title: Single nucleotide polymorphism of SREBF-1 gene associated with an increased risk of endometrial cancer in Chinese women.
abstract: OBJECTIVE
  Elevated levels of sterol regulatory element-binding protein-1 (SREBP-1) have been found in endometrial cancer (EC), suggesting that it is essential to the development of EC. Obesity and diabetes have been established as known risk factors of EC, while SREBF-1 gene polymorphisms have also been found to be associated with obesity and type II diabetes. Therefore, we hypothesize that single nucleotide polymorphism (SNP) in SREBF-1 gene may be associated with increased risk of EC.
  
  
  METHODS
  We analyzed the sequence of SREBF-1 in tissue samples from 30 EC cases and 6 benign controls using high throughput method. Based on the primary results, we selected one SNP (rs2297508) as a genetic marker to conduct a hospital-based case-control study with 139 EC cases and 129 benign controls. The samples were examined under the microscope to determine their histopathology prior to the SNP analysis using RT-PCR.
  
  
  RESULTS
  Through sequence analysis, we found 10 SNPs of SREBF-1 associated with EC, including 3 new SNPs. Fourteen percent of EC showed the rs2297508 SNP with C allele, while only 7% had the C allele was present in benign controls (p = 0.027, OR = 1.983). Additionally, the C allele was associated with cancer differentiation (p<0.05) and the depth of myometrial invasion (p<0.05).
  
  
  CONCLUSIONS
  Our study indicates that SNP (rs2297508) of SREBF-1 may serve as a genetic predisposition factor for the development of EC and screening of such genetic marker may be helpful in its early detection.
authors.affiliation: Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, P R China.
authors.forename: Chun-Ping
authors.initials: CP
authors.lastname: Qiu
authors.affiliation: Department of Pharmaceutical Chemistry, Shandong University of Traditional Chinese Medicine, Jinan, P R China.
authors.forename: Qing-Tao
authors.initials: QT
authors.lastname: Lv
authors.affiliation: Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, P R China.
authors.forename: Samina
authors.initials: S
authors.lastname: Dongol
authors.affiliation: Departments of Cancer Biology, Stem Cell Biology and Regenerative Medicine, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
authors.forename: Chenguang
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, P R China.
authors.forename: Jie
authors.initials: J
authors.lastname: Jiang
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D009215:Myometrium / Q000473:pathology; D060787:Neoplasm Grading; D009361:Neoplasm Invasiveness; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D051780:Sterol Regulatory Element Binding Protein 1 / Q000235:genetics*
chemical_list: C497387:SREBF1 protein, human; D051780:Sterol Regulatory Element Binding Protein 1