Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs

被引：6

作者：

Guan, Yan-Ping ^{[2
]}

Yang, Xue-Xi ^{[1
]}

Yao, Guang-Yu ^{[2
]}

Qiu, Fei ^{[1
]}

Chen, Jun ^{[2
]}

Chen, Lu-jia ^{[2
]}

Ye, Chang-Sheng ^{[2
]}

Li, Ming ^{[1
]}

机构：

[1] Southern Med Univ, Sch Biotechnol, Guangzhou, Guangdong, Peoples R China

[2] Southern Med Univ, Nanfang Hosp, Breast Ctr, Guangzhou, Guangdong, Peoples R China

来源：

ASIAN PACIFIC JOURNAL OF CANCER PREVENTION | 2014年 / 15卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Breast cancer; single nucleotide polymorphisms; European susceptibility; Chinese population; GENOME-WIDE ASSOCIATION; GENETIC-VARIANTS; COMMON VARIANTS; RISK-FACTORS; COHORT; FGFR2; LOCI;

D O I：

10.7314/APJCP.2014.15.1.85

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Genome-wide association studies (GWAS) have identified various genetic susceptibility loci for breast cancer based mainly on European-ancestry populations. Differing linkage disequilibrium patterns exist between European and Asian populations. Methods: Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratification analyses were carried out based on the estrogen receptor (ER) and progesterone receptor (PR) status. Results: Among the 10 SNPs, rs10941679 showed significant association with breast cancer when differences between the case and control groups in this Han Chinese population were compared (30.09% GG, 45.4% GA and 23.7% AA; P = 0.012). Four SNPs (rs311499, rs1045485, rs12964873 and rs8170) showed no polymorphisms in our study. The remaining five SNPs showed no association with breast cancer in the present population. Immunohistochemical tests showed that rs2075555 was associated with ER status; the AA genotype showed greater association with ER negative than ER positive (OR = 0.54, 95% CI, 0.29-0.99; P = 0.046). AA of rs7166081 was also associated with ER status, but showed a greater association with ER positive than negative (OR = 1.59, 95% CI = 1.04-2.44; P = 0.031). However, no significant associations were found among the SNPs and PR status. Conclusion: In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. Therefore, confirmation studies are necessary before utilization of these loci in Chinese.

引用

页码：85 / 91

页数：7

共 22 条

[1] Tumor variants by hormone receptor expression in white patients with node-negative breast cancer from the surveillance, epidemiology, and end results database [J].

Anderson, WF ;

Chu, KC ;

Chatterjee, N ;

Brawley, O ;

Brinton, LA .

JOURNAL OF CLINICAL ONCOLOGY, 2001, 19 (01) :18-27

[2] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium [J].

Campa, Daniele ;

Kaaks, Rudolf ;

Le Marchand, Loic ;

Haiman, Christopher A. ;

Travis, Ruth C. ;

Berg, Christine D. ;

Buring, Julie E. ;

Chanock, Stephen J. ;

Diver, W. Ryan ;

Dostal, Lucie ;

Fournier, Agnes ;

Hankinson, Susan E. ;

Henderson, Brian E. ;

Hoover, Robert N. ;

Isaacs, Claudine ;

Johansson, Mattias ;

Kolonel, Laurence N. ;

Kraft, Peter ;

Lee, I-Min ;

McCarty, Catherine A. ;

Overvad, Kim ;

Panico, Salvatore ;

Peeters, Petra H. M. ;

Riboli, Elio ;

Jose Sanchez, Maria ;

Schumacher, Fredrick R. ;

Skeie, Guri ;

Stram, Daniel O. ;

Thun, Michael J. ;

Trichopoulos, Dimitrios ;

Zhang, Shumin ;

Ziegler, Regina G. ;

Hunter, David J. ;

Lindstroem, Sara ;

Canzian, Federico .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (16) :1252-1263

[3] Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population [J].

Chan, M. ;

Ji, S. M. ;

Liaw, C. S. ;

Yap, Y. S. ;

Law, H. Y. ;

Yoon, C. S. ;

Wong, C. Y. ;

Yong, W. S. ;

Wong, N. S. ;

Ng, R. ;

Ong, K. W. ;

Madhukumar, P. ;

Oey, C. L. ;

Tan, P. H. ;

Li, H. H. ;

Ang, P. ;

Ho, G. H. ;

Lee, A. S. G. .

BREAST CANCER RESEARCH AND TREATMENT, 2012, 136 (01) :209-220

[4] Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers [J].

Couch, Fergus J. ;

Gaudet, Mia M. ;

Antoniou, Antonis C. ;

Ramus, Susan J. ;

Kuchenbaecker, Karoline B. ;

Soucy, Penny ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

Wang, Xianshu ;

Kirchhoff, Tomas ;

McGuffog, Lesley ;

Barrowdale, Daniel ;

Lee, Andrew ;

Healey, Sue ;

Sinilnikova, Olga M. ;

Andrulis, Irene L. ;

Ozcelik, Hilmi ;

Mulligan, Anna Marie ;

Thomassen, Mads ;

Gerdes, Anne-Marie ;

Jensen, Uffe Birk ;

Skytte, Anne-Bine ;

Kruse, Torben A. ;

Caligo, Maria A. ;

von Wachenfeldt, Anna ;

Barbany-Bustinza, Gisela ;

Loman, Niklas ;

Soller, Maria ;

Ehrencrona, Hans ;

Karlsson, Per ;

Nathanson, Katherine L. ;

Rebbeck, Timothy R. ;

Domchek, Susan M. ;

Jakubowska, Ania ;

Lubinski, Jan ;

Jaworska, Katarzyna ;

Durda, Katarzyna ;

Zlowocka, Elzbieta ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gronwald, Jacek ;

Cybulski, Cezary ;

Gorski, Bohdan ;

Osorio, Ana ;

Duran, Mercedes ;

Isabel Tejada, Maria ;

Benitez, Javier ;

Hamann, Ute ;

Hogervorst, Frans B. L. ;

van Os, Theo A. .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2012, 21 (04) :645-657

[5] Hormone receptor status, tumor characteristics, and prognosis: a prospective cohort of breast cancer patients [J].

Dunnwald, Lisa K. ;

Rossing, Mary Anne ;

Li, Christopher I. .

BREAST CANCER RESEARCH, 2007, 9 (01)

[6] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[7] Biological mechanisms and clinical implications of endocrine resistance in breast cancer [J].

Giuliano, Mario ;

Schiff, Rachel ;

Osborne, C. Kent ;

Trivedi, Meghana V. .

BREAST, 2011, 20 :S42-S49

[8] A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer [J].

Hunter, David J. ;

Kraft, Peter ;

Jacobs, Kevin B. ;

Cox, David G. ;

Yeager, Meredith ;

Hankinson, Susan E. ;

Wacholder, Sholom ;

Wang, Zhaoming ;

Welch, Robert ;

Hutchinson, Amy ;

Wang, Junwen ;

Yu, Kai ;

Chatterjee, Nilanjan ;

Orr, Nick ;

Willett, Walter C. ;

Colditz, Graham A. ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Hayes, Richard B. ;

Tucker, Margaret ;

Gerhard, Daniela S. ;

Fraumeni, Joseph F., Jr. ;

Hoover, Robert N. ;

Thomas, Gilles ;

Chanock, Stephen J. .

NATURE GENETICS, 2007, 39 (07) :870-874

[9] Cancer statistics, 2006 [J].

Jemal, A ;

Siegel, R ;

Ward, E ;

Murray, T ;

Xu, JQ ;

Smigal, C ;

Thun, MJ .

CA-A CANCER JOURNAL FOR CLINICIANS, 2006, 56 (02) :106-130

[10] Gene-Environment Interactions for Breast Cancer Risk Among Chinese Women: A Report From the Shanghai Breast Cancer Genetics Study [J].

Li, Haixin ;

Beeghly-Fadiel, Alicia ;

Wen, Wanqing ;

Lu, Wei ;

Gao, Yu-Tang ;

Xiang, Yong-Bing ;

Cai, Qiuyin ;

Long, Jirong ;

Shi, Jiajun ;

Chen, Kexin ;

Zheng, Ying ;

Shu, Xiao Ou ;

Zheng, Wei .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2013, 177 (02) :161-170

← 1 2 3 →