ABSTRACT
Background: Tumor necrosis factor-alpha [TNF-alpha] is an important cytokine in acute inflammatory response to infective factors. Based on investigation in different populations, it is thought that this response increases in patients with endometriosis due to the presence of cytokines such as TNF-alpha. This study aimed to examine the association of four TNF-alpha polymorphisms, namely -238G/A, -308G/A, -857C/T and -863C/A, with susceptibility to endometriosis in an Iranian population
Materials and Methods: We recruited 150 women with endometriosis and 150 women without endometriosis in this case-control study and collected 4 ml of blood from all subjects. After DNA extraction, the polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP]
Results: The allele frequency of TNF-alpha -863C/A in the case and control groups showed a significant difference [odds ratios [OR]=0.64, 95% confidence interval [CI]=0.41-0.99, P=0.047] but the result is not significant when Adjusting for multiple testing [P=0.188]. No significant difference in the allele frequencies of -238G/A [OR=1.07, 95% CI=0.51-2.25, P=0.862], -308G/A [OR=0.79, 95% CI=0.43-1.45, P=0.438] and -857C/T [OR=1.03, 95% CI=0.66- 1.61, P=0.887] was observed. We adjusted all four polymorphism genotypes by age and body mass index [BMI], however, no significant difference was detected. There was an association between the case and control and BMI when adjusting by age [OR=1.082, 95% CI=1.009-1.162, P=0.028]
Conclusion: For the first time the association of the four polymorphisms in the promoter region of the TNF-alpha gene with endometriosis has been conducted in women of Iranian origin. The present research reveals the -863 A allele may play a role in incidence of endometriosis among Iranian women. Development of endometriosis among those people with -863 A allele seems low. According to the results, the current study indicates that there might be a correlation between BMI and progression of endometriosis
ABSTRACT
Retinoblastoma is the most common intraocular tumor in childhood and mutation in the RB1 gene will trigger the tumorigenesis. So far, a wide range of the mutations along the length of RB1 gene have been reported. However, some could not be detected by common detection methods. In such condition, linkage analysis using microsatellite markers is suggested to trace unknown RB1 mutations in the affected family. The aim of the present study was to evaluate the heterozygosity rates and genotyping of three microsatellite markers near or inside of the RB1 gene. Totally, 120 unrelated healthy people from Fardis, Karaj, Iran were recruited and from each participant genomic DNA was extracted from 5 ml of peripheral blood. Three microsatellite markers D13S153, D13S156 and D13S128 located within or adjacent to the RB1 gene were selected for linkage analysis. The reliability of microsatellite markers and linkage analysis were investigated in 10 members of 2 families with familial retinoblastoma. Our results showed that heterozygosity rates for the three markers D13S153, D13S156 and D13S128 were 74, 70 and 78%, respectively. On the other hand, 2 and 36 out of 120 people were homozygote and heterozygous for all loci, respectively. Given the heterozygosity rates, it may be concluded that all microsatellite markers D13S153, D13S156 and D13S128 are informative and have a high rate of heterozygosity and sensitivity. Therefore, tracing the unknown RB1 mutated alleles using linkage analysis in Iranian family with familial retinoblastoma could be recommended by means of these three microsatellite markers
ABSTRACT
Neonatal sepsis [NS] is a common and life-threatening disorder in infants. Previous studies showed that interleukin-6 [IL-6] may be a valid non-invasive and rapid method for diagnosis of NS. We conducted this review to assess the validity of IL-6 for predicting NS. This was a systematic review with meta-analysis. Embase, Medline and Web of Science databases were searched between January 1990 and December 2009. The search terms used were [cytokine], [neonate], [sepsis] and [interleukin-6]. We used standard methods recommended for meta analyses of diagnostic test evaluations. The analysis was based on a summary ROC [SROC] curve. Meta-regression analysis was used to assess the effects of some confounding factors on the results of meta-analysis. Potential presence of publication bias was tested using funnel plots and the Egger test. Meta-analysis was performed on 13 publications including 353 infants with sepsis and 691 control infants. The pooled sensitivity and specificity of IL-6 was 0.79 and 0.84, respectively. The maximum joint sensitivity and specificity [i.e., the Q value] in SROC curve was 0.82 and the area under curve [AUC] was 0.89 [95% CI: 0.84-0.94]. Meta-regression analysis showed that the diagnostic accuracy of IL-6 was not affected by confounding variables. The evaluation of publication bias showed that the Egger test was not significant [P=0.07]. IL-6 seems to be a valid marker for predicting NS. It may be considered for early diagnosis of sepsis in neonatal care units