Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium

被引：80

作者：

Cai, Qiuyin ^{[1
]}

Long, Jirong ^{[1
]}

Lu, Wei ^{[3
]}

Qu, Shimian ^{[1
]}

Wen, Wanqing ^{[1
]}

Kang, Daehee ^{[4
,5
,6
]}

Lee, Ji-Young ^{[5
]}

Chen, Kexin ^{[8
]}

Shen, Hongbing ^{[9
]}

Shen, Chen-Yang ^{[10
]}

Sung, Hyuna ^{[4
]}

Matsuo, Keitaro ^{[11
]}

Haiman, Christopher A. ^{[12
]}

Khoo, Ui Soon ^{[13
]}

Ren, Zefang ^{[14
]}

Iwasaki, Motoki ^{[18
]}

Gu, Kai ^{[3
]}

Xiang, Yong-Bing ^{[19
]}

Choi, Ji-Yeob ^{[4
]}

Park, Sue K. ^{[4
,5
,6
]}

Zhang, Lina ^{[8
]}

Hu, Zhibin ^{[9
]}

Wu, Pei-Ei ^{[10
]}

Noh, Dong-Young ^{[6
,7
]}

Tajima, Kazuo ^{[11
]}

Henderson, Brian E. ^{[12
]}

Chan, Kelvin Y. K. ^{[13
]}

Su, Fengxi ^{[15
]}

Kasuga, Yoshio ^{[20
]}

Wang, Wenjing ^{[3
]}

Cheng, Jia-Rong ^{[19
]}

Yoo, Keun-Young ^{[5
]}

Lee, Jong-Young ^{[21
]}

Zheng, Hong ^{[8
]}

Liu, Yao ^{[9
]}

Shieh, Ya-Lan ^{[10
]}

Kim, Sung-Won ^{[22
]}

Lee, Jong Won ^{[23
]}

Iwata, Hiroji ^{[24
]}

Le Marchand, Loic ^{[25
]}

Chan, Sum Yin ^{[13
]}

Xie, Xiaoming ^{[16
]}

Tsugane, Shoichiro ^{[18
]}

Lee, Min Hyuk ^{[26
]}

Wang, Shenming ^{[17
]}

Li, Guoliang ^{[1
]}

Levy, Shawn ^{[27
]}

Huang, Bo ^{[1
]}

Shi, Jiajun ^{[1
]}

Delahanty, Ryan ^{[1
]}

机构：

[1] Vanderbilt Univ, Vanderbilt Epidemiol Ctr, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med,Sch Med, Nashville, TN 37203 USA

[2] Vanderbilt Univ, Sch Med, Dept Biostat, Nashville, TN 37203 USA

[3] Shanghai Municipal Ctr Dis Control & Prevent, Shanghai, Peoples R China

[4] Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea

[5] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea

[6] Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea

[7] Seoul Natl Univ, Coll Med, Dept Surg, Seoul, South Korea

[8] Tianjin Med Univ, Canc Inst & Hosp, Dept Epidemiol & Biostat, Tianjin, Peoples R China

[9] Nanjing Med Univ, Dept Epidemiol & Biostat, Nanjing, Peoples R China

[10] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[11] Aichi Canc Ctr, Res Inst, Div Epidemiol & Prevent, Nagoya, Aichi 464, Japan

[12] Univ So Calif, Dept Prevent Med, Keck Sch Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90089 USA

[13] Univ Hong Kong, Li Ka Shing Fac Med, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

[14] Sun Yat Sen Univ, Sch Publ Hlth, Guangzhou 510275, Guangdong, Peoples R China

[15] Sun Yat Sen Univ, Affiliated Hosp 2, Guangzhou 510275, Guangdong, Peoples R China

[16] Sun Yat Sen Univ, Ctr Canc, Guangzhou 510275, Guangdong, Peoples R China

[17] Sun Yat Sen Univ, Affiliated Hosp 1, Guangzhou 510275, Guangdong, Peoples R China

[18] Natl Canc Ctr, Epidemiol & Prevent Div, Res Ctr Canc Prevent & Screening, Tokyo 104, Japan

[19] Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China

[20] Nagano Matsushiro Gen Hosp, Dept Surg, Nagano, Japan

[21] KCDC, Korea Natl Inst Hlth, Ctr Genome Sci, Chungcheongbuk Do, South Korea

[22] Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Surg, Songnam, South Korea

[23] Univ Ulsan, Coll Med, Dept Surg, Seoul, South Korea

[24] Aichi Canc Ctr, Cent Hosp, Dept Breast Oncol, Nagoya, Aichi 464, Japan

[25] Univ Hawaii, Canc Res Ctr, Program Epidemiol, Honolulu, HI 96813 USA

[26] Soonchunhyang Univ Hosp, Dept Surg, Puchon, South Korea

[27] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

来源：

HUMAN MOLECULAR GENETICS | 2011年 / 20卷 / 24期

基金：

中国国家自然科学基金; 新加坡国家研究基金会; 美国国家卫生研究院;

关键词：

CHINESE WOMEN; SUSCEPTIBILITY LOCI; GENETIC-VARIANTS; CONFER SUSCEPTIBILITY; MULTIETHNIC COHORT; COMMON VARIANTS; POLYMORPHISMS; THERAPY; ALLELES; FLIP;

D O I：

10.1093/hmg/ddr405

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Although approximately 20 common genetic susceptibility loci have been identified for breast cancer risk through genome-wide association studies (GWASs), genetic risk variants reported to date explain only a small fraction of heritability for this common cancer. We conducted a four-stage GWAS including 17 153 cases and 16 943 controls among East-Asian women to search for new genetic risk factors for breast cancer. After analyzing 684 457 SNPs in 2062 cases and 2066 controls (Stage I), we selected for replication among 5969 Chinese women (4146 cases and 1823 controls) the top 49 SNPs that had neither been reported previously nor were in strong linkage disequilibrium with reported SNPs (Stage II). Three SNPs were further evaluated in up to 13 152 Chinese and Japanese women (6436 cases and 6716 controls) (Stage III). Finally, two SNPs were evaluated in 10 847 Korean women (4509 cases and 6338 controls) (Stage IV). SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 x 10(-9)). In vitro electrophoretic mobility shift assays demonstrated the potential functional significance of rs10822013. Our results strongly implicate rs10822013 at 10q21.2 as a genetic risk variant for breast cancer among East-Asian women.

引用

页码：4991 / 4999

页数：9

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