@article {HEUBNER3449, author = {MARTIN HEUBNER and PAULINE WIMBERGER and SABINE KASIMIR-BAUER and FRIEDRICH OTTERBACH and RAINER KIMMIG and WINFRIED SIFFERT}, title = {The AA Genotype of a L1C G842A Polymorphism Is Associated with an Increased Risk for Ovarian Cancer}, volume = {29}, number = {8}, pages = {3449--3452}, year = {2009}, publisher = {International Institute of Anticancer Research}, 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. Patients and 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. Conclusion: The L1C 842 AA genotype may be a predisposing factor for EOC.}, issn = {0250-7005}, URL = {https://ar.iiarjournals.org/content/29/8/3449}, eprint = {https://ar.iiarjournals.org/content/29/8/3449.full.pdf}, journal = {Anticancer Research} }