Investigation of some DNA repair genes association in non small cell lung cancer.

Ribonucleoside-diphosphate reductase subunit M2, also known as ribonucleotide reductase small subunit, is an enzyme that in humans is encoded by the RRM2 gene and also Ribonucleoside-diphosphate reductase large subunit is an enzyme that in humans is encoded by the RRM1 gene. RRM1 is a gene important in determining tumor phenotype, but also induced the expression of PTEN tumor suppressor gene, cell migration, invasion and metastasis formation, and play a preventive role. ERCC2 DNA repair mechanism is associated in more than 20 genes involved in the NER pathway. The aim of this study is to investigate rs13181 ERCC2 (T>G) (Lys751Gln), rs12806698 RRM1 (-269C>A) and rs6759180 (located in the 5'UTR) RRM2 (10126436G>A) gene polymorphisms by using real time PCR technique in patients with NSCLC. 193 NSCLC cases and 141 healthy control cases were included in this study. A significant difference was found between rs12806698 RRM1 genotype distributions (*p: 0.034) and were determined increases the risk of disease approximately 3.044 times AA genotype having (*p: 0.014 OR: 3.044, 95%CI: 1.205-7,688). A significant difference was found between rs6759180 RRM2 genotype distributions (*p: 0.033) and were determined increases the risk of disease approximately 3.49 times GG genotype having (p: 0,009 OR: 3, 49, %95CI:1.291-9,482). It was found significant difference in serum 8-OHdG levels between patients and controls (*p: 0001).

Investigation of NF-κB1 and NF-κBIA gene polymorphism in non-small cell lung cancer.

Lung cancer is a complex, multifactorial disease which is the leading cause of cancer death in both men and women. NF-κB is a transcription factor which is known to affect the expression of more than 150 genes related to inflammation, lymphocyte activation, cell proliferation, differentiation, and apoptosis, as well as contributing to cell apoptosis and survival. However, NF-κBIA (IκBα) is the inhibitor of the transcription factor. The--94ins/delATTG polymorphism of the NF-κB1 gene promoter region which causes a functional effect and NF-κBIA 3'UTR A → G polymorphism has been shown to be related to various inflammatory diseases and cancer. Ninety-five NSCLC patients and 99 healthy controls were included in study. The NF-κB1-94ins/delATTG and NF-κBIA 3'UTR A → G polymorphism have been studied by using PCR-RFLP method. It was found that the NF-κB1 -94ins/delATTG DD genotype and D allele frequencies were higher in patients than healthy controls and the presence of the DD genotype has a 3.5-fold increased risk of the disease (P: 0.014). This study is the first to investigate the NF-κB1-94ins/delATTG and NF-κBIA 3'UTR A → G polymorphism together in the Turkish population. According to the results, the NF-κB1-94ins/del ATTG promoter polymorphism may have a role in lung carcinogenesis and prognosis.

Association between survivin gene promoter -31G/C and -644C/T polymorphisms and non-small cell lung cancer.

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This genetic variant has been associated with overexpression of survivin at both protein and mRNA levels in cancer cells. We examined promoter (-31G/C) genotype frequency in a patient group (N = 146), 77.4% GG, 18.5% GC, 4.1% CC, and in a control group (N = 98), 57.1% GG, 34.7% GC, 8.2% CC. These distributions were significantly different. Promoter (-644C/T) genotype frequency in the patient group was 40.4% TT, 48.6% TC, 11% CC, and in the control group it was 55.1% TT, 40.8% TC, 4.1% CC; these distributions were also significantly different. Individuals carrying the survivin 31 GC genotype and those carrying the survivin 644 CC genotype had a significantly decreased risk of having non-small cell lung cancer.

Isolated hypoglossal nerve palsy in a child.

We report an 11-year-old boy who had isolated hypoglossal nerve palsy one week after symptoms and signs of urticarial lesions. Neuroradiological examinations and other investigations for etiology of hypoglossal nerve palsy and urticaria were normal. We suggest that all patients with hypoglossal palsy must be carefully evaluated for atypical findings and etiologies.

The progression of maternal RSV antibodies in the offspring.

The concentrations of maternal anti-RSV IgG antibodies were followed in 49 healthy newborns over the first six months of life. At birth, 41 mothers (83%) tested positive for anti-RSV IgG and all of their babies carried maternal anti-RSV IgG. Anti-RSV IgG positivity dropped to 73% at 1 month, 6% at 3 months, and 2% at 6 months. Between 3 and 6 months, 8% did acquire RSV infection, half of them as acute bronchiolitis and half as non-specific respiratory infection. All of the patients who acquired clinical RSV disease had an antibody concentration of <20 RU/ml which may be the cut off value for protection.