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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >Angiotensinogen M235T Gene Polymorphism is a Genetic Determinant of Cerebrovascular and Cardiopulmonary Morbidity in Adolescents with Sickle Cell Disease
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Angiotensinogen M235T Gene Polymorphism is a Genetic Determinant of Cerebrovascular and Cardiopulmonary Morbidity in Adolescents with Sickle Cell Disease

机译：血管紧张素M235T基因多态性是镰状细胞病患者脑血管和心肺发病率的遗传决定因素

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Background: Cerebrovascular stroke is a common critical complication of sickle cell disease (SCD). Angiotensinogen (AGT) M235T gene polymorphism is associated with risk of ischemic stroke and cardiovascular disease. Aim: We investigated the potential association between angiotensinogen M235T gene polymorphism and susceptibility to cerebrovascular and cardiopulmonary complications in adolescents with SCD. Methods: Forty-six patients with SCD in steady state were studied stressing on history of stroke, hydroxyurea/chelation therapy, hematological profile, and echocardiographic findings. Polymerase chain reaction-based restriction fragment length polymorphism analysis was used to detect AGT M235T gene polymorphism. Fifty sex- and age-matched healthy controls were enrolled for assessment of M235T gene polymorphism pattern. Results: The distribution of AGT M235T gene polymorphism was similar between SCD patients and healthy controls. The frequency of T allele of AGT M235T gene polymorphism (TT and MT genotypes) was significantly higher among patients with history of manifest stroke (P .001). Patients with TT and MT genotypes had higher incidence of cardiopulmonary complications (P = .041) as well as higher percentage of HbS (P .001) and lower hemoglobin level (P = .008) compared with those with MM genotype. Serum ferritin, liver iron concentration, and cardiac T2* were not related to T alleles or genotypes. Logistic regression analysis revealed that M235T genotype was a significant independent factor related to the occurrence of stroke among patients with SCD (Odds Ratio 14.05, 95% confidence interval 3.82-28.91; P = .001). Conclusion: AGT M235T gene polymorphism may represent a genetic modifier to vascular morbidities in Egyptian patients with SCD.
机译：背景：脑血管卒中是镰状细胞疾病（SCD）的常见关键并发症。血管紧张素（AGT）M235T基因多态性与缺血性卒中和心血管疾病的风险有关。目的：我们研究了SCD中青少年血管生成M235T基因多态性和对脑血管和心肺并发症的脑血管和心肺并发症之间的潜在关联。方法：研究了稳定状态的四十六名SCD患者，强调卒中史，羟基脲/螯合疗法，血液学剖面和超声心动图发现。基于聚合酶链反应的限制性片段长度多态性分析检测AGT M235T基因多态性。征集50名性别和年龄匹配的健康对照，用于评估M235T基因多态性模式。结果：SCD患者和健康对照等AGT M235T基因多态性的分布。表现中风历史（P＆LT; .001）患者，AGT M235T基因多态性（TT和MT基因型）的T等位基因的频率显着较高。与MM基因型的人相比，TT和MT基因型的患者具有更高的心肺并发症（P = .041）以及更高的HBS（P = .008）的HBS（P = .008）。血清铁蛋白，肝脏浓度和心脏T2 *与T等位基因或基因型无关。 Logistic回归分析显示，M235T基因型是与SCD患者患者中风发生有关的重要独立因素（赔率比14.05,95％置信区间3.82-28.91; p = .001）。结论：AGT M235T基因多态性可以代表埃及SCD患者血管病理的遗传改性剂。

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