Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture

Autor: Linda Kachuri, Angel C. Y. Mak, Donglei Hu, Celeste Eng, Scott Huntsman, Jennifer R. Elhawary, Namrata Gupta, Stacey Gabriel, Shujie Xiao, Kevin L. Keys, Akinyemi Oni-Orisan, José R. Rodríguez-Santana, Michael A. LeNoir, Luisa N. Borrell, Noah A. Zaitlen, L. Keoki Williams, Christopher R. Gignoux, Esteban González Burchard, Elad Ziv
Rok vydání: 2023
Předmět:
Zdroj: Nature Genetics.
ISSN: 1546-1718
1061-4036
Popis: We explored the role of genetic ancestry in shaping the genetic architecture of whole blood gene expression using whole genome and RNA sequencing data from 2,733 African American and Hispanic/Latino children. We find that heritability of gene expression significantly increases with greater proportion of genome-wide African ancestry and decreases with higher levels of Indigenous American ancestry. Fine-mapping of expression quantitative trait loci (eQTLs) in individuals with predominantly African or Indigenous American ancestry revealed ancestry-specific eQTLs in over 30% of heritable genes. We leveraged our data to train genetically derived transcriptome prediction models, which identified significantly more associated genes than GTEx or MESA models when applied to 28 traits from a multi-ancestry population. Our findings underscore the importance of increasing representation from ancestrally diverse populations in genomic studies to enable new discoveries and ensure their equitable translation.
{"references":["Kachuri L, Mak ACY, Hu D et al. (2022) Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture. bioRxiv. doi:10.1101/2021.08.19.456901"]}
Databáze: OpenAIRE
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