title: Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach.
abstract: Hematological traits are important health indicators and are used as diagnostic clinical parameters for human disorders. Recently, genome-wide association studies (GWAS) identified many genetic loci associated with hematological traits in diverse ethnic groups. However, additional GWAS are necessary to elucidate the breadth of genetic variation and the underlying genetic architecture represented by hematological metrics. To identify additional genetic loci influencing hematological traits (such as hematocrit, hemoglobin concentration, white blood cell count, red blood cell count, and platelet count), we conducted GWAS and meta-analyses on data from 12,509 Korean individuals grouped into population-based cohorts. Of interest is EGF, a factor plays a role in the proliferation and differentiation of hematopoietic progenitor cells. We identified a novel EGF variant, which associated with platelet count in our study (P combined = 2.44 × 10(-15)). Our study also replicated 16 genetic associations related to five hematological traits with genome-wide significance (P < 5 × 10(-8)) that were previously established in other ethnic groups. Of these, variants influencing platelet count are distributed across several genes and have pleiotropic effects in coronary artery disease and dyslipidemia. Our findings may aid in elucidating molecular mechanisms underlying not only hematopoiesis but also inflammatory and cardiovascular diseases.
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Yun Kyoung
authors.initials: YK
authors.lastname: Kim
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Ji Hee
authors.initials: JH
authors.lastname: Oh
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Mi Yeong
authors.initials: MY
authors.lastname: Hwang
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Sanghoon
authors.initials: S
authors.lastname: Moon
authors.affiliation: Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
authors.forename: Siew-Kee
authors.initials: SK
authors.lastname: Low
authors.affiliation: Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takahashi
authors.affiliation: Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Matsuda
authors.affiliation: Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Kubo
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Juyoung
authors.initials: J
authors.lastname: Lee
authors.affiliation: Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, Chungcheongbuk-do 361-951, Republic of Korea.
authors.forename: Bong-Jo
authors.initials: BJ
authors.lastname: Kim
mesh_terms: D044466:Asian People; D004815:Epidermal Growth Factor / Q000235:genetics*; D004906:Erythrocyte Count; D055106:Genome-Wide Association Study; D005838:Genotype; D006400:Hematocrit; D006801:Humans; D007958:Leukocyte Count; D010976:Platelet Count; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D056910:Republic of Korea
chemical_list: D004815:Epidermal Growth Factor