Replication and Functional Genomic Analyses of the Breast Cancer Susceptibility Locus at 6q25.1 Generalize Its Importance in Women of Chinese, Japanese, and European Ancestry

被引：70

作者：

Cai, Qiuyin ^{[1
]}

Wen, Wanqing ^{[1
]}

Qu, Shimian ^{[1
]}

Li, Guoliang ^{[1
]}

Egan, Kathleen M. ^{[3
]}

Chen, Kexin ^{[4
]}

Deming, Sandra L. ^{[1
]}

Shen, Hongbing ^{[5
]}

Shen, Chen-Yang ^{[6
]}

Gammon, Marilie D. ^{[7
]}

Blot, William J. ^{[1
]}

Matsuo, Keitaro ^{[9
]}

Haiman, Christopher A. ^{[11
]}

Khoo, Ui Soon ^{[12
]}

Iwasaki, Motoki ^{[13
]}

Santella, Regina M. ^{[14
]}

Zhang, Lina ^{[4
]}

Fair, Alecia Malin ^{[2
]}

Hu, Zhibin ^{[5
]}

Wu, Pei-Ei ^{[6
]}

Signorello, Lisa B. ^{[1
]}

Titus-Ernstoff, Linda ^{[15
,16
]}

Tajima, Kazuo ^{[9
]}

Henderson, Brian E. ^{[11
]}

Chan, Kelvin Y. K. ^{[12
]}

Kasuga, Yoshio ^{[17
]}

Newcomb, Polly A. ^{[18
,20
]}

Zheng, Hong ^{[4
]}

Cui, Yong ^{[2
]}

Wang, Furu ^{[5
]}

Shieh, Ya-Lan ^{[6
]}

Iwata, Hiroji ^{[10
]}

Le Marchand, Loic ^{[21
]}

Chan, Sum Yin ^{[12
]}

Shrubsole, Martha J. ^{[1
]}

Trentham-Dietz, Amy ^{[18
,19
]}

Tsugane, Shoichiro ^{[13
]}

Garcia-Closas, Montserrat ^{[8
]}

Long, Jirong ^{[1
]}

Li, Chun ^{[1
]}

Shi, Jiajun ^{[1
]}

Huang, Bo ^{[1
]}

Xiang, Yong-Bing ^{[22
]}

Gao, Yu-Tang ^{[22
]}

Lu, Wei ^{[23
]}

Shu, Xiao-Ou ^{[1
]}

Zheng, Wei ^{[1
]}

机构：

[1] Vanderbilt Univ, Sch Med, Vanderbilt Epidemiol Ctr, Div Epidemiol,Dept Med,Vanderbilt Ingram Canc Ctr, Nashville, TN 37232 USA

[2] Meharry Med Coll, Nashville, TN 37208 USA

[3] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Div Canc Prevent & Control,Med Res Ctr, Tampa, FL 33612 USA

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

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

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

[7] Univ N Carolina, Sch Publ Hlth, Dept Epidemiol, Chapel Hill, NC USA

[8] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA

[9] Aichi Canc Ctr Res Inst, Div Epidemiol & Prevent, Aichi, Japan

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

[11] Univ So Calif, Keck Sch Med, Dept Prevent Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA

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

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

[14] Columbia Univ, Mailman Sch Publ Hlth, Dept Environm Hlth Sci, New York, NY USA

[15] Dartmouth Med Sch, Norris Cotton Canc Ctr, Lebanon, NH USA

[16] Hood Ctr Children & Families, Lebanon, NH USA

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

[18] Univ Wisconsin, Paul P Carbone Comprehens Canc Ctr, Madison, WI USA

[19] Univ Wisconsin, Dept Populat Hlth Sci, Madison, WI USA

[20] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Seattle, WA 98104 USA

[21] Univ Hawaii, Canc Res Ctr, Program Epidemiol, Honolulu, HI 96822 USA

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

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

来源：

CANCER RESEARCH | 2011年 / 71卷 / 04期

基金：

中国国家自然科学基金;

关键词：

WIDE ASSOCIATION; GENETIC-VARIANTS; ER-ALPHA; RISK; POLYMORPHISMS; COHORT;

D O I：

10.1158/0008-5472.CAN-10-2733

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

We evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinese women [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 x 10(-30)], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 x 10(-4)], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r(2) = 0.91) and European-ancestry (r(2) = 0.83) populations, but not in Africans (r(2) = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. Cancer Res; 71(4); 1344-55. (C)2011 AACR.

引用

页码：1344 / 1355

页数：12

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