Endothelial Nitric Oxide Synthase (-786T>C) and Endothelin-1 (5665G>T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia.

Gene regulation and systems biology Pub Date : 2016-07-28 eCollection Date: 2016-01-01 DOI:10.4137/GRSB.S38276
Wendell Vilas-Boas, Camylla V B Figueiredo, Thassila N Pitanga, Magda O S Carvalho, Rayra P Santiago, Sânzio S Santana, Caroline C Guarda, Angela M D Zanette, Bruno A V Cerqueira, Marilda S Gonçalves
{"title":"Endothelial Nitric Oxide Synthase (-786T>C) and Endothelin-1 (5665G>T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia.","authors":"Wendell Vilas-Boas,&nbsp;Camylla V B Figueiredo,&nbsp;Thassila N Pitanga,&nbsp;Magda O S Carvalho,&nbsp;Rayra P Santiago,&nbsp;Sânzio S Santana,&nbsp;Caroline C Guarda,&nbsp;Angela M D Zanette,&nbsp;Bruno A V Cerqueira,&nbsp;Marilda S Gonçalves","doi":"10.4137/GRSB.S38276","DOIUrl":null,"url":null,"abstract":"<p><p>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. </p>","PeriodicalId":73138,"journal":{"name":"Gene regulation and systems biology","volume":"10 ","pages":"67-72"},"PeriodicalIF":0.0000,"publicationDate":"2016-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4137/GRSB.S38276","citationCount":"9","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene regulation and systems biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4137/GRSB.S38276","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2016/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 9

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.

Abstract Image

Abstract Image

Abstract Image

内皮型一氧化氮合酶(-786T>C)和内皮素-1 (5665G>T)基因多态性与镰状细胞性贫血血管功能障碍的关系
镰状细胞性贫血(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和一氧化氮紊乱有关。我们研究ET-1 5665G>T和eNOS -786T>C多态性与可溶性粘附分子(sVCAM-1和sICAM-1)、生化标志物和病史的关系。我们研究了101名SCA患者;eNOS小等位基因(C)携带者sVCAM-1水平最高,ET-1小等位基因携带者急性胸综合征(ACS)发生率较高。多因素分析提示ET-1基因对ACS预后有影响,eNOS基因与上呼吸道感染有关联。我们认为eNOS和ET-1基因多态性可以影响SCA的病理生理,并且SCA患者的eNOS变异可能对一氧化氮活性和血管改变很重要。我们发现ET-1小等位基因在ACS中存在关联,表明遗传筛查在SCA中的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信