Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma

Background: Tumor-specific, coordinate expression of cancer-testis (CT) genes, mapping to the X chromosome, is observed in more than 60% of non-small cell lung cancer (NSCLC) patients. Although CT gene expression has been unequivocally related to DNA demethylation of promoter regions, the underlying mechanism leading to loss of promoter methylation remains elusive. Polymorphisms of enzymes within the 1-carbon pathway have been shown to affect S-adenosyl methionine (SAM) production, which is the sole methyl donor in the cell. Allelic variants of several enzymes within this pathway have been associated with altered SAM levels either directly, or indirectly as reflected by altered levels of SAH and Homocysteine levels, and altered levels of DNA methylation. We, therefore, asked whether the five most commonly occurring polymorphisms in four of the enzymes in the 1-carbon pathway associated with CT gene expression status in patients with NSCLC.Methods: Fifty patients among a cohort of 763 with NSCLC were selected based on CT gene expression status and typed for five polymorphisms in four genes known to affect SAM generation by allele specific q-PCR and RFLP.Results: We identified a significant association between CT gene expression and the MTHFR 677 CC genotype, as well as the C allele of the SNP, in this cohort of patients. Multivariate analysis revealed that the genotype and allele strongly associate with CT gene expression, independent of potential confounders.Conclusions: Although CT gene expression is associated with DNA demethylation, in NSCLC, our data suggests this is unlikely to be the result of decreased MTHFR function. © 2013 Senses et al.; licensee BioMed Central Ltd

On the generalized multivariate Gumbel distribution

In this article, main characteristics, marginal, joint, and conditional inferences of a generalized multivariate Gumbel model are derived, and random vector generation is described. Distribution of the sum where summands come from a bivariate generalized multivariate Gumbel distribution is derived

A test for detecting etiologic heterogeneity in epidemiological studies

<div><p>Current statistical methods for analyzing epidemiological data with disease subtype information allow us to acquire knowledge not only for risk factor-disease subtype association but also, on a more profound account, heterogeneity in these associations by multiple disease characteristics (so-called etiologic heterogeneity of the disease). Current interest, particularly in cancer epidemiology, lies in obtaining a valid <i>p</i>-value for testing the hypothesis whether a particular cancer is etiologically heterogeneous. We consider the two-stage logistic regression model along with pseudo-conditional likelihood estimation method and design a testing strategy based on Rao's score test. An extensive Monte Carlo simulation study is carried out, false discovery rate and statistical power of the suggested test are investigated. Simulation results indicate that applying the proposed testing strategy, even a small degree of true etiologic heterogeneity can be recovered with a large statistical power from the sampled data. The strategy is then applied on a breast cancer data set to illustrate its use in practice where there are multiple risk factors and multiple disease characteristics of simultaneous concern.</p></div

Effect of chemotherapy on the quality of life in patients with lymphoma

Objective: Advances in chemotherapy have significantly prolonged the survival of patients with lymphoma and a significant percentage of patients may be cured. The assessment of the quality of life in patients undergoing chemotherapy is of growing interest. The aim of this study is to assess the effect of chemotherapy on quality of life in patients with lymphoma. Methods: All patients (n=49) diagnosed with stage I lymphoma in the Cukurova University Oncology Department from June 2000 to January 2001 received a quality-of-life questionnaire (EORTC QLQ C-30) before chemotherapy and after the second cycle of chemotherapy. Results: Significant improvement during treatment was found in some of the physical activities, emotional state, relief from pain and fatigue, dyspnea, anorexia, sleep, and the global quality of life. When chemotherapy, age, gender and lymphoma type were taken into account, the most important factor influencing the global quality of life was educational status. Conclusion: The results may be used to reassure patients who are reluctant to go through chemotherapy that they are likely to experience an improved quality of life compared to their situation before the treatment

Seroreactivity against PTEN-induced putative kinase 1 (PINK1) in Turkish patients with Behçet's disease.

Background. Behcets disease (BD) is a multisystem inflammatory disorder characterized by recurrent oral ulcers, genital ulcers and ocular inflammation, as well as skin, joint, vascular, pulmonary, central nervous system (CNS) and gastrointestinal tract manifestations. The etiopathogenesis of BD has not yet been identified; but it has generally been accepted that several environmental factors may induce an inflammatory, attack in genetically susceptible individuals. In this study, we aimed to identify antigens that could elicit high-titer IgG responses by the serological analysis of recombinant expression of cDNA libraries method (SEREX)

Seroreactivity against PTEN-induced putative kinase 1 (PINK1) in Turkish patients with Behcet's disease

Background. Behcets disease (BD) is a multisystem inflammatory disorder characterized by recurrent oral ulcers, genital ulcers and ocular inflammation, as well as skin, joint, vascular, pulmonary, central nervous system (CNS) and gastrointestinal tract manifestations. The etiopathogenesis of BD has not yet been identified; but it has generally been accepted that several environmental factors may induce an inflammatory, attack in genetically susceptible individuals. In this study, we aimed to identify antigens that could elicit high-titer IgG responses by the serological analysis of recombinant expression of cDNA libraries method (SEREX)