The AA genotype of a L1C G842A polymorphism is associated with an increased risk for ovarian cancer.
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.
Heubner
Martin
M
Institute of Pharmacogenetics, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. Martin.heubner@uk-essen.de
Wimberger
Pauline
P
Kasimir-Bauer
Sabine
S
Otterbach
Friedrich
F
Kimmig
Rainer
R
Siffert
Winfried
W
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
D004273:DNA, Neoplasm; D039842:Neural Cell Adhesion Molecule L1