Molecular biology reports
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Molecular biology reports · Dec 2012
Promoter hypermethylation in primary squamous cell carcinoma of the oral cavity and oropharynx: a study of a Brazilian cohort.
Epigenetic silencing of cancer-related genes plays an important role in oral/oropharyngeal squamous cell carcinoma (OSCC). We evaluated promoter hypermethylation of 4 cancer-related genes in OSCCs of a Brazilian cohort and determined its relationship with exposure to alcohol, tobacco, HPV infection and clinicopathological parameters. CDKN2A (cyclin-dependent kinase inhibitor 2A or p16), SFN (stratifin or 14-3-3 σ), EDNRB (endothelin receptor B) and RUNX3 (runt-related transcript factor-3) had their methylation patterns evaluated by MSP analysis in OSCC tumors (n = 45). ⋯ HPV (subtype 16) was detected in 3 out of 45 patients (6 %). Our findings indicate that HPV infection is uncommon and methylation is frequent in Brazilian OSCCs, however, EDNRB and SFN gene methylation are not suitable OSCC biomarkers due to indistinct methylation in tumoral and normal samples. In contrast, CDKN2A and RUNX3 genes could be considered differentially methylated genes and potential tumor markers in OSCCs.
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Molecular biology reports · Dec 2012
Meta AnalysisInterleukin-12B rs3212227 polymorphism and cancer risk: a meta-analysis.
IL-12 plays a very important role in the development and progress of cancer. IL-12B rs3212227 polymorphism has been reported and many studies have focused on the role of this polymorphism in various cancers. However, the association between IL-12B rs3212227 polymorphism and cancer risk remains controversial. ⋯ When stratified by cancer type, we found a significant increased risk in cervical and nasopharyngeal cancer (OR = 1.34, 95 % CI = 1.04-1.73; OR = 2.03, 95 % CI = 1.57-2.63, respectively). In the stratified analysis, we also observed a similar association in population-based studies (OR = 1.34, 95 % CI = 1.00-1.80), Asian populations (OR = 1.33, 95 % CI = 1.06-1.67) and European populations (OR = 1.54, 95 % CI = 1.04-2.28). According to the results of our meta-analysis, IL-12B rs3212227 polymorphism probably is associated with a high risk of cancer.
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Molecular biology reports · Dec 2012
Meta AnalysisAssociations between the FAS -670 A/G and -1,377 G/A polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis.
The aim of this study was to explore whether FAS -670 A/G and -1,377 G/A polymorphisms confer susceptibility to autoimmune rheumatic diseases. A meta-analysis was conducted on the associations between the FAS -670 A/G and -1,377 G/A polymorphisms and autoimmune rheumatic diseases using allele contrast, a recessive model, a dominant model, and an additive model. Thirteen articles with 21 comparison studies (16 on FAS -670 A/G and 5 on -1,377 G/A polymorphisms) including systemic lupus erythematosus (SLE), four systemic sclerosis, four Sjogren's syndrome, three rheumatoid arthritis (RA), one juvenile idiopathic arthritis, and one spondyloarthropathy were available for the meta-analysis. ⋯ Meta-analysis of the FAS -1,377 G/A polymorphism stratified by disease showed an association between the FAS -1,377 A allele and SLE (OR = 0.783, 95 % CI = 0.613-0.997, p = 0.047). Meta-analyses using the dominant model also showed a significant association in SLE (OR = 0.712, 95 % CI = 0.528-0.961, p = 0.027). This meta-analysis demonstrates that the FAS -670 A/G polymorphism confers susceptibility to rheumatic diseases in Asians and SLE and RA, and the FAS -1,377 G/A polymorphism is associated with SLE susceptibility.
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Molecular biology reports · Dec 2012
Interactions of interleukin-12A and interleukin-12B polymorphisms on the risk of intracranial aneurysm.
Several lines of evidence indicate that inflammatory processes play pivotal role in the development of intracranial aneurysm (IA). Recently, polymorphisms in the interleukin-12 (IL-12) gene were shown to be associated with immune-mediated inflammatory disease. The aim of this study was to investigate the interactions of IL-12A and IL-12B polymorphisms on the risk of IA in a Chinese population. ⋯ In the stratified analysis by gender, the IL-12B rs3212227 AC/CC genotypes had an increased risk of IA compared with the AA genotype in male patients (AC/CC vs. AA: OR = 4.63, 95 % CI: 1.92-11.16). These findings suggest that the IL-12A and IL-12B independently and jointly be involved in the susceptibility to IA.
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Molecular biology reports · Dec 2012
Phylogenetic relationship analysis of Iranians and other world populations using allele frequencies at 12 polymorphic markers.
The estimation of genetic distance between populations could improve our viewpoint about human migration and its genetic origin. In this study, we used allele frequency data of 12 polymorphic markers on 250 individuals (500 alleles) from the Iranian population to estimate genetic distance between the Iranians and other world populations. The phylogenetic trees for three different sets of allele frequency data were constructed. ⋯ The evaluation of genetic distance between Indians populations and Iranians was also performed. The Indian groups showed low genetic distance with others, but high genetic distance with the Iranians. This study could provide a new insight into the evolutionary history of the Iranian population.