John P. Hussman Institute for Human Genomics, University of Miami.
Department of Neurology, Epidemiology and Public Health, Miller School of Medicine, University of Miami; Department of Systems Medicine, School of Medicine, University of Rome 'Tor Vergata', Rome; IRCCS, San Raffaele Pisana, Rome.
Ethn Dis. 2017 Jan 19;27(1):11-14. doi: 10.18865/ed.27.1.11.
Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. It is caused by homozygosity for a genetic mutation in HBB; rs334. While the presence of a single mutation (sickle cell trait, SCT) has long been considered a benign trait, recent research suggests that SCT is associated with renal dysfunction, including a decrease in estimated glomerular filtration rate (eGFR) and increased risk of chronic kidney disease (CKD) in African Americans. It is currently unknown whether similar associations are observed in Hispanics. Therefore, our study aimed to determine if SCT is associated with mean eGFR and CKD in a sample of 340 Dominican Hispanics from the Northern Manhattan Study. Using regression analyses, we tested rs334 for association with eGFR and CKD, adjusting for age and sex. eGFR was estimated using the Chronic Kidney Disease Epidemiology Collaboration equation and CKD was defined as eGFR < 60 mL/min/1.73 m. Within our sample, there were 16 individuals with SCT (SCT carriers). We found that SCT carriers had a mean eGFR that was 12.12 mL/min/1.73m lower than non-carriers (P=.002). Additionally, SCT carriers had 2.72 times higher odds of CKD compared with non-carriers (P=.09). Taken together, these novel results show that Hispanics with SCT, as found among African Americans with SCT, may also be at increased risk for kidney disease.
镰状细胞贫血症 (SCA) 是美国非洲裔人群中常见的血液系统疾病；该疾病导致异常血红蛋白的产生。它是由 HBB 基因中的一个基因突变纯合引起的；rs334。虽然单个突变（镰状细胞特征，SCT）长期以来被认为是一种良性特征，但最近的研究表明，SCT 与肾功能障碍有关，包括非洲裔美国人的估计肾小球滤过率 (eGFR) 降低和慢性肾脏病 (CKD) 风险增加。目前尚不清楚这种关联是否在西班牙裔人群中观察到。因此，我们的研究旨在确定 340 名来自北方曼哈顿研究的多米尼加西班牙裔人中，SCT 是否与平均 eGFR 和 CKD 相关。我们使用回归分析，通过调整年龄和性别，测试了 rs334 与 eGFR 和 CKD 的关联。eGFR 使用慢性肾脏病流行病学合作组方程估计，CKD 定义为 eGFR < 60 mL/min/1.73 m。在我们的样本中，有 16 名个体携带 SCT（SCT 携带者）。我们发现 SCT 携带者的平均 eGFR 比非携带者低 12.12 mL/min/1.73 m（P=.002）。此外，与非携带者相比，SCT 携带者患 CKD 的几率高 2.72 倍（P=.09）。综上所述，这些新的结果表明，与非洲裔美国人中的 SCT 一样，西班牙裔人群中的 SCT 可能也会增加患肾脏病的风险。
