Sequencing and health data resource of children of African ancestry.

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; Sonja Fairbanks; Michelle Adams; Tesfaye B Mersha; Bahram Namjou; Michael W Pauciulo; Jeffrey R Strawn; Robert T Ammerman; Daniel Santel; John Pestian; Tracy Glauser; Cynthia A Prows; Lisa J Martin; Louis Muglia; John B Harley; Iouri Chepelev; Kenneth M Kaufman

doi:10.1016/j.gim.2025.101660

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Sequencing and health data resource of children of African ancestry.

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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.

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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, Sonja Fairbanks, Michelle Adams, Tesfaye B Mersha, Bahram Namjou, Michael W Pauciulo, Jeffrey R Strawn, Robert T Ammerman, Daniel Santel, John Pestian, Tracy Glauser, Cynthia A Prows, Lisa J Martin, Louis Muglia, John B Harley, Iouri Chepelev, Kenneth M Kaufman. 2026. Sequencing and health data resource of children of African ancestry.. https://doi.org/10.1016/j.gim.2025.101660

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Association between plasma homocysteine levels and P-wave dispersion in pediatric patients with hyperhomocysteinemia.

Characteristics of post-exercise responders versus non-responders following aerobic or isometric exercise in physically inactive adults of African and South Asian descent with high-normal blood pressure or grade I hypertension.