An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.

ABSTRACT: Genomic discovery efforts for hematological traits have been successfully conducted through genome-wide association study on samples of predominantly European ancestry. We sought to conduct unbiased genetic discovery for coding variants that influence hematological traits in a Han Chinese population. A total of 5257 Han Chinese subjects from Beijing, China were included in the discovery cohort and analyzed by an Illumina ExomeChip array. Replication analyses were conducted in 3827 independent Chinese subjects. We analyzed 12 hematological traits and identified 22 exome-wide significant single-nucleotide polymorphisms (SNP)-trait associations with 15 independent SNPs. Our study provides replication for two associations previously reported but not replicated. Further, one association was ide

SUBMITTER: Sun P 

PROVIDER: S-EPMC8161516 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature