title: A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
abstract: To identify genetic factors influencing quantitative traits of biomedical importance, we conducted a genome-wide association study in 8,842 samples from population-based cohorts recruited in Korea. For height and body mass index, most variants detected overlapped those reported in European samples. For the other traits examined, replication of promising GWAS signals in 7,861 independent Korean samples identified six previously unknown loci. For pulse rate, signals reaching genome-wide significance mapped to chromosomes 1q32 (rs12731740, P = 2.9 x 10(-9)) and 6q22 (rs12110693, P = 1.6 x 10(-9)), with the latter approximately 400 kb from the coding sequence of GJA1. For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the ATP2B1 gene (rs17249754, P = 1.3 x 10(-7)). For waist-hip ratio, variants on chromosome 12q24 (rs2074356, P = 7.8 x 10(-12)) showed convincing associations, although no regional transcript has strong biological candidacy. Finally, we identified two loci influencing bone mineral density at multiple sites. On chromosome 7q31, rs7776725 (within the FAM3C gene) was associated with bone density at the radius (P = 1.0 x 10(-11)), tibia (P = 1.6 x 10(-6)) and heel (P = 1.9 x 10(-10)). On chromosome 7p14, rs1721400 (mapping close to SFRP4, a frizzled protein gene) showed consistent associations at the same three sites (P = 2.2 x 10(-3), P = 1.4 x 10(-7) and P = 6.0 x 10(-4), respectively). This large-scale GWA analysis of well-characterized Korean population-based samples highlights previously unknown biological pathways.
authors.affiliation: Center for Genome Science, National Institute of Health, Seoul, Korea.
authors.forename: Yoon Shin
authors.initials: YS
authors.lastname: Cho
authors.forename: Min Jin
authors.initials: MJ
authors.lastname: Go
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Jee Yeon
authors.initials: JY
authors.lastname: Heo
authors.forename: Ji Hee
authors.initials: JH
authors.lastname: Oh
authors.forename: Hyo-Jeong
authors.initials: HJ
authors.lastname: Ban
authors.forename: Dankyu
authors.initials: D
authors.lastname: Yoon
authors.forename: Mi Hee
authors.initials: MH
authors.lastname: Lee
authors.forename: Dong-Joon
authors.initials: DJ
authors.lastname: Kim
authors.forename: Miey
authors.initials: M
authors.lastname: Park
authors.forename: Seung-Hun
authors.initials: SH
authors.lastname: Cha
authors.forename: Jun-Woo
authors.initials: JW
authors.lastname: Kim
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
authors.forename: Haesook
authors.initials: H
authors.lastname: Min
authors.forename: Younjhin
authors.initials: Y
authors.lastname: Ahn
authors.forename: Man Suk
authors.initials: MS
authors.lastname: Park
authors.forename: Hye Ree
authors.initials: HR
authors.lastname: Han
authors.forename: Hye-Yoon
authors.initials: HY
authors.lastname: Jang
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Cho
authors.forename: Jong-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Nam H
authors.initials: NH
authors.lastname: Cho
authors.forename: Chol
authors.initials: C
authors.lastname: Shin
authors.forename: Taesung
authors.initials: T
authors.lastname: Park
authors.forename: Ji Wan
authors.initials: JW
authors.lastname: Park
authors.forename: Jong-Keuk
authors.initials: JK
authors.lastname: Lee
authors.forename: Lon
authors.initials: L
authors.lastname: Cardon
authors.forename: Geraldine
authors.initials: G
authors.lastname: Clarke
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Jong-Koo
authors.initials: JK
authors.lastname: Lee
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D015519:Bone Density / Q000235:genetics; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci / Q000235:genetics*; D049629:Waist-Hip Ratio