Damotte Vincent, Zhao Chao, Lin Chris, Williams Eric, Louzoun Yoram, Madbouly Abeer, Kotlarz Rochelle, McDaniel Marissa, Norman Paul J, Wang Yong, Maiers Martin, Hollenbach Jill A
UCSF Weill Institute for Neurosciences, Department of Neurology, University of California, San Francisco, CA, USA.
Department of Computer Science, University of Washington, Seattle, WA, USA.
Commun Med (Lond). 2024 Oct 3;4(1):189. doi: 10.1038/s43856-024-00620-w.
Questions persist around whether and how to use race or geographic ancestry in biomedical research and medicine, but these forms of self-identification serve as a critical tool to inform matching algorithms for human leukocyte antigen (HLA) of varying levels of resolution for unrelated hematopoietic stem cell transplant in large donor registries.
Here, we examined multiple self-reported measures of race and ancestry from a survey of a cohort of over 100,000 U.S. volunteer bone marrow donors alongside their high-resolution HLA genotype data.
We find that these self-report measures are often non-overlapping, and that no single self-reported measure alone provides a better fit to HLA genetic ancestry than a combination including both race and geographic ancestry. We also found that patterns of reporting for race and ancestry appear to be influenced by participation in direct-to-consumer genetic ancestry testing.
While these data are not used directly in matching for transplant, our results demonstrate that there is a place for the language of both race and geographic ancestry in the critical process of facilitating accurate prediction of HLA in the donor registry context.
围绕在生物医学研究和医学中是否以及如何使用种族或地理血统存在诸多问题,但这些自我识别形式是为大型供体登记处中无关造血干细胞移植的不同分辨率水平的人类白细胞抗原(HLA)匹配算法提供信息的关键工具。
在此,我们研究了对超过10万名美国志愿骨髓供体队列进行的一项调查中多种自我报告的种族和血统测量方法,并将其与他们的高分辨率HLA基因型数据进行对比。
我们发现这些自我报告测量方法往往互不重叠,而且没有任何单一的自我报告测量方法比包括种族和地理血统两者的组合更能契合HLA遗传血统。我们还发现种族和血统的报告模式似乎受到参与直接面向消费者的遗传血统检测的影响。
虽然这些数据并非直接用于移植匹配,但我们的结果表明,在供体登记处背景下促进对HLA进行准确预测的关键过程中,种族和地理血统的表述都有其作用。