ABSTRACT
Background: Human arylamine N-acetyltransferase 2 [NAT2] gene has a key role in xenobiotic metabolism through the conjugation of acetyl group to xenobiotic substances. NAT2 has been suggested as a susceptibility factor in endometriosis; however, the results of studies have been controversial. In this study, the association of NAT2 polymorphisms with susceptibility to endometriosis was evaluated in an Iranian population
Methods: This is an association study and totally 141 women with diagnosis of endometriosis and 158 healthy women as control group were analyzed for NAT2 gene polymorphisms [C481T, A803G, G857A and G590A] by PCR-RFLP methods
Results: The 590 GA genotype was significantly lower [p=0.001; OR=0.42, 95% CI: 0.25-0.71] in the patients [38.3%] than the control group [55.1%]. The 590A allele was significantly lower [p=0.033; OR=0.69, 95% CI: 0.49-0.79] in the patients [31.2%] compared with the controls [39.6%]. Analysis of haplotypes showed that NAT2 481C, 803A, 590A, 587A combination was significantly different between the case and control women [p= 0.029; OR=3.11, 95% CI: 1.13-8.52]
Conclusion: The NAT2 G590A SNP may be associated with susceptibility to endometriosis and the 590A allele may have a protective role in development of endometriosis. The NAT2 481C, 803A, 590A, 587A haplotype was associated with a higher risk of endometriosis in Iranian population
ABSTRACT
Background: Nonsyndromic cleft lip and/or palate [NSCL/P] is the most common orofacial birth defect, often attributed to ethnic and environmental differences. Up to now, linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL/P. The WNT genes including WNT3 are strong candidates for NSCL/P, since they are involved in regulating mid-face development and upper lip fusion. This study tested association of the WNT3 polymorphisms, rs- 3809857 G/T and rs9890413 G/A, with the risk of NSCL/P in a population of Iranian infants
Methods: The allelic and genotypic frequencies for each participant were determined in 113 unrelated Iranian subjects with NSCL/P and 220 control subjects using PCR and restriction fragment length polymorphism [RFLP] methods. A p-value of
Results: The WNT3 rs3809857 GT genotype was significantly lower [p=0.039, OR=0.55, 95% CI=0.30-0.97] in the NSCL/P [21.2%] than the control group [30.42%]. For the WNT3 rs9890413 G/A polymorphism, neither genotype nor allele frequencies were significantly different between the case and control groups
Conclusion: Our results indicated that the WNT3 rs3809857 GT genotype may have a protective effect against NSCL/P in Iranian population
ABSTRACT
Background: Possible mechanisms of Alzheimer Disease [AD] such as inflammation and oxidative stresses in the brain led us to investigate potential AD therapeutics of Melilotus officinalis, an herbal extract, with possible role as an anti-inflammatory and anti-oxidant agent. Among different genes which had important role in Sporadic AD [SAD], three genes including DAXX, NFkB and VEGF have shown significant statistical diversity in the brains of Alzheimer patients
Methods: These genes were chosen to be investigated for neuroprotective effects of the extract by comparing the expression level in the hippocampus of Sporadic AD [SAD] rat model using quantitative polymerase chain reaction [qPCR] in the treated and untreated groups. In addition, therapeutic effects at the behavioral, learning and memory level by Morris Water Maze [MWM] test were investigated
Results: The results represented significant decreased expression in Daxx, Nfkb and Vegf genes in the SAD rat's model treated with the herbal extract compared to the Streptozotocin-induced [STZ-induced] rats. Furthermore, no significant changes were seen in swimming distance and time for finding the hidden platform in the herbal-treated compared to the STZ-induced group. In memory level, no significant changes were observed among treated and untreated groups
Conclusion: It seems that the herbal extract may have significant effect on Alzheimer-related gene expression changes but not on clinical levels
ABSTRACT
Background: Endometriosis influenced by both genetic and environmental factors. Associations of glutathione S-transferases [GSTs] genes polymorphisms in endometriosis have been investigated by various researchers; however, the results are not consistent
Objective: We examined the associations of GSTM1 and GSTT1 null genotypes and GSTP1 313 A/G polymorphisms with endometriosis in an Iranian population
Materials and Methods: In this case-control study, 151 women with diagnosis of endometriosis and 156 normal healthy women as control group were included. The genotyping was determined using multiplex PCR and PCR- RFLP methods
Results: The GSTM1 null genotype was significantly higher [p=0.027] in the cases [7.3%] than the control group [1.3%]. There was no significant difference between the frequency of GSTT1 genotypes between the cases and controls. The GSTP1 313 AG genotype was significantly lower [p=0.048] in the case [33.1%] than the control group [44.4%]
Conclusion: Our results showed that GSTM1 and GSTP1 polymorphisms may be associated with susceptibility of endometriosis in Iranian women
ABSTRACT
Background: Sporadic Alzheimer's Disease[SAD] is caused by genetic risk factors, agingand oxidative stresses. The herbal extract of Rosa canina [R. canina], Tanacetumvulgare [T. vulgare]and Urtica dioica [U. dioica]has a beneficial role in aging, as ananti-inflammatory and anti-oxidative agent. In this study, the neuroprotective effectsof this herbal extract in the rat model of SAD was investigated
Methods: The rats were divided into control, sham, model, herbal extract -treated andethanol-treated groups. Drug interventions were started on the 21st day after modelingand each treatment group was given the drugs by intraperitoneal [I.P.] route for21 days. The expression levels of the five important genes for pathogenesis of SAD includingSyp, Psen1, Mapk3, Map2 and Tnf-alphawere measured by qPCR between thehippocampi of SAD model which were treated by this herbal extract and controlgroups. The Morris Water Maze was adapted to test spatial learning and memoryability of the rats
Results: Treatment of the rat model of SAD with herbal extract induced a significantchange in expression of Syp [p=0.001] and Psen1 [p=0.029]. In Morris Water Maze,significant changes in spatial learning seen in the rat model group were improved inherbal-treated group
Conclusion: This herbal extract could have anti-dementia properties and improve spatiallearning and memory in SAD rat model
ABSTRACT
Cleft lip with or without cleft palate [CL/P] is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha [TGFA] is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI [rs11466297] and RsaI [rs3732248], with CL/P was evaluated in an Iranian population. The frequencies of BamHI and RsaI variations were determined in 105 unrelated Iranian subjects with nonsyndromic CL/P and 218 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. The BamHI AC genotype was significantly higher [p=0.016] in the patients [12.4%] than the control group [5.0%]. The BamHI C allele was significantly higher [p=0.001; OR=3.4, 95% CI: 1.6-7.4] in the cases [8.0%] compared with the control group [2.5%]. Our study showed that there was an association between the TGFA BamHI variation and nonsyndromic CL/P in Iranian population
ABSTRACT
Emergence of drug resistance has brought major problems in chemotherapy. Using nutrients in combination with chemotherapy could be beneficial for improvement of sensitivity of tumors to drug resistance. Soybean-derived isoflavones have been suggested as chemopreventive agents for certain types of cancer, particularly breast cancer. In this study, the synergistic effects of soy isoflavone extract in combination with docetaxel in murine 4T1 breast tumor model were investigated. In this study, mice were divided into 4 groups [15 mice per group] of control, the dietary Soy Isoflavone Extract [SIE, 100 mg/kg diet], the Docetaxel [DOCE, 10 mg/kg] injection and the combination of dietary soy isoflavone extract and intravenous docetaxel injection [DOCE+SIE]. After 3 injections of docetaxel [once a week], 7 mice were sacrificed to analyze MKI67 gene and protein expressions and the rest were monitored for diet consumption, tumor growth and survival rates. In DOCE+SIE group, diet consumption was significantly higher than DOCE group. While lifespan showed a trend towards improvement in DOCE+SIE group, no significant difference was observed among the 4 studied groups. Tumor volume was not significantly affected in treated groups. A lower but not significant MKI67 protein expression was detected in western blot in DOCE+SIE group. The mRNA expression was not significantly different among groups. The results suggest that the combination of soy isoflavone as an adjunct to docetaxel chemotherapy can be effective in improving diet consumption in breast cancer
Subject(s)
Animals, Laboratory , Glycine max , Isoflavones , Plant Extracts , Taxoids , Mice , Breast NeoplasmsABSTRACT
Familial Idiopathic Basal Ganglia Calcification [IBGC] is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC2OA2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including the SPP2 gene, may play a role in inhibiting calcification. Totally, 22 members of a three generational Iranian family affected by IBGC, with an autosomal dominant pattern of inheritance were included in this study. DMA was extracted from the whole blood using standard salting out method. To find a mutation responsible for IBGC, we sequenced the coding region of SLC2OA2 as well as promoter and coding region of SPP2 in the index subject of IBGC-affected family. Pathogenic mutation was found neither in SLC2OA2 nor in SPPZ Our results strengthen genetic heterogeneity of this condition. Additional mutation studies are necessary to find a gene or genes responsible for IBGC in this affected family
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