[Association of D19H polymorphism of ABCG8 gene with gallstone susceptibility]

Increased level of cholesterol may be saturated in the gall bladder resulting in gall stone. Product of ABCG8 gene is responsible for evacuation of cholesterol from cells and made dissolved cholesterol in bile. It appears that genetic changes of this gene can alter its function and make gall stone. This study was designed to evaluate association of D19H polymorphism of ABCG8 gene with gallstone susceptibility. This was a case-control research that was conducted on 100 gallstone patients and 106 healthy controls without any family history of gallstone. For DNA extraction, salting out method has been used and for detection of alleles in polymorphic region, PCR-RFLP has been used. Heterozygote genotype in this polymorphic region [G/C] had association with gallstone formation [OR=7.14; 95%CI=3.47-14.66; P<0.001]. We found that people with heterozygote genotype had more than 7 times susceptibility to gall stone compared to healthy controls. This study confirms previous studies about D19H polymorphism on ABCG8 gene and shows importance of this SNP in different populations. For this reason, we can use analysis of this region to predict susceptibility to gall stone formation

Molecular prevalence of JC virus in Tehran, Iran

Since data about prevalence of JC virus in Iranian population is scarce, this study was designed to evaluate the prevalence of JC virus in healthy individuals who had attended Fajr hospital and Farjam clinical laboratory in Tehran, Iran. JC virus is the causative agent of progressive multifocal encephalopathy [PML] in individuals with suppressed immune system. There are some evidences that this virus is responsible for some forms of cancers for example colorectal and gastric cancers in humans. Urine samples from 133 healthy individuals older than 18 years old were collected and after extraction of viral DNA, PCR was performed to determine the presence of virus. Results of the test and demographic data of subjects were entered into SPSS program and were analyzed by it. 71 subjects were male and 62 individuals were female. Mean age of the population was 42.23 +/- 13.47. From the total number of 133 subjects, 51 [38.3%] individuals were positive for the presence of JC virus. Gender had statistically significant relationship with JC virus presence [p= 0.042]. Age was not significantly related to JC virus presence status [p= 0.3]. Obtained rate of JC prevalence in this study is similar to the results of studies in India and Philippine. Because of this virus's role in AIDS and the role of this virus in gastrointestinal cancers have been revealed in recent years, the more extended studies on the prevalence of this virus in different populations in Iran is necessary

role of Kras mutations and MSI status in diagnosis of colorectal cancer

The aim of the current investigation was to examine the profile of Kras mutations accompanied with MSI [microsattelite instability] status in polyps and colorectal carcinoma tissues in an Iranian population. Kras mutations in colorectal cancer cause resistance to anti-Epidermal Growth Factor Receptor [EGFR]. So it can be considered as a true indicator of EGFR pathway activation status. Kras mutations can be detected in approximately 30% to 40% of all patients with colorectal cancer. The most hot spot of the gene is located in exons 2 and 3. In this study we examined exons 2 and 3 Kras gene using polymerase chain reactions and subsequent sequencing of the exons in 95 patients with sporadic colorectal cancer including 48 tumors and 47 polyps. This study was performed using biopsy samples from the patients. We sequenced the Kras gene in a panel of human colorectal tumors and polyps in addition to detecting MSI status using fluorescent technique. We could detect 6 mutations in tumors including 5 mutations in codon 12 and one mutation in codon 13. Moreover, in polyps 2 mutations were determined in codon 13 and one in codon 12. Microsatellite instability assay revealed the presence of 5 and 6 MSI in tumors and polyps, respectively. Among the MSI mononucleotide markers, NR-21 marker demonstrated the most frequency [60%] in the both groups. Our findings showed that probably the profile of mutations in tumors is not entirely compatible with the pattern of mutations in polyps. However, just one of the mutations, Gly12Asp, was similar in both groups