Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

Qiuyin Cai, Ben Zhang, Hyuna Sung, Siew Kee Low, Sun Seog Kweon, Wei Lu, Jiajun Shi, Jirong Long, Wanqing Wen, Ji Yeob Choi, Dong Young Noh, Chen Yang Shen, Keitaro Matsuo, Soo Hwang Teo, Mi Kyung Kim, Ui Soon Khoo, Motoki Iwasaki, Mikael Hartman, Atsushi Takahashi, Kyota AshikawaKoichi Matsuda, Min Ho Shin, Min Ho Park, Ying Zheng, Yong Bing Xiang, Bu Tian Ji, Sue K. Park, Pei Ei Wu, Chia Ni Hsiung, Hidemi Ito, Yoshio Kasuga, Peter Kang, Shivaani Mariapun, Sei Hyun Ahn, Han Sung Kang, Kelvin Y.K. Chan, Ellen P.S. Man, Hiroji Iwata, Shoichiro Tsugane, Hui Miao, Jiemin Liao, Yusuke Nakamura, Michiaki Kubo, Ryan J. Delahanty, Yanfeng Zhang, Bingshan Li, Chun Li, Yu Tang Gao, Xiao Ou Shu, Daehee Kang, Wei Zheng

Research output: Contribution to journalArticle

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Abstract

In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P = 8.82 × 10-9), rs10474352 at 5q14.3 (near the ARRDC3 gene; P = 1.67 × 10-9) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P = 4.25 × 10-8). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P = 0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

Original languageEnglish
Pages (from-to)886-890
Number of pages5
JournalNature Genetics
Volume46
Issue number8
DOIs
Publication statusPublished - 01-01-2014

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Genome-Wide Association Study
Breast Neoplasms
Introns
Genes
Genetic Loci
Transcription Factors
Binding Sites

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Cai, Qiuyin ; Zhang, Ben ; Sung, Hyuna ; Low, Siew Kee ; Kweon, Sun Seog ; Lu, Wei ; Shi, Jiajun ; Long, Jirong ; Wen, Wanqing ; Choi, Ji Yeob ; Noh, Dong Young ; Shen, Chen Yang ; Matsuo, Keitaro ; Teo, Soo Hwang ; Kim, Mi Kyung ; Khoo, Ui Soon ; Iwasaki, Motoki ; Hartman, Mikael ; Takahashi, Atsushi ; Ashikawa, Kyota ; Matsuda, Koichi ; Shin, Min Ho ; Park, Min Ho ; Zheng, Ying ; Xiang, Yong Bing ; Ji, Bu Tian ; Park, Sue K. ; Wu, Pei Ei ; Hsiung, Chia Ni ; Ito, Hidemi ; Kasuga, Yoshio ; Kang, Peter ; Mariapun, Shivaani ; Ahn, Sei Hyun ; Kang, Han Sung ; Chan, Kelvin Y.K. ; Man, Ellen P.S. ; Iwata, Hiroji ; Tsugane, Shoichiro ; Miao, Hui ; Liao, Jiemin ; Nakamura, Yusuke ; Kubo, Michiaki ; Delahanty, Ryan J. ; Zhang, Yanfeng ; Li, Bingshan ; Li, Chun ; Gao, Yu Tang ; Shu, Xiao Ou ; Kang, Daehee ; Zheng, Wei. / Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. In: Nature Genetics. 2014 ; Vol. 46, No. 8. pp. 886-890.
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title = "Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1",
abstract = "In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P = 8.82 × 10-9), rs10474352 at 5q14.3 (near the ARRDC3 gene; P = 1.67 × 10-9) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P = 4.25 × 10-8). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P = 0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.",
author = "Qiuyin Cai and Ben Zhang and Hyuna Sung and Low, {Siew Kee} and Kweon, {Sun Seog} and Wei Lu and Jiajun Shi and Jirong Long and Wanqing Wen and Choi, {Ji Yeob} and Noh, {Dong Young} and Shen, {Chen Yang} and Keitaro Matsuo and Teo, {Soo Hwang} and Kim, {Mi Kyung} and Khoo, {Ui Soon} and Motoki Iwasaki and Mikael Hartman and Atsushi Takahashi and Kyota Ashikawa and Koichi Matsuda and Shin, {Min Ho} and Park, {Min Ho} and Ying Zheng and Xiang, {Yong Bing} and Ji, {Bu Tian} and Park, {Sue K.} and Wu, {Pei Ei} and Hsiung, {Chia Ni} and Hidemi Ito and Yoshio Kasuga and Peter Kang and Shivaani Mariapun and Ahn, {Sei Hyun} and Kang, {Han Sung} and Chan, {Kelvin Y.K.} and Man, {Ellen P.S.} and Hiroji Iwata and Shoichiro Tsugane and Hui Miao and Jiemin Liao and Yusuke Nakamura and Michiaki Kubo and Delahanty, {Ryan J.} and Yanfeng Zhang and Bingshan Li and Chun Li and Gao, {Yu Tang} and Shu, {Xiao Ou} and Daehee Kang and Wei Zheng",
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Cai, Q, Zhang, B, Sung, H, Low, SK, Kweon, SS, Lu, W, Shi, J, Long, J, Wen, W, Choi, JY, Noh, DY, Shen, CY, Matsuo, K, Teo, SH, Kim, MK, Khoo, US, Iwasaki, M, Hartman, M, Takahashi, A, Ashikawa, K, Matsuda, K, Shin, MH, Park, MH, Zheng, Y, Xiang, YB, Ji, BT, Park, SK, Wu, PE, Hsiung, CN, Ito, H, Kasuga, Y, Kang, P, Mariapun, S, Ahn, SH, Kang, HS, Chan, KYK, Man, EPS, Iwata, H, Tsugane, S, Miao, H, Liao, J, Nakamura, Y, Kubo, M, Delahanty, RJ, Zhang, Y, Li, B, Li, C, Gao, YT, Shu, XO, Kang, D & Zheng, W 2014, 'Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1', Nature Genetics, vol. 46, no. 8, pp. 886-890. https://doi.org/10.1038/ng.3041

Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. / Cai, Qiuyin; Zhang, Ben; Sung, Hyuna; Low, Siew Kee; Kweon, Sun Seog; Lu, Wei; Shi, Jiajun; Long, Jirong; Wen, Wanqing; Choi, Ji Yeob; Noh, Dong Young; Shen, Chen Yang; Matsuo, Keitaro; Teo, Soo Hwang; Kim, Mi Kyung; Khoo, Ui Soon; Iwasaki, Motoki; Hartman, Mikael; Takahashi, Atsushi; Ashikawa, Kyota; Matsuda, Koichi; Shin, Min Ho; Park, Min Ho; Zheng, Ying; Xiang, Yong Bing; Ji, Bu Tian; Park, Sue K.; Wu, Pei Ei; Hsiung, Chia Ni; Ito, Hidemi; Kasuga, Yoshio; Kang, Peter; Mariapun, Shivaani; Ahn, Sei Hyun; Kang, Han Sung; Chan, Kelvin Y.K.; Man, Ellen P.S.; Iwata, Hiroji; Tsugane, Shoichiro; Miao, Hui; Liao, Jiemin; Nakamura, Yusuke; Kubo, Michiaki; Delahanty, Ryan J.; Zhang, Yanfeng; Li, Bingshan; Li, Chun; Gao, Yu Tang; Shu, Xiao Ou; Kang, Daehee; Zheng, Wei.

In: Nature Genetics, Vol. 46, No. 8, 01.01.2014, p. 886-890.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

AU - Cai, Qiuyin

AU - Zhang, Ben

AU - Sung, Hyuna

AU - Low, Siew Kee

AU - Kweon, Sun Seog

AU - Lu, Wei

AU - Shi, Jiajun

AU - Long, Jirong

AU - Wen, Wanqing

AU - Choi, Ji Yeob

AU - Noh, Dong Young

AU - Shen, Chen Yang

AU - Matsuo, Keitaro

AU - Teo, Soo Hwang

AU - Kim, Mi Kyung

AU - Khoo, Ui Soon

AU - Iwasaki, Motoki

AU - Hartman, Mikael

AU - Takahashi, Atsushi

AU - Ashikawa, Kyota

AU - Matsuda, Koichi

AU - Shin, Min Ho

AU - Park, Min Ho

AU - Zheng, Ying

AU - Xiang, Yong Bing

AU - Ji, Bu Tian

AU - Park, Sue K.

AU - Wu, Pei Ei

AU - Hsiung, Chia Ni

AU - Ito, Hidemi

AU - Kasuga, Yoshio

AU - Kang, Peter

AU - Mariapun, Shivaani

AU - Ahn, Sei Hyun

AU - Kang, Han Sung

AU - Chan, Kelvin Y.K.

AU - Man, Ellen P.S.

AU - Iwata, Hiroji

AU - Tsugane, Shoichiro

AU - Miao, Hui

AU - Liao, Jiemin

AU - Nakamura, Yusuke

AU - Kubo, Michiaki

AU - Delahanty, Ryan J.

AU - Zhang, Yanfeng

AU - Li, Bingshan

AU - Li, Chun

AU - Gao, Yu Tang

AU - Shu, Xiao Ou

AU - Kang, Daehee

AU - Zheng, Wei

PY - 2014/1/1

Y1 - 2014/1/1

N2 - In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P = 8.82 × 10-9), rs10474352 at 5q14.3 (near the ARRDC3 gene; P = 1.67 × 10-9) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P = 4.25 × 10-8). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P = 0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

AB - In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P = 8.82 × 10-9), rs10474352 at 5q14.3 (near the ARRDC3 gene; P = 1.67 × 10-9) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P = 4.25 × 10-8). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P = 0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

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