title: Breast cancer association studies in a Han Chinese population using 10 European-ancestry-associated breast cancer susceptibility SNPs.
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.
  
  
  CONCLUSIONS
  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.
authors: School of Biotechnology, Southern Medical University, Guangzhou, China E-mail : mingli2006_2006@126.com, yechsh2006@126.com.
authors: Yan-Ping
authors: YP
authors: Guan
authors: Xue-Xi
authors: XX
authors: Yang
authors: Guang-Yu
authors: GY
authors: Yao
authors: Fei
authors: F
authors: Qiu
authors: Jun
authors: J
authors: Chen
authors: Lu-Jia
authors: LJ
authors: Chen
authors: Chang-Sheng
authors: CS
authors: Ye
authors: Ming
authors: M
authors: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000737:chemistry / Q000235:genetics*; D015820:Cadherins / Q000235:genetics; D016022:Case-Control Studies; D053181:Caspase 8 / Q000235:genetics; D002681:China / Q000208:ethnology; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D004268:DNA-Binding Proteins / Q000235:genetics; D044783:F-Box Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000032:analysis; D011980:Receptors, Progesterone / Q000032:analysis; D051900:Smad3 Protein / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D004268:DNA-Binding Proteins; D044783:F-Box Proteins; C532335:FBXL17 protein, human; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; D051900:Smad3 Protein; D014157:Transcription Factors; C475725:ZNF365 protein, human; C569039:zinc finger protein 577, human; C505530:CASP8 protein, human; D053181:Caspase 8