Vilas-Boas Wendell, Figueiredo Camylla V B, Pitanga Thassila N, Carvalho Magda O S, Santiago Rayra P, Santana Sânzio S, Guarda Caroline C, Zanette Angela M D, Cerqueira Bruno A V, Gonçalves Marilda S
Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, FIOCRUZ, Salvador, Brasil.
Fundação de Hematologia e Hemoterapia da Bahia, Salvador, Brasil.
Gene Regul Syst Bio. 2016 Jul 28;10:67-72. doi: 10.4137/GRSB.S38276. eCollection 2016.
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.
镰状细胞贫血（SCA）患者存在血管并发症，内皮素-1（ET-1）和内皮型一氧化氮合酶（eNOS）基因多态性与ET-1及一氧化氮紊乱相关。我们研究了ET-1 5665G>T和eNOS -786T>C基因多态性与可溶性黏附分子（sVCAM-1和sICAM-1）、生化标志物及病史之间的关联。我们对101例SCA患者进行了研究；eNOS次要等位基因（C）携带者的sVCAM-1水平最高，ET-1次要等位基因携带者急性胸综合征（ACS）的发生率更高。多因素分析提示ET-1基因对ACS结局有影响，且eNOS基因与上呼吸道感染有关联。我们认为eNOS和ET-1基因多态性可影响SCA的病理生理过程，SCA患者中的eNOS变异可能对一氧化氮活性和血管改变具有重要意义。我们发现ACS中ET-1次要等位基因存在关联，这表明SCA基因筛查的重要性。
