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Showing 5 results for Polymorphism
The relationship between platelet glycoprotein VI T13254C polymorphism and acute myocardial infarction (MI)
A Fatemi, A Kazemi, Mm Peighambari, N Givtaj, H Bakhshandeh,
Volume 5, Issue 2 (9-2011)
Abstract

Background and Aim: Myocardial infarction (MI) is a major cause of morbidity and mortality worldwide. Epidemiological studies indicate that MI results from complex interactions between long-term environmental influences, concomitant disorders, and genetic susceptibility factors. Identification of genetic risk factors, particularly in premature MI, is very important. Since thrombosis plays a critical role in the pathophysiology of MI, recent studies focus on coagulation genetic polymorphisms. The critical role of platelets and their surface glycoproteins in the formation of occlusive thrombus leading to acute myocardial infarction is now well accepted. Platelets have two major receptors for collagen, glycoprotein I/IIa (integrin α2β1) and glycoprotein VI. In the present study, platelet GP VI T13254C polymorphism was chosen due to its potential association with altered platelet reactivity. The aim of the present study was to determine whether or not GP VI T13254C polymorphism was associated with premature acute myocardial infarction.

Materials and Methods: One hundred patients with premature acute myocardial infarction and 100 age-matched controls with normal coronary angiograms were studied. Genotyping was done using PCR followed by RFLP. Statistical analyses included chi-square, t-test and logistic regression model.

Results: The findings of the present study showed that the prevalence of T13254C polymorphism did not differ much between patient (38%) and control (33%) groups and that polymorphism was not associated with premature acute MI (P=0.46). Logistic regression analysis also indicated no association between this polymorphism and premature acute MI (P=0.20).

Conclusion: This study showed that there was no significant association between GP VI T13254C polymorphism and premature acute MI.


The Effect Of -401CT And -401CT Polymorphisms Of GGH Gene On Methotrexate Serum Level And Toxicity In Iranian Children With Acute Lymphoblastic Leukemia (ALL) Under Treatment In Ali Asghar Hospital In Tehran
Abolfazl Kalantari , Farhad Zaker, Shahla Ansari Damavandi , Heydar Sharafi , Seyed Amir Yazdanparast ,
Volume 8, Issue 5 (1-2015)
Abstract

Background and Aim: Acute lymphoblastic leukemia patients show differences in serum levels and toxicity associated with methotrexate after its treatment. Pharmacogenetics is an important determining factor for these differences. In this study, the effect of +452 C / T and -401C / T polymorphisms of GGH gene on serum levels and toxicity associated with methotrexate was studied. The aim of this study was to evaluate the effect of +452C / T and -401C / T polymorphisms of GGH gene on methotrexate level in serum and its associated toxicity in patients with acute lymphoblastic leukemia. Furthermore, the frequency of the above polymorphisms was investigated for the first time in Iran.

Materials and Methods: The prevalence of these polymorphisms was assessed in 83 Iranian patients with ALL using PCR and RFLP. The relationship between the polymorphism and serum methotrexate levels and its toxicity was estimated by calculating the Odds Ratio.

Results: No correlation was found between +452CT polymorphism and serum levels of methotrexate and methotrexate-related toxicity. -401CT polymorphism was found to be correlated with methotrexate-related toxicity leading to thrombocytopenia (95% CI= 0.009-0.019, odds ratio=0.265) and leukopenia (95% CI = 0.021-0.042, odds ratio = 2.182) in consolidation phase of the treatment.

Conclusion: Evaluation of patients for methotrexate-related polymorphism of GGH gene may be useful in selecting the appropriate dose of methotrexate and reducing the toxic side effects associated with its administration.


rs2228480 Polymorphism In ESR1 Gene And Risk Of Breast Cancer
Sakineh Abbasi , Patimah Ismail , Cyrus Azimi , Fariba Nabatchian, Samira Kalbasi ,
Volume 8, Issue 6 (3-2015)
Abstract

Background and Aim: ESR1 gene polymorphism has been found to be associated with breast cancer and clinical features of the disease in Caucasians. Genomic data for ESR1 in either population is therefore of value in the clinical setting for that ethnic group. In this study association of polymorphism in ESR1 gene with breast cancer risk was investigated.

Materials and Methods: A case-control study was conducted to establish a database of ESR1 polymorphisms in Iranian population. The ESR1 gene was scanned in Iranian patients newly diagnosed with invasive breast tumors, (150 patients) and in healthy individuals (147) (healthy control individuals). PCR single-strand conformation polymorphism technology and direct sequencing was performed.

Results: The frequency of heterozygote genotype in exon 8 (ACG → ACA / ) was significantly higher in breast cancer patients (48.0%) than in control individuals (1.4%). We found that mutant allele (ACA) was significantly more common in breast cancer patients with age at menarche

Conclusion: Our data suggest that ESR1 polymorphisms are correlated with various aspects of breast cancer in Iranian ESR1 genotype, as determined during pre-surgical evaluation, might represent a surrogate marker to increase predicting breast cancer in Iranian population.


Study of Association between Factor XI Polymorphism and Recurrent Miscarriage in Iran Helal Infertility Center (Rouyesh) Patients
Sonia Hajizadeh, Hamid Choobineh, Azadeh Omidkhoda, Shaban Alizadeh, Mohammad Jafar Sharifi, Zeinab Kavosh,
Volume 13, Issue 3 (9-2019)
Abstract
Background and Aim: Recurrent pregnancy loss(RPL) is known as two or three pregnancy losses before 20th week of pregnancy. RPL accounts for 5% of abortions in women and has a devastating effect on the marital status of families. One of the reasons for RPL is hemostatic complications; thus, we studied the correlation between factor XI polymorphism and RPL in patients who referred to Helal Infertility Center(Rouyesh).
Material and Methods: In this case-control study, 144 patients with a history of miscarriages(at least two) and 150 healthy female with a minimum of one successful birth and no abortion were enrolled. DNA extraction was taken from leukocytes of whole blood. To investigate the polymorphisms, polymerase chain reaction was run, and the presence of polymorphism was analyzed using RFLP method.
Results: Regarding FXI polymorphism, TT, CT, and CC genotype frequencies were 59.7%, 36.1%, and 4.2%, respectively. In healthy control group, the TT, CT, and CC frequencies were 45.3%, 49.4%, and 5.3%, respectively.
Conclusion: TT homozygote genotype could be an RPL risk factor(p<0.05); however, in its CT heterozygote form, C allele could have a protective role against RPL.
 

Relationship between FSH Receptor’s Exon 10 Polymorphisms with IVF Results in Iranian Women
Maliheh Javadi-Arjmand, Elia Damavandi, Hamid Choobineh, Majid Kabuli, Mohsen Ghadami,
Volume 18, Issue 3 (7-2024)
Abstract
Background and Aim: Follicle stimulating glycoprotein hormone (FSH) exerts its functions through its receptor (FSHR). In women of reproductive age, this hormone causes the growth and development of follicles in the ovary during the follicular phase of the menstrual cycle. This hormone is widely used in the treatment of infertility. Several polymorphisms have been reported so far in the FSHR gene, which are effective in the ovarian response, but the FSHR gene has two very common single nucleotide polymorphisms at positions 680 and 307 in exon 10. One of them at position 307 changes the amino acid threonine to alanine and the other at position 680 changes asparagine to serine. The polymorphism at position 307 of exon 10 is in the extracellular region of the receptor and the binding site of the hormone, which can be affected in response to internal and external FSH stimulation. These two SNPs have been reported to be associated with various ovarian responses and IVF outcomes in different populations. Different studies have particularly focused on rs6166 (p. Asn680Ser), but this study was conducted to investigate the possible association between rs6166 and rs6165 (p. Thr307Ala) and the IVF outcome.
Materials and Methods: After blood sampling and DNA extraction, the two polymorphisms in exon 10 of FSHR gene were analyzed using PCR-RFLP method in 120 women randomly assigned to two equal groups including IVF successful and IVF unsuccessful infertile women. The selection of patients to enter the study as well as the criteria for successful IVF are described in the text. In order to confirm the results, DNA sequencing was done for some selected samples. Finally, the results were analyzed using SPSS software.
Results: No significant differences were found in either SNPs between successful IVF and unsuccessful IVF patients in allelic frequencies (P-value>0.05).
Conclusion: Despite the different results of the studies conducted regarding the effect of FSHR gene polymorphisms (rs6165 and rs6166) in different populations, considering the lack of significant difference in the frequency of the above polymorphisms in the studied population, it is concluded that these two polymorphisms cannot be used to predict the outcome of IVF in Iranian infertile women.

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