

May 24, 2018Pediatric Blood and CancerPMID 29797644

Sickle Cell Clinical Research and Intervention Program (SCCRIP): A lifespan cohort study for sickle cell disease progression from the pediatric stage into adulthood.

Jane S. Hankins, Jeremie H. Estepp, Jason R. Hodges, Martha A. Villavicencio, Leslie L. Robison, Mitchell J. Weiss, Guolian Kang, Jane E. Schreiber, Jerlym S. Porter, Sue C. Kaste, Kay L. Saving, Paulette C. Bryant, Jeffrey E. Deyo, Kerri A. Nottage, Allison A. King, Amanda M. Brandow, Jeffrey D. Lebensburger, Oyebimpe Adesina, Stella T. Chou, Babette S. Zemel, Matthew P. Smeltzer, Winfred C. Wang, James G. Gurney

Mar 12, 2018Journal of Pain ResearchPMID 29559808

Association of genetic variation in COMT gene with pain related to sickle cell disease in patients from the walk-PHaSST study

Yingze Zhang , Inna Belfer , Mehdi Nouraie , Qilu Zeng , Ruchika Goel , Yanxia Chu , Inna Krasiy , Lakshmanan Krishnamurti

Feb 21, 2018The Mediterranean Journal of Hematology and Infectious DiseasesPMID 29531649

Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia

Isabela Cristina Cordeiro Farias , Taciana Furtado Mendonça-Belmont , Andreia Soares da Silva , Kleyton Palmeira do Ó , Felipe Ferreira , Fernanda Silva Medeiros , Luydson Richardson da Silva Vasconcelos , Marcos André Cavalcanti Bezerra , Aderson da Silva Araújo , Patricia Muniz Mendes Freire de Moura, Betânia Lucena Domingues Hatzlhofer , Ana Claudia Mendonça Dos Anjos , Maria do Socorro de Mendonça Cavalcanti

Nov 24, 2016PharmacogenomicsPMID 27883292

IL1A rs1800587 associates with chronic noncrisis pain in sickle cell disease

Xiaoyu Hu, Ellie H Jhun, Yingwei Yao, Ying He, Robert E Molokie, Diana J Wilkie, and Zaijie J Wang

Sep 07, 2016PLoS OnePMID 27603703

Single Nucleotide Polymorphisms at +191 and +292 of Galectin-3 Gene (LGALS3) Related to Lower GAL-3 Serum Levels Are Associated with Frequent Respiratory Tract Infection and Vaso-Occlusive Crisis in Children with Sickle Cell Anemia

Taciana Furtado de Mendonça Belmont , Kleyton Palmeira do Ó , Andreia Soares da Silva , Kamila de Melo Vilar , Fernanda Silva Medeiros , Luydson Richardson Silva Vasconcelos 4, Ana Claudia Mendonça Dos Anjos , Betânia Lucena Domingues Hatzlhofer , Maíra Galdino da Rocha Pitta , Marcos André Cavalcanti Bezerra , Aderson da Silva Araújo , Moacyr Jesus Barreto de Melo Rego , Patrícia Moura , Maria do Socorro Mendonça Cavalcanti

Nov 01, 2014Anesthesia and AnalgesiaPMID 25102390

Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease

Ellie Jhun , Ying He, Yingwei Yao, Robert E Molokie, Diana J Wilkie, Zaijie Jim Wang

Feb 01, 2014American Journal of HematologyPMID 24136375

A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia

Inna Belfer , Victoria Youngblood, Deepika S Darbari, Zhengyuan Wang, Lena Diaw, Lita Freeman, Krupa Desai, Michael Dizon, Darlene Allen, Colin Cunnington, Keith M Channon, Jacqueline Milton, Stephen W Hartley, Vikki Nolan, Gregory J Kato, Martin H Steinberg, David Goldman, James G Taylor 6th

Dec 05, 2013The New England Journal of MedicinePMID 24206458

APOL1 risk variants, race, and progression of chronic kidney disease

Afshin Parsa , W H Linda Kao, Dawei Xie, Brad C Astor, Man Li, Chi-yuan Hsu, Harold I Feldman, Rulan S Parekh, John W Kusek, Tom H Greene, Jeffrey C Fink, Amanda H Anderson, Michael J Choi, Jackson T Wright Jr, James P Lash, Barry I Freedman, Akinlolu Ojo, Cheryl A Winkler, Dominic S Raj, Jeffrey B Kopp, Jiang He, Nancy G Jensvold, Kaixiang Tao, Michael S Lipkowitz, Lawrence J Appel; AASK Study Investigators; CRIC Study Investigators

Nov 01, 2012European Journal of HaematologyPMID 22925497

The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease

Hebah H Al-Habboubi , Najat Mahdi, Tala M Abu-Hijleh, Farah M Abu-Hijleh, Mai S Sater, Wassim Y Almawi

Aug 01, 2012Annals of HematologyPMID 22576309

Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients

Najat Mahdi , Tala M Abu-Hijleh, Farah M Abu-Hijleh, Mai S Sater, Khadija Al-Ola, Wassim Y Almawi

Nov 01, 2011British Journal of HaematologyPMID 21910715

MYH9 and APOL1 are both associated with sickle cell disease nephropathy

Allison E Ashley-Koch , Emmanuel C Okocha, Melanie E Garrett, Karen Soldano, Laura M De Castro, Jude C Jonassaint, Eugene P Orringer, James R Eckman, Marilyn J Telen

Apr 15, 2010Blood Cells, Molecules, and DiseasesPMID 20172753

Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia

T F Mendonça , M C V C Oliveira, L R S Vasconcelos, L M M B Pereira, P Moura, M A C Bezerra, M N N Santos, A S Araújo, M S M Cavalcanti

May 26, 2009Acta HaematologicaPMID 19468207

Association of the MBL2 Gene EXON1 Polymorphism and Vasoocclusive Crisis in Patients with Sickle Cell Anemia

M.C.V.C. Oliveira; T.F. Mendonça; L.R.S. Vasconcelos; P. Moura; M.A.C. Bezerra; M.N.N. Santos; A.S. Araújo; M.S.M. Cavalcanti

Jan 01, 2005Human Molecular GeneticsPMID 15537663

Genetic basis for individual variations in pain perception and the development of a chronic pain condition

Luda Diatchenko , Gary D Slade, Andrea G Nackley, Konakporn Bhalang, Asgeir Sigurdsson, Inna Belfer, David Goldman, Ke Xu, Svetlana A Shabalina, Dmitry Shagin, Mitchell B Max, Sergei S Makarov, William Maixner

Jul 04, 1991The New England Journal of MedicinePMID 1710777

Pain in sickle cell disease. Rates and risk factors

O S Platt , B D Thorington, D J Brambilla, P F Milner, W F Rosse, E Vichinsky, T R Kinney