ACE I/D polymorphism is not a genetic modifier of renal features in sickle cell anemia patients

L. Bhaskar, S. Pattnaik
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Abstract

Introduction: Sickle cell anemia (SCA) exhibits a host of complications that contribute to increased morbidity and mortality at the youngest ages. Objectives: The aim of this investigation is to look into the association between ACE I/D polymorphism and renal function in Indian patients with SCA. Patients and Methods: About 190 SCA patients confirmed by hemoglobin (Hb) electrophoresis were selected for this study. The severity of the disease was determined using anemia, clinical complications, total white blood cells count, and scores of blood transfusion. To define different renal function phases, estimated glomerular filtration rate (eGFR) was computed in adults and children using the CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) and Schwartz equations respectively. The ACE I/D polymorphism was conducted using polymerase chain reaction (PCR) and separation through agarose electrophoresis. Results: The risk of impaired renal function was not statistically distinct between ACE I/D genotypes and alleles. Further, the genotypes of ACE I/D and the risk of disease severity was not found to be associated with each other. Conclusion: This investigation found that ACE I/D is an insignificant genetic modifier of renal function or severity of disease in patients with SCA.
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ACE I/D多态性不是镰状细胞性贫血患者肾脏特征的遗传修饰因子
简介:镰状细胞性贫血(SCA)表现出一系列并发症,这些并发症在最年轻的年龄导致发病率和死亡率增加。目的:本研究的目的是探讨ACE I/D多态性与印度SCA患者肾功能之间的关系。患者和方法:选择血红蛋白(Hb)电泳证实的SCA患者约190例。疾病的严重程度是通过贫血、临床并发症、白细胞总数和输血次数来确定的。为了定义不同的肾功能阶段,分别使用CKD-EPI(慢性肾脏疾病流行病学合作)和Schwartz方程计算成人和儿童的肾小球滤过率(eGFR)。采用聚合酶链反应(PCR)和琼脂糖电泳分离检测ACE I/D多态性。结果:ACE I/D基因型与等位基因间肾功能损害风险无统计学差异。此外,ACE I/D基因型与疾病严重程度风险之间没有相关性。结论:本研究发现ACE I/D是SCA患者肾功能或病情严重程度的不显著基因修饰因子。
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