Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients

Author:

Galarneau Geneviève12,Coady Sean3,Garrett Melanie E.4,Jeffries Neal3,Puggal Mona3,Paltoo Dina3,Soldano Karen4,Guasch Antonio5,Ashley-Koch Allison E.4,Telen Marilyn J.6,Kutlar Abdullah7,Lettre Guillaume12,Papanicolaou George J.3

Affiliation:

1. Montreal Heart Institute, Montreal, Quebec, Canada;

2. Université de Montréal, Montreal, Quebec, Canada;

3. National Heart, Lung, and Blood Institute, Division of Cardiovascular Sciences, Bethesda, MD;

4. Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC;

5. Emory University, Atlanta, GA;

6. Division of Hematology, Department of Medicine, Duke University Medical Center, Durham, NC; and

7. Department of Medicine, Sickle Cell Center, Medical College of Georgia, Augusta, GA

Abstract

Key Points Using genome-wide association study, we found the first replicated genetic association with acute chest syndrome in sickle cell disease patients. The locus identified includes COMMD7, a gene highly expressed in the lung that interacts with NFκB to control inflammatory responses.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference50 articles.

1. The inherited diseases of hemoglobin are an emerging global health burden.;Weatherall;Blood,2010

2. Inherited haemoglobin disorders: an increasing global health problem.;Weatherall;Bull World Health Organ,2001

3. Pathogenesis and treatment of sickle cell disease.;Bunn;N Engl J Med,1997

4. Natural history and determinants of clinical severity of sickle cell disease.;Serjeant;Curr Opin Hematol,1995

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