Ozbey Ulku, Yüce Hüseyin, Namli Mustafa, Elkiran Tamer
Genetic Department, Faculty of Veterinary Medicine, Yüzünci Yil University, Zeve Campus, 65080 Van, Turkey.
Genet Res Int. 2011;2011:483851. doi: 10.4061/2011/483851. Epub 2011 Mar 3.
Objective. The reduced incidence of cancer observed in schizophrenia patients may be related to differences in genetic background. It has been suggested that genetic predisposition towards schizophrenia is associated with reduced vulnerability to lung cancer, and p53 gene is one of the candidate genes. In our study, we aimed to investigate polymorphisms in the BstUI in exon 4 and MspI in intron 6 restriction sites of the p53 gene in Turkish schizophrenia patients, lung cancer patients, and controls. Material and Methods. Allele and genotype incidence of these polymorphisms with their haplotype combinations were studied in 100 Turkish lung cancer and schizophrenia patients and 100 controls without malignant and schizophrenia diseases. The genotype characteristics were determined by PCR-based RFLP method using DNA extracted from peripheral blood. Results. For the BstUI and MspI polymorphism, there were found significant differences in the genotype and allele frequencies between schizophrenia and lung cancer patients with control groups (P < .01). The analysis based on haplotype frequencies showed the presence of BstUI-MspI 2-1 haplotype in cancer patients (12%) in contrast to the absence of this haplotype in schizophrenia and controls. Only in lung cancer patients we found both significant decrease of A1 allele of the p53 codon 72 (OR 0.23, 95% CI 0.9-0.58) and A1/A1 homozygous genotype (P < .0001, OR 0.19). Conclusion. The results of this study suggest a protective effect of A1 allele against lung cancer, and the p53 MspI polymorphism may modify the susceptibility to lung cancer as a single factor rather than in combination with BstUI polymorphism.
目的。在精神分裂症患者中观察到的癌症发病率降低可能与遗传背景差异有关。有人提出,精神分裂症的遗传易感性与肺癌易感性降低有关,而p53基因是候选基因之一。在我们的研究中,我们旨在调查土耳其精神分裂症患者、肺癌患者和对照组中p53基因第4外显子的BstUI和第6内含子的MspI限制性位点的多态性。材料与方法。在100名土耳其肺癌和精神分裂症患者以及100名无恶性疾病和精神分裂症的对照组中研究了这些多态性的等位基因和基因型发生率及其单倍型组合。使用从外周血中提取的DNA,通过基于PCR的RFLP方法确定基因型特征。结果。对于BstUI和MspI多态性,精神分裂症患者和肺癌患者与对照组之间的基因型和等位基因频率存在显著差异(P <.01)。基于单倍型频率的分析表明,癌症患者中存在BstUI-MspI 2-1单倍型(12%),而精神分裂症患者和对照组中不存在这种单倍型。仅在肺癌患者中,我们发现p53密码子72的A1等位基因显著减少(OR 0.23,95% CI 0.9 - 0.58)以及A1/A1纯合基因型(P <.0001,OR 0.19)。结论。本研究结果表明A1等位基因对肺癌有保护作用,并且p53 MspI多态性可能作为单一因素而非与BstUI多态性联合改变肺癌易感性。