Short Paper: Molecular BiologyA case–control study on the rs3130932 single nucleotide polymorphism in the OCT4B translation initiation codon in association with cancer stateKatafigiotis, Sokratisa; Papamichos, Spyros I.a,b; Katopodi, Roulab; Papazisis, Konstantinosg; Mylonaki, Efif; Repana, Dimitrag; Kotoula, Vassilikic; Karavidopoulou, Youlad; Agorastos, Theodorose; Tarlatzis, Basil C.a; Lambropoulos, Alexandros F.a,bAuthor Information aLaboratory of Molecular Biology, First Department of Obstetrics and Gynecology, Papageorgiou General Regional Hospital bLaboratory of Molecular Biology and Genetics cDepartment of Pathology dLaboratory of Medical Informatics e a-eFourth Department of Obstetrics and Gynecology, Hippokrateion General Hospital, School of Medicine, Aristotle University fSecond Clinic of Chest Medicine, G. Papanikolaou General Hospital gThird Department of Medical Oncology, Theagenion Cancer Hospital, Thessaloniki, Greece Correspondence to Professor Alexandros F. Lambropoulos, MSc, PhD, Aristotle University of Thessaloniki, Ring Road, 56403 Thessaloniki, Greece Tel: +30 2313 323280; fax: +30 2310 991486; e-mail: firstname.lastname@example.org Sokratis Katafigiotis and Spyros I. Papamichos equally contributed to this study Received November 5, 2010 Accepted December 5, 2010 European Journal of Cancer Prevention: May 2011 - Volume 20 - Issue 3 - p 248-251 doi: 10.1097/CEJ.0b013e32834474c7 Buy Metrics Abstract A previously characterized single nucleotide polymorphism (rs3130932) in the translation initiation codon of the OCT4B isoform of the human OCT4 gene, ATG→AGG, is expected to hamper its expression in individuals carrying the AGG genotype. A case–control association study was conducted to validate the AGG genotype as a risk factor for tumour development. Blood samples were collected from 221 female patients with breast cancer, 100 female patients with ovarian cancer, 109 male patients with lung cancer and 553 age-matched and sex-matched healthy individuals. DNA was tested by restriction fragment length polymorphism-PCR for the presence of rs3130932. Statistical association studies were carried out to investigate any association between hOCT4 genotypes and the onset of cancer. Genotypic and allelic statistical analyses led to no significant case–control differences at a P value of less than 0.05 in all different types of cancer, thus showing no significant correlation of the hOCT4 genotypes tested with breast, ovarian or lung cancer risk. The AGG genotype in rs3130932 is not associated with increased (or decreased) cancer risk in homozygous individuals. Research focusing on the elucidation of the biological roles of each OCT4 isoform is further warranted. © 2011 Lippincott Williams & Wilkins, Inc.