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

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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 × 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
Volume41
Issue number5
DOIs
Publication statusPublished - 2009 May 1

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Genome-Wide Association Study
Population Genetics
Chromosomes
Bone Density
Frizzled Receptors
Genes
Blood Pressure
Waist-Hip Ratio
Heel
Korea
Tibia
Population
Body Mass Index
Heart Rate
Genome

ASJC Scopus subject areas

  • Genetics

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A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. / Cho, Yoon Shin; Go, Min Jin; Kim, Young Jin; Heo, Jee Yeon; Oh, Ji Hee; Ban, Hyo Jeong; Yoon, Dankyu; Lee, Mi Hee; Kim, Dong Joon; Park, Miey; Cha, Seung Hun; Kim, Jun Woo; Han, Bok Ghee; Min, Haesook; Ahn, Younjhin; Park, Man Suk; Han, Hye Ree; Jang, Hye Yoon; Cho, Eun Young; Lee, Jong Eun; Cho, Nam H.; Shin, Chol; Park, Taesung; Park, Ji Wan; Lee, Jong Keuk; Cardon, Lon; Clarke, Geraldine; McCarthy, Mark I.; Lee, Jong Young; Lee, Jong Koo; Oh, Bermseok; Kim, Hyung Lae.

In: Nature Genetics, Vol. 41, No. 5, 01.05.2009, p. 527-534.

Research output: Contribution to journalArticle

Cho, YS, Go, MJ, Kim, YJ, Heo, JY, Oh, JH, Ban, HJ, Yoon, D, Lee, MH, Kim, DJ, Park, M, Cha, SH, Kim, JW, Han, BG, Min, H, Ahn, Y, Park, MS, Han, HR, Jang, HY, Cho, EY, Lee, JE, Cho, NH, Shin, C, Park, T, Park, JW, Lee, JK, Cardon, L, Clarke, G, McCarthy, MI, Lee, JY, Lee, JK, Oh, B & Kim, HL 2009, 'A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits', Nature Genetics, vol. 41, no. 5, pp. 527-534. https://doi.org/10.1038/ng.357
Cho, Yoon Shin ; Go, Min Jin ; Kim, Young Jin ; Heo, Jee Yeon ; Oh, Ji Hee ; Ban, Hyo Jeong ; Yoon, Dankyu ; Lee, Mi Hee ; Kim, Dong Joon ; Park, Miey ; Cha, Seung Hun ; Kim, Jun Woo ; Han, Bok Ghee ; Min, Haesook ; Ahn, Younjhin ; Park, Man Suk ; Han, Hye Ree ; Jang, Hye Yoon ; Cho, Eun Young ; Lee, Jong Eun ; Cho, Nam H. ; Shin, Chol ; Park, Taesung ; Park, Ji Wan ; Lee, Jong Keuk ; Cardon, Lon ; Clarke, Geraldine ; McCarthy, Mark I. ; Lee, Jong Young ; Lee, Jong Koo ; Oh, Bermseok ; Kim, Hyung Lae. / A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. In: Nature Genetics. 2009 ; Vol. 41, No. 5. pp. 527-534.
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AU - Oh, Ji Hee

AU - Ban, Hyo Jeong

AU - Yoon, Dankyu

AU - Lee, Mi Hee

AU - Kim, Dong Joon

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AU - Cha, Seung Hun

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AU - Han, Bok Ghee

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