Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Chani J HodonskyAntoine R BaldassariStephanie A BienLaura M RaffieldHeather M HighlandColleen M SitlaniGenevieve L WojcikRan TaoMarielisa GraffWeihong TangBharat ThyagarajanSteve BuyskeMyriam FornageLucia A HindorffYun LiDanyu LinAlex P ReinerKari E NorthRuth J F LoosCharles KooperbergChristy L Avery

Published in: BMC genomics (2020)

This work identified seven loci containing multiple independent association signals for RBC traits using a combined-phenotype approach, which may improve discovery in genetically correlated traits. Highly complex genetic architecture at the HBA1/2 locus was only revealed by the inclusion of African Americans and Hispanics/Latinos, underscoring the continued importance of expanding large GWAS to include ancestrally diverse populations.

Keyphrases

genome wide
red blood cell
dna methylation
copy number
genome wide association study
small molecule
single cell
gene expression
high throughput