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镰状细胞性状与黑人患终末期肾病的风险

Sickle Cell Trait and the Risk of ESRD in Blacks.

作者信息

Naik Rakhi P, Irvin Marguerite R, Judd Suzanne, Gutiérrez Orlando M, Zakai Neil A, Derebail Vimal K, Peralta Carmen, Lewis Michael R, Zhi Degui, Arnett Donna, McClellan William, Wilson James G, Reiner Alexander P, Kopp Jeffrey B, Winkler Cheryl A, Cushman Mary

机构信息

Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;

Departments of Medicine and Epidemiology, University of Alabama at Birmingham, Birmingham, Alabama.

出版信息

J Am Soc Nephrol. 2017 Jul;28(7):2180-2187. doi: 10.1681/ASN.2016101086. Epub 2017 Mar 9.

Abstract

Blacks, compared with whites, have an increased risk of progression to end-stage renal disease (ESRD). Emerging evidence suggests that, in addition to high-risk genotypes, hemoglobin variants, including sickle cell trait (SCT) and hemoglobin C trait, have a role in kidney disease in blacks. However, the association between these hemoglobin traits and ESRD remains unknown. In a large population-based cohort, the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, we evaluated 9909 self-reported blacks (739 with SCT and 243 with hemoglobin C trait). Incident ESRD occurred in 40 of 739 (5.4%) individuals with SCT, six of 243 (2.5%) individuals with hemoglobin C trait, and 234 of 8927 (2.6%) noncarriers. The incidence rate for ESRD was 8.5 per 1000 person-years for participants with SCT and 4.0 per 1000 person-years for noncarriers. Compared with individuals without SCT, individuals with SCT had a hazard ratio for ESRD of 2.03 (95% confidence interval, 1.44 to 2.84). Hemoglobin C trait did not associate with prevalent CKD or ESRD. The incidence rate for ESRD among participants with high-risk genotypes was 6.6 per 1000 person-years, with a hazard ratio for ESRD of 1.77 (95% confidence interval, 1.31 to 2.38) for participants with, compared with those without, high-risk genotypes. In this cohort, SCT strongly associated with risk of progression to ESRD in blacks, and this degree of risk for ESRD was similar to that conferred by high-risk genotypes. These results may have important public policy implications for genetic counseling of SCT carriers.

摘要

与白人相比,黑人进展为终末期肾病(ESRD)的风险更高。新出现的证据表明,除了高风险基因型外,血红蛋白变异体,包括镰状细胞性状(SCT)和血红蛋白C性状,在黑人肾脏疾病中也起作用。然而,这些血红蛋白性状与ESRD之间的关联仍不清楚。在一项基于人群的大型队列研究——中风地理和种族差异原因(REGARDS)研究中,我们评估了9909名自我报告为黑人的个体(739名患有SCT,243名患有血红蛋白C性状)。739名患有SCT的个体中有40名(5.4%)发生了ESRD,243名患有血红蛋白C性状的个体中有6名(2.5%)发生了ESRD,8927名非携带者中有234名(2.6%)发生了ESRD。患有SCT的参与者ESRD发病率为每1000人年8.5例,非携带者为每1000人年4.0例。与没有SCT的个体相比,患有SCT的个体发生ESRD的风险比为2.03(95%置信区间,1.44至2.84)。血红蛋白C性状与慢性肾脏病(CKD)或ESRD的患病率无关。高风险基因型参与者的ESRD发病率为每1000人年6.6例,与没有高风险基因型的参与者相比,有高风险基因型的参与者发生ESRD的风险比为1.77(95%置信区间,1.31至2.38)。在这个队列中,SCT与黑人进展为ESRD的风险密切相关,这种ESRD风险程度与高风险基因型所带来的风险相似。这些结果可能对SCT携带者的遗传咨询具有重要的公共政策意义。

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