Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes

African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junctio...

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Bibliographic Details
Published in:Nature communications 2024-05, Vol.15 (1), p.3718-8, Article 3718
Main Authors: Ping, Jie, Jia, Guochong, Cai, Qiuyin, Guo, Xingyi, Tao, Ran, Ambrosone, Christine, Huo, Dezheng, Ambs, Stefan, Barnard, Mollie E., Chen, Yu, Garcia-Closas, Montserrat, Gu, Jian, Hu, Jennifer J., John, Esther M., Li, Christopher I., Nathanson, Katherine, Nemesure, Barbara, Olopade, Olufunmilayo I., Pal, Tuya, Press, Michael F., Sanderson, Maureen, Sandler, Dale P., Yoshimatsu, Toshio, Adejumo, Prisca O., Ahearn, Thomas, Brewster, Abenaa M., Hennis, Anselm J. M., Makumbi, Timothy, Ndom, Paul, O’Brien, Katie M., Olshan, Andrew F., Oluwasanu, Mojisola M., Reid, Sonya, Yao, Song, Butler, Ebonee N., Huang, Maosheng, Ntekim, Atara, Li, Bingshan, Troester, Melissa A., Palmer, Julie R., Haiman, Christopher A., Long, Jirong, Zheng, Wei
Format: Article
Language:English
Subjects:
3' Untranslated regions
38/91
631/208/205
692/308/174
692/699/67/1347
Adult
Aged
Black or African American
Black People - genetics
Breast cancer
Breast Neoplasms - genetics
Case-Control Studies
Estrogen receptors
Estrogens
Female
Females
Gene expression
Gene Expression Profiling
Gene Expression Regulation, Neoplastic
Genes
Genetic Predisposition to Disease
Genetics
Genome-Wide Association Study
Genomics
Health risks
Humanities and Social Sciences
Humans
Middle Aged
multidisciplinary
Polyadenylation
Polymorphism, Single Nucleotide
Receptors, Estrogen - genetics
Receptors, Estrogen - metabolism
Risk
Science
Science (multidisciplinary)
Transcriptome
Transcriptomes
Transcriptomics
United States
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Description
Summary:African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3′ UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls. At Bonferroni-corrected P  
ISSN:2041-1723
2041-1723
DOI:10.1038/s41467-024-47650-5