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Showing 9 results for Polymorphism

Masoud Noroozianavval , Peghah Veisi, Mohammad Aghaeishahsavari , Hasan Argani, Nadere Rashtchizadeh, Amir Ghorbanihaghjo,
Volume 7, Issue 3 (9-2007)
Abstract

  Background & Objectives : Panel-reactive antibody (PRA) is a routine test to evaluate for sensitized human leukocyte antigens (HLA) before kidney transplantation. The present study evaluates the correlation of renin-angiotensin system (RAS) polymorphisms with the level of PRA in renal transplant candidates.

  Methods: This study included 108 renal transplant candidates. The current patients sera were screened by standard complement-dependent microlymphocytotoxicity technique. RAS polymorphisms were determined by polymerase chain reaction. PRA<10, 10-29, 30-49, and ≥50 considered as negative, mild, moderate, and highly positive PRA, respectively.

  Results: Twelve (11.1%) patients had positive PRA, among them 10 (83.3%) had mild and 2 (16.7%) of them had moderate PRA levels we had no highly positive PRA. Ninety-six of cases (88.9%) were negative for PRA. There was no significant correlation between discrete RAS polymorphisms (alone or together) and the degree of panel antibody reactivity (P>0.05).

 Conclusion: We suggest that none of the RAS polymorphisms could predict the positivity degree of PRA level.


Mohammad Aghaeishahsavari , Masoud Noroozianavval, Peghah Veisi , Hasan Argani , Nadereh Rashtchizadeh , Amir Ghorbanihaghjo, Sima Abedi-Azar, Amirmansoor Vatankah,
Volume 8, Issue 2 (6-2008)
Abstract

 Background & Objective: As renin-angiotensin system (RAS) activity could affect the severity of oxidative stress and inflammatory markers the effect of enalapril and losartan on these markers in renal transplant recipients (RTRs) with RAS polymorphisms was assessed.

 Methods: After determination of RAS genotypes including angiotensin converting enzyme (ACE I/D), Angiotensinogen (AGT M235T) and angiotensin II type 1 receptor (ATR1 A1166C) by PCR, seventy-six RTRs recruited to four groups randomly: first group (17 patients) and second group (24 patients) were treated with E (E+: 10mg/daily) and L (L+: 50 mg/daily) alone, respectively. The third group (17 patients as positive control) received E+L (E+L+: 10mg/daily + 50 mg/daily) and the 4th group (18 patients as negative control) received no medication (E-L-). Hs-CRP and total anti-oxidant (TA) as inflammatory and anti-oxidative markers were measured after 2 months. After 2 weeks as washout period, E group changed to L and vice versa as a cross-over design. They were followed for another 8 weeks and hs-CRP and TA were retested.

 Results: Following up the patients (after 2, 4 months of treatment) in treated groups revealed that hs-CRP and TA levels were significantly decreased and increased (consequently) in E+L+, L+, E+ groups (P<0.05). On analyzing the relationship between RAS polymorphisms with baseline hs-CRP and TA levels, CC genotype of ATR1 had lower hs-CRP levels (P=0.04). But none of the RAS polymorphisms could predict the anti-oxidative and anti-inflammatory response rate to the drugs (P>0.05).

 Conclusion: E and/or L reduce hs-CRP and increase TA regardless of the RAS genotypes.


Jalil Rashedi, Mohammad Asgharzadeh, Seyed Reza Moaddab, Mojtaba Amani, Mohammad Mazani,
Volume 13, Issue 4 (1-2013)
Abstract

  Background & Objectives: It is estimated that one third of the world’s population is infected by M. tuberculosis. Because of differences in immune system activity against the invasive microorganisms, the disease is developed only among 10% of them. Vitamin D metabolism and its receptor activity are important factors in human native immune system against tuberculosis. In the present study we investigated ApaI polymorphism of vitamin D receptor (VDR) gene and association with susceptibility to tuberculosis.

  Method: This study was performed on 84 cases with tuberclosis (male =50, female =34) and 90 controls (male =49, female = 41). DNA was extracted from cases and controls leucocytes and elected sequences amplified in polymerase chain reaction (PCR) procedure by using specific primers. ApaI polymorphism of VDR gene evaluated by RFLP technique on PCR products. Finally statistical analysis performed using Chi- square to compare genotype frequencies between cases and controls.

  Results: In case and control groups, AA genotype frequency were 34.5% and 33.3% respectively (OR=0.905, 95% CI 0.469-1.747, p = 0.766) and a genotype frequency in patients and control group were 15.47% and 13.3% respectively (OR=0.808, 95% CI 0.333 –1.961, p=0.637).

  Conclusion: In the present study we could not find any significant relationship between genotype frequency of ApaI (A/a) polymorphism in VDR gene and susceptibility to tuberculosis.


Hashem Yaghoubi, Mehdi Haghi, Samira Solhi,
Volume 13, Issue 4 (1-2013)
Abstract

  Background & objectives : CXCL5, also known as epithelial cell-derived neutrophil-activating peptide (ENA-78), is a chemokine that has a role in some diseases. CXCL5 blocks insulin signaling by activating the Jak2/STAT5/SOCS2 pathway. It is reported the association between -156G>C (rs352046) polymorphism in the promoter region and diabetes. The aim of this study was to examine whether there is an association between this polymorphism and diabetes mellitus in Ardabil province population.

  Methods : A total of 100 patients affected diabetes were recruited from Ardabil province population 100 healthy control subjects also were recruited from the same area. The region containing the CXCL5 - 156G>C polymorphism was genotyped by PCR amplification and restriction fragment length polymorphism analysis, and allele frequency data were analyzed using Fisher test.

  Results : The results show a higher frequency of carrying both the G/G and G/C genotype in patients with diabetes compared with healthy controls (p-value=0.01 and 0.006, respectively). In addition, the frequency of allele C was significantly increased (p-value = 0.028) in patients with diabetes (25.5%) compared with controls (12%).

  Conclusions : Our findings suggest a role of CXCL5 in the pathogenesis of diabetes. Also, replications in other populations with larger sample sizes are required to confirm these findings.


B Davoodi, Kh Onsory , M Heydari Nasrabadi,
Volume 15, Issue 2 (7-2015)
Abstract

  Background & objectives : Ovarian cancer is the most common female reproductive cancer which is caused due to the malignant transformation of ovarian cells. This type of cancer is the fifth most common cancer among women and the primary cause of cancer deaths in the world. Axin2 gene is a tumor suppressor gene of the Axin family in WNT cycle which is essential for embryonic development. WNT proteins in this pathway have important intermediary role in cell messaging and in primary and secondary development of the embryo. Axin2 gene is activated as a negative feedback to prevent excessive proliferation of cells with simultaneous activation of WNT messaging. The aim of this study was to find the frequency of mutation in rs1133683 region of exon 5 in Axin2 gene and its relation with the risk of ovarian cancer.

  Methods : In this case-control study, 100 patients with ovarian cancer together with equal number of same age as controls were collected from Imam Khomeini Hospital. DNAs were extracted from blood and tissue and then were investigated by PCR-RFLP. Data analysis was performed using software SPSS (version 19) using logistic regression.

  Results : The results of study of mutation in rs1133683 region of exon 5 in Axin2 gene between two groups of case and controls indicated that there is no significant association between CT genotype with ovarian cancer (OR=1.26, 95%CI 0.70-2.27,p=0.43). Also no association was observed between TT genotype of Axin2 gene and ovarian cancer risk (OR=1.56, 95%CI 0.49-4.96, p=0.44).

  Conclusion : Study of mutation in rs1133683 region showed that there was no association between TT genotype carriers of Axin2 gene and the risk of ovarian cancer.


Tannaz Fat-Hi , Morteza Bonyadi, Alireza Javadzadeh, Mohammadhossein Jabbarpoor Bonyadi ,
Volume 16, Issue 3 (10-2016)
Abstract

Background & objectives: Age-related macular degeneration (AMD) is a disease affecting the central vision and causing irreversible blindness in aging patients. AMD is a complex disease caused by the actions and interactions of multiple genes and environmental factors. Genomic region at chromosome 10q26 may have a bigger role in susceptibility to AMD. Age-related maculopathy susceptibility 2 (LOC387715/age-related maculopathy susceptibility 2(ARMS2)) gene at 10q26 is associated with the risk of AMD. Here we studied (A69S) rs10490924 polymorphism of LOC387715 gene in AMD patients from East Azerbaijan province of Iran.

Methods: In this case-control study, the association of G>T in LOC387715/ARMS2 (A69S) rs10490924 polymorphism was investigated in 63 patients suffering from AMD and 150 healthy age, sex and ethnicity matched unrelated people as control group from northwest of Iran by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

Results: Statistical analysis showed high frequency of TT genotype in AMD patients (34.92%) compared to those of control group (6.67%), (p value=0.000 OR=11.9). The frequency of heterozygotes (GT) was 32.67% in control group and 38.1% in the case group (p=0.422). The frequency of homozygotes (GG) was 60.66% in control group and 26.98% in the case group (p=0.000). Genotype analysis of LOC387715 like other studies in Chinese, Japan and a population in Iran revealed significant association in distribution between patients and controls.

Conclusion: The data suggest that individuals from East Azerbaijan carrying TT genotype in LOC387715 have 11.9 times more risk of developing AMD compared to those carrying non-TT genotypes.


Effat Seyedhashemi, Elham Niasti, Nima Farahmand, Mohammad Mazani, Abbas Yazdanbod, Firouz Amani, , Seyyed Saeid Hossini-Asl ,
Volume 19, Issue 4 (1-2019)
Abstract

 
Background & objectives: Gastric cancer has a very wide geographic distribution. Identification of the genetic factors involved in the cancer predisposition is very important. IL-1β as a pro inflammatory cytokine is involved in gastric acid secretion in the H. pylori infected individuals. This study was aimed to evaluate the role of IL-1β-511 polymorphism on the susceptibility to gastric cancer in residents of Ardabil province.
Methods: One-hundred patients affected with gastric cancer and 100 normal individuals were selected as case and control groups, respectively. After DNA extraction from peripheral blood samples, the presence of the polymorphism IL-1β-511 was determined via PCR-RFLP assay. The results were evaluated by agarose gel electrophoresis.
Results: Among cases, CC, CT, and TT genotypes were observed in 19%, 60%, and 21% of individuals, respectively. Also, the distribution of genotypes among the participated individuals in control group was 4%, 67%, and 29%, respectively. There was a significant difference (p<0.05) between case and control groups.
Conclusion: According to this study, there was a significant relationship between IL-1β 511C allele polymorphism and gastric cancer in patients with gastric cancer in Ardabil province. It is indicated that some of the polymorphisms in IL-1β cytokine are associated with gastric cancer, and this finding would be used as a predictive value.
Elahe Mamashli, Farnaz Seifi Skishahr, Marefat Siahkouhian, Manouchehr Iranparvar, Asadollah Asadi, Behzad Davarnia,
Volume 21, Issue 2 (7-2021)
Abstract

Background & objectives: Sex impacts the manner in which a person responds to such disease as susceptibility and progression. The aim of this study was to investigate the sex differences in the genotype distribution and allele frequency of some of the adiponectin gene polymorphisms and the comparison of the interaction of the studied polymorphisms and type 2 diabetes-related environment risk factors between males and females.
Methods: This study included 103 males and 79 females with type 2 diabetes and 94 healthy males and 61 healthy females for control. Genotyping was performed using amplification refractory mutation system-PCR (T-ARMS-PCR). Statistical analysis was done using SPSS-26.0. The interaction between SNP-SNP and SNPs-environmental factors was analyzed using MDR (version 3.0.2) software.
Results: Sex-genotype interaction effect was significantly associated only for triglycerides with SNP-11391G/A (p= 0.027). For SNP+45T/G, the difference genotypes were distinctly associated with hemoglobin A1c (p=0.024), body mass index (p=0.033) and body fat percentage (p=0.018). For +276G/T fasting insulin level detected a potential difference in genotypes (p=0.016). Regarding to the results of MDR analysis, the combination of fasting blood glucose, rs17300539 and sex was the best three-factor model. In this model, the distribution of patients according to sex is demonstrated that most men with GA and AA genotypes of -11391G/A had Hemoglobin A1C more than 8.5 while in women there was no relation to genotype found.
Conclusion: Sexual difference impact the interaction between adiponectin gene polymorphisms and environmental risk factors. According to the findings of this study, the effect of environmental risk factors on the progression of type 2 diabetes related to Adiponectin gene polymorphisms are demonstrated within the males more than females.
Zahra Moeinara, Elham Siasi, Robab Tabatabaeii,
Volume 23, Issue 2 (7-2023)
Abstract

Background & objective: The causes of Alzheimer's disease are currently unknown. Genetic and environmental factors can be effective in creating of this disease. In recent studies, one of the genes and its polymorphisms that was known to affect Alzheimer is SHARPIN. This study aimed to investigate the presence of rs34674752 polymorphism in the SHARPIN gene and its relation with Alzheimer's disease in the population of Iranian patients.
Methods: This study was performed on 50 people with Alzheimer's disease and 50 healthy controls. After blood sampling and DNA extraction, genotyping was done by Tetra ARMS PCR. The data was statistically analyzed.
Results: Results showed that the frequency of GG, GT and TT genotypes of rs34674752 polymorphism in control and patient groups was 100%, 0% and 0%, respectively. Both control and patient groups were in Hardy Weinberg equilibrium. There was no significant correlation between people's genotype and the possibility of Alzheimer's disease, and among the demographic factors, only the relationship between age group and the disease was significant (p=0.029).
Conclusion: According to the results of this study, there was no statistically significant association between the rs34674752 polymorphism in the SHARPIN gene and Alzheimer's disease in the studied Iranian population. To confirm the present study results, the investigation of populations with different societies and a larger quantity of samples are recommended.

 

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مجله دانشگاه علوم پزشکی اردبیل Journal of Ardabil University of Medical Sciences
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