Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry
Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry
复制标题
DOI：
10.1038/s41408-018-0132-1
复制
发表时间：
2018-10-10
影响因子：
12.8
通讯作者：
Rajkumar, S. Vincent
中科院分区：
文献类型：
--
作者：
Baughn, Linda B.;Pearce, Kathryn;Rajkumar, S. Vincent
多发性骨髓瘤（MM）在非洲裔美国人（AAs）中的发病率是欧洲裔美国人（EAs）的2 - 3倍。这种惊人的差异是所有癌症中最高的之一，可能是由于这些群体之间潜在的遗传易感性。MM有多种独特的细胞遗传学亚型，差异可能仅与某些亚型相关。以前理解这种差异的努力依赖于自我报告的种族，而不是遗传祖先，这可能会导致偏见。为了减轻这些困难，我们研究了881例单克隆丙种球蛋白病患者，他们接受了统一的检测以确定原发性细胞遗传学异常。在精准医学研究阵列上对来自骨髓样本的DNA进行基因分型，并使用地理群体结构起源工具定量评估地理祖先。与235名非洲血统最低的个体相比，120名非洲血统最高的个体（>= 80%）具有t（11;14）、t（14;16）或t（14;20）三种特定亚型之一的概率显著更高。
Multiple myeloma (MM) is two- to three-fold more common in African Americans (AAs) compared to European Americans (EAs). This striking disparity, one of the highest of any cancer, may be due to underlying genetic predisposition between these groups. There are multiple unique cytogenetic subtypes of MM, and it is likely that the disparity is associated with only certain subtypes. Previous efforts to understand this disparity have relied on self-reported race rather than genetic ancestry, which may result in bias. To mitigate these difficulties, we studied 881 patients with monoclonal gammopathies who had undergone uniform testing to identify primary cytogenetic abnormalities. DNA from bone marrow samples was genotyped on the Precision Medicine Research Array and biogeographical ancestry was quantitatively assessed using the Geographic Population Structure Origins tool. The probability of having one of three specific subtypes, namely t(11;14), t(14;16), or t(14;20) was significantly higher in the 120 individuals with highest African ancestry (>= 80%) compared with the 235 individuals with lowest African ancestry (