title: The AA genotype of a L1C G842A polymorphism is associated with an increased risk for ovarian cancer.
abstract: BACKGROUND
  Recent studies proposed L1CAM (L1 cell adhesion molecule) expression as a negative prognostic marker in epithelial ovarian cancer (EOC). The gene L1C was screened for single nucleotide polymorphisms (SNPs) which could impact upon EOC risk or disease progression.
  
  
  METHODS
  Overlapping DNA fragments, including the promoter region, intron 1 and all the exons of 10 healthy volunteers were analyzed to detect SNPs. EOC patients (n=103) and age-matched controls (n=104) were subsequently genotyped by restriction fragment length polymorphism (RFLP). Quantitative real-time PCR was carried out to detect potential associations of SNPs with L1C mRNA expression.
  
  
  RESULTS
  One SNP was found in intron 1 (L1C G842A). Genotyping of the EOC patients and age-matched controls revealed an association of EOC with the homozygous AA genotype (OR 7.4, CI 1.6-33.5; p=0.003). The L1C mRNA expression levels and clinical parameters did not differ significantly between the L1C G842A genotypes.
  
  
  CONCLUSIONS
  The L1C 842 AA genotype may be a predisposing factor for EOC.
authors: Institute of Pharmacogenetics, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. Martin.heubner@uk-essen.de
authors: Martin
authors: M
authors: Heubner
authors: Pauline
authors: P
authors: Wimberger
authors: Sabine
authors: S
authors: Kasimir-Bauer
authors: Friedrich
authors: F
authors: Otterbach
authors: Rainer
authors: R
authors: Kimmig
authors: Winfried
authors: W
authors: Siffert
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics* / Q000556:secondary; D002288:Adenocarcinoma, Mucinous / Q000235:genetics* / Q000556:secondary; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018284:Cystadenocarcinoma, Serous / Q000235:genetics* / Q000556:secondary; D004273:DNA, Neoplasm / Q000235:genetics; D018900:Dinucleotide Repeats / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000556:secondary; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; D039842:Neural Cell Adhesion Molecule L1