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Ancestry-Specific Associations Identified in Genome-Wide Combined-Phenotype Study of Red Blood Cell Traits Emphasize Benefits of Diversity in Genomics

Citation

Hodonsky, Chani J.; Baldassari, Antoine R.; Bien, Stephanie A.; Raffield, Laura M.; Highland, Heather M.; Sitlani, Colleen M.; Wojcik, Genevieve L.; Tao, Ran; Graff, Marielisa; & Tang, Weihong, et al. (2020). Ancestry-Specific Associations Identified in Genome-Wide Combined-Phenotype Study of Red Blood Cell Traits Emphasize Benefits of Diversity in Genomics. BMC Genomics, 21(1), 228. PMCID: PMC7071748

Abstract

Background: Quantitative red blood cell (RBC) traits are highly polygenic clinically relevant traits, with approximately 500 reported GWAS loci. The majority of RBC trait GWAS have been performed in European- or East Asian-ancestry populations, despite evidence that rare or ancestry-specific variation contributes substantially to RBC trait heritability. Recently developed combined-phenotype methods which leverage genetic trait correlation to improve statistical power have not yet been applied to these traits. Here we leveraged correlation of seven quantitative RBC traits in performing a combined-phenotype analysis in a multi-ethnic study population.

URL

https://doi.org/10.1186/s12864-020-6626-9

Reference Type

Journal Article

Journal Title

BMC Genomics

Author(s)

Hodonsky, Chani J.
Baldassari, Antoine R.
Bien, Stephanie A.
Raffield, Laura M.
Highland, Heather M.
Sitlani, Colleen M.
Wojcik, Genevieve L.
Tao, Ran
Graff, Marielisa
Tang, Weihong
Thyagarajan, Bharat
Buyske, Steven G.
Fornage, Myriam
Hindorff, Lucia A.
Li, Yun
Lin, Danyu
Reiner, Alex P.
North, Kari E.
Loos, Ruth J. F.
Kooperberg, Charles L.
Avery, Christy L.

Year Published

2020

Volume Number

21

Issue Number

1

Pages

228

PMCID

PMC7071748

Reference ID

12976