Browse > Article
http://dx.doi.org/10.7314/APJCP.2014.15.1.85

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

Guan, Yan-Ping (Breast Center Nanfang Hospital, Southern Medical University)
Yang, Xue-Xi (School of Biotechnology, Southern Medical University)
Yao, Guang-Yu (Breast Center Nanfang Hospital, Southern Medical University)
Qiu, Fei (School of Biotechnology, Southern Medical University)
Chen, Jun (Breast Center Nanfang Hospital, Southern Medical University)
Chen, Lu-Jia (Breast Center Nanfang Hospital, Southern Medical University)
Ye, Chang-Sheng (Breast Center Nanfang Hospital, Southern Medical University)
Li, Ming (School of Biotechnology, Southern Medical University)
Publication Information
Asian Pacific Journal of Cancer Prevention / v.15, no.1, 2014 , pp. 85-91 More about this Journal
Abstract
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.
Keywords
Breast cancer; single nucleotide polymorphisms; European susceptibility; Chinese population;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Walker LC, Fredericksen ZS, Wang X, et al (2010). Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res, 12, R102.   DOI   ScienceOn
2 Raskin L, Pinchev M, Arad C, et al (2008). FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Cancer Epidemiol Biomarkers Prev, 17, 1060-5.   DOI   ScienceOn
3 Stacey SN, Manolescu A, Sulem P, et al (2008). Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet, 40, 703-6.   DOI   ScienceOn
4 Sueta A, Ito H, Kawase T, Hirose K, et al (2012). A genetic risk predictor for breast cancer using a combination of lowpenetrance polymorphisms in a Japanese population. Breast Cancer Res Treat, 132, 711-21.   DOI
5 Walsh T, King MC (2007). Ten genes for inherited breast cancer. Cancer Cell, 11, 103-5.   DOI   ScienceOn
6 Yu KD, Di GH, Wu J, et al (2007). Development and trends of surgical modalities for breast cancer in China: a review of 16-year data. Ann Surg Oncol, 14, 2502-9.   DOI   ScienceOn
7 Zheng W, Long J, Gao YT, et al (2009). Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet, 41, 324-8.   DOI   ScienceOn
8 Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90.   DOI
9 Campa D, Kaaks R, Le Marchand L, et al (2011). Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst, 103, 1252-63.   DOI   ScienceOn
10 Li H, Beeghly-Fadiel A, Wen W, et al (2013). Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. Am J Epidemiol, 177, 161-70.   DOI   ScienceOn
11 Hunter DJ, Kraft P, Jacobs KB, et al (2007). A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet, 39, 870-4.   DOI   ScienceOn
12 Jemal A, Siegel R, Ward E, et al (2006). Cancer statistics. CA Cancer J Clin, 56, 106-30.   DOI   ScienceOn
13 Murabito JM, Rosenberg CL, Finger D, et al (2007). A genomewide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. BMC Medical Genetics, 8, S6   DOI
14 Long J, Shu XO, Cai Q, et al (2010). Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev, 19, 2357-65.   DOI
15 Mario, G., Rachel, SC., Kent, O., et al. (2011). Biological mechanisms and clinical implications of endocrine resistance in breast cancer. The Breast, 20S3, S42-9.
16 Couch FJ, Gaudet MM, Antoniou AC, et al (2012). 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. Cancer Epidemiol Biomarkers Prev, 21, 645-57.   DOI   ScienceOn
17 McCracken M, Olsen M, Chen MS Jr, et al (2007). Cancer incidence, mortality, and associated risk factors among Asian Americans of Chinese, Filipino, Vietnamese, Korean, and Japanese ethnicities. CA Cancer J Clin, 57, 190-205.   DOI   ScienceOn
18 Pharoah PD, Antoniou AC, Easton DF, et al (2008). Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med, 358, 2796-803.   DOI   ScienceOn
19 Chan M, Ji SM, Liaw CS, et al (2012). Association of common genetic variants with breast cancer risk and clinic opathological characteristics in a Chinese population. Breast Cancer Res Treat, 136, 209-20.   DOI   ScienceOn
20 Dunnwald LK, Rossing MA, Li CI (2007). Hormone receptor status, tumor characteristics, and prognosis: a prospective cohort of breast cancer patients. Breast Cancer Res, 9, R6.   DOI
21 Easton DF, Pooley KA, Dunning AM, et al (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447, 1087-93.   DOI   ScienceOn
22 Anderson WF, Chu KC, Chatterjee N, et al (2001). Tumor variants by hormone receptor expression in white patients with node-negative breast cancer from the surveillance, epidemiology, and end results database. J Clin Oncol, 19, 18-27.