Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.

ABSTRACT: Genetic variants affecting hematopoiesis can influence commonly measured blood cell traits. To identify factors that affect hematopoiesis, we performed association studies for blood cell traits in the population-based Estonian Biobank using high-coverage whole-genome sequencing (WGS) in 2,284 samples and SNP genotyping in an additional 14,904 samples. Using up to 7,134 samples with available phenotype data, our analyses identified 17 associations across 14 blood cell traits. Integration of WGS-based fine-mapping and complementary epigenomic datasets provided evidence for causal mechanisms at several loci, including at a previously undiscovered basophil count-associated locus near the master hematopoietic transcription factor CEBPA The fine-mapped variant at this basophil count association

SUBMITTER: Guo MH 

PROVIDER: S-EPMC5255587 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature