Sequencing and health data resource of children of African ancestry

IF 6.2 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2026-03-01 Epub Date: 2026-03-04 DOI:10.1016/j.gim.2025.101660

Leah C. Kottyan , Scott Richards , Morgan E. Tracy , Lucinda P. Lawson , Isabelle C. Kottyan , Annika Curwin , Beth Cobb , Steve Esslinger , Margaret Gerwe , James Morgan , Alka Chandel , Leksi Travitz , Yongbo Huang , Catherine Black , Agboade Sobowale , Tinuke Akintobi , Monica J. Mitchell , Andrew F. Beck , Ndidi Unaka , Michael Seid , Kenneth M. Kaufman

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引用次数: 0

Abstract

Purpose

Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this gap, Cincinnati Children’s Hospital Medical Center (CCHMC) established a biorepository and developed a comprehensive DNA sequencing resource including 15,684 individuals who self-identified as African American or Black and received care at CCHMC.

Methods

Participants were enrolled through the CCHMC Discover Together Biobank and sequenced. Admixture analyses confirmed the genetic ancestry of the cohort, which was then linked to electronic medical records.

Results

Genome-wide genotypes from common variants accompanied by medical record-sourced data are available through the Genomic Information Commons. This data set performs well in genetic studies. Specifically, we replicated known associations in sickle-cell disorder (HBB, HGNC:4827, P = 4.05 × 10^-148), anxiety (PLAAT3, HGNC:17825, P = 6.93 × 10^-9), and asthma (PCDH15, HGNC:14674, P = 5.6 × 10^-10), while also identifying novel loci associated with anxiety, asthma, and asthma severity.

Conclusion

We present the acquisition and quality of genetic and disease-associated data and present an analytical framework for using this resource. In partnership with a community advisory council, we have codeveloped a valuable framework for data use and future research.

Abstract Image

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非洲血统儿童的测序和健康数据资源。

目的：在疾病风险的全基因组研究中，自我报告为黑人或非裔美国人的个体历史上代表性不足，这种差异在儿科疾病研究中尤为明显。为了解决这一差距，辛辛那提儿童医院医疗中心（CCHMC）建立了一个生物库，并开发了一个全面的DNA测序资源，其中包括15,684名自我认定为非裔美国人或黑人并在CCHMC接受治疗的个体。方法：通过CCHMC Discover Together生物库招募参与者并进行测序。混合分析证实了该队列的遗传血统，然后将其与电子医疗记录联系起来。结果：来自常见变异的全基因组基因型以及病历来源的数据可通过基因组信息共享网站获得。该数据集在遗传研究中表现良好。具体来说，我们复制了镰状细胞疾病（HBB, HGNC:4827, P = 4.05 × 10-148）、焦虑（PLAAT3, HGNC:17825, P = 6.93 × 10-9）和哮喘（PCDH15, HGNC:14674, P = 5.6 × 10-10）的已知关联，同时也发现了与焦虑、哮喘和哮喘严重程度相关的新基因座。结论：我们提出了遗传和疾病相关数据的获取和质量，并提出了使用该资源的分析框架。我们与一个社区咨询委员会合作，共同开发了一个有价值的数据使用和未来研究框架。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.