A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jee Yeon Heo, Ji Hee Oh, Hyo Jeong Ban, Dankyu Yoon, Mi Hee Lee, Dong Joon Kim, Miey Park, Seung Hun Cha, Jun Woo Kim, Bok Ghee Han, Haesook Min, Younjhin Ahn, Man Suk Park, Hye Ree Han, Hye Yoon Jang, Eun Young Cho, Jong Eun LeeNam H. Cho, Chol Shin, Taesung Park, Ji Wan Park, Jong Keuk Lee, Lon Cardon, Geraldine Clarke, Mark I. McCarthy, Jong Young Lee, Jong Koo Lee, Bermseok Oh, Hyung Lae Kim

Research output: Contribution to journalArticlepeer-review

802 Citations (Scopus)


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 × 10-9) and 6q22 (rs12110693, P = 1.6 × 10-9), with the latter ∼ 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 × 10-7). For waist-hip ratio, variants on chromosome 12q24 (rs2074356, P = 7.8 × 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 × 10-11), tibia (P = 1.6 × 10-6) and heel (P = 1.9 × 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 × 10-3, P = 1.4 × 10 -7 and P = 6.0 × 10-4, respectively). This large-scale GWA analysis of well-characterized Korean population-based samples highlights previously unknown biological pathways.

Original languageEnglish
Pages (from-to)527-534
Number of pages8
JournalNature Genetics
Issue number5
Publication statusPublished - 2009 May

Bibliographical note

Funding Information:
This work was supported by a grant from the Ministry for Health, Welfare and Family Affairs, Republic of Korea (4845-301-430-260-00), and an intramural grant from the Korea National Institute of Health, Korea Center for Disease Control, Republic of Korea (4845-301-430-210-13).

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits'. Together they form a unique fingerprint.

Cite this