Genetic Variants at 1p11.2 and Breast Cancer Risk: A Two-Stage Study in Chinese Women

被引:19
作者
Jiang, Yue [1 ,2 ,3 ]
Shen, Hao [2 ]
Liu, Xiao'an [4 ]
Dai, Juncheng [2 ]
Jin, Guangfu [1 ,2 ,3 ]
Qin, Zhenzhen [2 ]
Chen, Jiaping [2 ,3 ]
Wang, Shui [4 ]
Wang, Xinru [1 ,2 ]
Hu, Zhibin [1 ,2 ,3 ]
Shen, Hongbing [1 ,2 ,3 ]
机构
[1] Nanjing Med Univ, State Key Lab Reprod Med, Inst Toxicol, Nanjing, Peoples R China
[2] Nanjing Med Univ, Sch Publ Hlth, MOE Key Lab Modern Toxicol, Nanjing, Peoples R China
[3] Nanjing Med Univ, Clin Epidemiol Sect, Jiangsu Key Lab Canc Biomarkers Prevent & Treatme, Ctr Canc, Nanjing, Peoples R China
[4] Nanjing Med Univ, Dept Gen Surg, Affiliated Hosp 1, Nanjing, Peoples R China
基金
中国国家自然科学基金;
关键词
GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY; LOCI; ALLELES; NOTCH2;
D O I
10.1371/journal.pone.0021563
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Background: Genome-wide association studies (GWAS) have identified several breast cancer susceptibility loci, and one genetic variant, rs11249433, at 1p11.2 was reported to be associated with breast cancer in European populations. To explore the genetic variants in this region associated with breast cancer in Chinese women, we conducted a two-stage fine-mapping study with a total of 1792 breast cancer cases and 1867 controls. Methodology/Principal Findings: Seven single nucleotide polymorphisms (SNPs) including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan (R) OpenArray (TM) Genotyping System for stage 1 samples (878 cases and 900 controls). In stage 2 (914 cases and 967 controls), three SNPs (rs2580520, rs4844616 and rs11249433) were further selected and genotyped for validation. The results showed that one SNP (rs2580520) located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model [Odds Ratio (OR) = 1.66, 95% confidence interval (CI) = 1.16-2.36 for stage 2 samples; OR = 1.51, 95% CI = 1.16-1.97 for combined samples, respectively]. However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR = 1.20, 95% CI = 0.92-1.57). Conclusions/Significance: Genotypes of rs2580520 at 1p11.2 suggest that Chinese women may have different breast cancer susceptibility loci, which may contribute to the development of breast cancer in this population.
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页数:8
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