title: Endothelial Nitric Oxide Synthase (-786T>C) and Endothelin-1 (5665G>T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia.
abstract: Sickle cell anemia (SCA) patients have vascular complications, and polymorphisms in endothelin-1 (ET-1) and endothelial nitric oxide synthase (eNOS) genes were associated with ET-1 and nitric oxide disturbance. We investigate the association of ET-1 5665G>T and eNOS -786T>C polymorphisms with soluble adhesion molecules (sVCAM-1 and sICAM-1), biochemical markers, and medical history. We studied 101 SCA patients; carriers of eNOS minor allele (C) had the highest levels of sVCAM-1, and carriers of ET-1 minor allele had more occurrence of acute chest syndrome (ACS). The multivariate analysis suggested the influence of the ET-1 gene on ACS outcome and an association of the eNOS gene with upper respiratory tract infection. We suggest that eNOS and ET-1 gene polymorphisms can influence SCA pathophysiology and that eNOS variant in SCA patients might be important to nitric oxide activity and vascular alteration. We found an association of the ET-1 minor allele in ACS, showing the importance of genetic screening in SCA.
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Wendell
authors.initials: W
authors.lastname: Vilas-Boas
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Camylla V B
authors.initials: CV
authors.lastname: Figueiredo
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Thassila N
authors.initials: TN
authors.lastname: Pitanga
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Magda O S
authors.initials: MO
authors.lastname: Carvalho
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Rayra P
authors.initials: RP
authors.lastname: Santiago
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Sânzio S
authors.initials: SS
authors.lastname: Santana
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
authors.forename: Caroline C
authors.initials: CC
authors.lastname: Guarda
authors.affiliation: Fundação de Hematologia e Hemoterapia da Bahia, Salvador, Brasil.
authors.forename: Angela M D
authors.initials: AM
authors.lastname: Zanette
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.; Universidade do Estado da Bahia, Salvador, Brasil.
authors.forename: Bruno A V
authors.initials: BA
authors.lastname: Cerqueira
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.; Departamento de Analises Clínicas e Toxicologicas, Faculdade de Farmácia, Universidade Federal da Bahia, Salvador, Brasil.
authors.forename: Marilda S
authors.initials: MS
authors.lastname: Gonçalves
keywords: eNOS; entothelin-1; gene polymorphisms; sickle cell anemia