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常见的α-珠蛋白变异可改变镰状细胞特征和疾病的血液学和其他临床表型。

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

机构信息

Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America.

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

出版信息

PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.

Abstract

Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancestral α-thalassemia mutation (-α3.7 deletion) and β-globin traits (HbS trait [SCT] and HbC trait) on important clinical phenotypes such as red blood cell parameters, anemia, and chronic kidney disease (CKD). In a community-based cohort of 2,916 African Americans from the Jackson Heart Study, we confirmed the expected associations between SCT, HbC trait, and the -α3.7 deletion with lower mean corpuscular volume/mean corpuscular hemoglobin and higher red blood cell count and red cell distribution width. In addition to the recently recognized association of SCT with lower estimated glomerular filtration rate and glycated hemoglobin (HbA1c), we observed a novel association of the -α3.7 deletion with higher HbA1c levels. Co-inheritance of each additional copy of the -α3.7 deletion significantly lowered the risk of anemia and chronic kidney disease among individuals with SCT (P-interaction = 0.031 and 0.019, respectively). Furthermore, co-inheritance of a novel α-globin regulatory variant was associated with normalization of red cell parameters in individuals with the -α3.7 deletion and significantly negated the protective effect of α-thalassemia on stroke in 1,139 patients with sickle cell anemia from the Cooperative Study of Sickle Cell Disease (CSSCD) (P-interaction = 0.0049). Functional assays determined that rs11865131, located in the major alpha-globin enhancer MCS-R2, was the most likely causal variant. These findings suggest that common α- and β-globin variants interact to influence hematologic and clinical phenotypes in African Americans, with potential implications for risk-stratification and counseling of individuals with SCD and SCT.

摘要

α-地中海贫血的共遗传对镰状细胞病 (SCD) 并发症的严重程度有显著的保护作用,包括中风。然而,关于常见的非洲祖先 α-地中海贫血突变(-α3.7 缺失)和 β-珠蛋白特征(HbS 特征 [SCT] 和 HbC 特征)与重要的临床表型(如红细胞参数、贫血和慢性肾脏病 [CKD])之间的关联和相互作用的信息很少。在杰克逊心脏研究的一个基于社区的 2916 名非裔美国人队列中,我们证实了 SCT、HbC 特征和 -α3.7 缺失与较低的平均红细胞体积/平均红细胞血红蛋白和较高的红细胞计数和红细胞分布宽度之间的预期关联。除了最近发现的 SCT 与较低的估计肾小球滤过率和糖化血红蛋白(HbA1c)相关外,我们还观察到 -α3.7 缺失与较高的 HbA1c 水平之间存在新的关联。在 SCT 个体中,每增加一个 -α3.7 缺失拷贝,贫血和慢性肾脏病的风险显著降低(P 交互=0.031 和 0.019)。此外,一种新的α-珠蛋白调节变体的共遗传与 -α3.7 缺失个体中红细胞参数的正常化相关,并在来自镰状细胞贫血合作研究(CSSCD)的 1139 名镰状细胞贫血患者中显著否定了α-地中海贫血对中风的保护作用(P 交互=0.0049)。功能测定确定位于主要α-珠蛋白增强子 MCS-R2 中的 rs11865131 是最可能的因果变体。这些发现表明,常见的α-和β-珠蛋白变体相互作用,影响非裔美国人的血液学和临床表型,这可能对 SCD 和 SCT 个体的风险分层和咨询有影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7272/5891078/662a138d58cf/pgen.1007293.g001.jpg

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