title: Association of genetic polymorphisms in AURKA, BRCA1, CCNE1 and CDK2 with the risk of endometrial carcinoma and clinicopathological parameters among Chinese Han women.
abstract: OBJECTIVE
  Centrosome aberrations and cell-cycle deregulations have important implications for the development of endometrial carcinoma. AURKA, BRCA1, CCNE1 and CDK2 genes play pivotal roles in centrosome duplication and cell-cycle regulation. This study aimed to investigate whether genetic polymorphisms in these four genes may contribute to endometrial carcinoma susceptibility and progression in Chinese Han women.
  
  
  METHODS
  A total of twenty-two single nucleotide polymorphisms (SNPs) were selected according to the public HapMap database (HapMap Data Release #27; Chinese Beijing population), and genotyped using TaqMan Realtime PCR method in 530 endometrial adenocarcinoma cases and 825 age-matched controls from Chinese Han women. Then, haplotype blocks were reconstructed according to our genotyping data.
  
  
  RESULTS
  For AURKA, the rs911162 was associated with increased risk of endometrial carcinoma [in co-dominant model: adjusted odds ratio (aOR) = 4.92, 95% CI = 1.24-19.55, P = 0.0235]. The haplotype GA (rs6064391 + rs911162) in block 1 of AURKA was also associated with increased risk of endometrial carcinoma (aOR = 1.25, 95% CI = 1.07-2.06, P = 0.0189). For BRCA1, the minor allele homozygotes of rs8067269 could decrease the risk of endometrial carcinoma (in co-dominant models: aOR = 0.52, 95% CI = 0.34-0.80, P = 0.0032), so was the haplotype CTCAG (rs8176323 + rs8176199 + rs3737559 + rs8067269 + rs2070833) (aOR = 0.69, 95% CI = 0.50-0.95, P = 0.0234). Moreover, we found several associations between genetic variations in CCNE1, BRCA1 and AURKA and clinicopathological parameters.
  
  
  CONCLUSIONS
  This study indicates that genetic polymorphisms of AURKA, BRCA1 and CCNE1 may contribute to endometrial carcinoma susceptibility or progression in Chinese Han women.
authors.affiliation: Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), School of Basic Medical Sciences, Peking University Health Science Center, Beijing, People's Republic of China.
authors.forename: Li-Yuan
authors.initials: LY
authors.lastname: Zheng
authors.affiliation: Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), School of Basic Medical Sciences, Peking University Health Science Center, Beijing, People's Republic of China.
authors.forename: Ai-Ping
authors.initials: AP
authors.lastname: Song
authors.affiliation: Department of Pathology, Beijing Hospital, Beijing, People's Republic of China.
authors.forename: Lan
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Pathology, Beijing Hospital, Beijing, People's Republic of China.
authors.forename: Dong-Ge
authors.initials: DG
authors.lastname: Liu
authors.affiliation: Department of Pathology, Peking University School of Oncology, Beijing Cancer Hospital & Institute, Beijing, People's Republic of China.
authors.forename: Xiang-Hong
authors.initials: XH
authors.lastname: Li
authors.affiliation: Department of Gynecology, Peking University Third Hospital, Beijing, People's Republic of China.
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Guo
authors.affiliation: Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), School of Basic Medical Sciences, Peking University Health Science Center, Beijing, People's Republic of China. Electronic address: tianxinxia@163.com.
authors.forename: Xin-Xia
authors.initials: XX
authors.lastname: Tian
authors.affiliation: Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), School of Basic Medical Sciences, Peking University Health Science Center, Beijing, People's Republic of China. Electronic address: wgfang@bjmu.edu.cn.
authors.forename: Wei-Gang
authors.initials: WG
authors.lastname: Fang
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000483:Alleles; D044466:Asian People / Q000235:genetics; D064096:Aurora Kinase A / Q000235:genetics*; D019313:BRCA1 Protein / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D019927:Cyclin E / Q000235:genetics*; D051357:Cyclin-Dependent Kinase 2 / Q000235:genetics*; D018450:Disease Progression; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D019313:BRCA1 Protein; C475820:CCNE1 protein, human; D019927:Cyclin E; D015513:Oncogene Proteins; C576917:AURKA protein, human; D064096:Aurora Kinase A; D051357:Cyclin-Dependent Kinase 2
keywords: AURKA; BRCA1; CCNE1; Endometrial carcinoma; Single nucleotide polymorphism (SNP)