title: Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.
abstract: 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.
  
  
  RESULTS
  Seven single nucleotide polymorphisms (SNPs) including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan® OpenArray™ 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
  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.
authors: State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China.
authors: Yue
authors: Y
authors: Jiang
authors: Hao
authors: H
authors: Shen
authors: Xiao'an
authors: X
authors: Liu
authors: Juncheng
authors: J
authors: Dai
authors: Guangfu
authors: G
authors: Jin
authors: Zhenzhen
authors: Z
authors: Qin
authors: Jiaping
authors: J
authors: Chen
authors: Shui
authors: S
authors: Wang
authors: Xinru
authors: X
authors: Wang
authors: Zhibin
authors: Z
authors: Hu
authors: Hongbing
authors: H
authors: Shen
mesh_terms: D044466:Asian People; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics