Journal of Arak University of Medical Sciences

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Evaluation of Prevalence of MTHFR (C677T) Gene Polymorphism in Preeclamptic in Chaharmahal Va Bakhtiari Province

Azar Jafari, Sharbanuo Parchami Barjui, Somaye Reiisi, Morteza Hashemzadeh Chaleshtori, Sepideh Miraj,
Volume 16, Issue 10 (1-2014)

Abstract

Background: Preeclampsia (PE) is a serious problem of pregnancy and its etiology is still unknown. The inheritance of preeclampsia is one of the theories regarding to the etiology of preeclampsia. Methylenetetrahydrofolatereductase (MTHFR) is a key enzyme in folate metabolism and the C677T polymorphism of the MTHFR gene is associated with decrease MTHFR activity, and therefore cause higher blood levels of homocysteine and leads to vascular disease that can be the reason of preeclampsia. The aim of this study was to evaluate the relationship between MTHFR gene C677T polymorphism with PE development in south-west of Iran.

Materials and Methods: This case-control study was performed in 129 preeclamptic pregnant women and 125 control individuals.The C677T polymorphism of the MTHFR gene was determined by PCR-RFLP method.

Results: The CC, CT and TT genotypes frequency of C677T polymorphism of MTHFR gene were 57.4, 38.8 and 3.9 percent in preeclamptic women and 53.6, 40 and 6.4 percent in control group. They were not significantly different (p=0.614). However, the frequency of TT genotype was higher in control group (p=0.36). There was not any significant difference in T allele distribution between preeclamptic women (23.3%) and control group (26.4%).

Conclusion: Our results showed that there was not any correlation between the C677T polymorphism and PE but the TT genotype of C677T polymorphism seems to be a protective factor for preeclampsia.

Study of the expression of SNX2 (Sorting nexin-2) in multiple sclerosis patient of RRMS comparing with health control

Fariba Bani Talebi Dehkordi, Somayeh Reiisi, Asghar Bayati, Parisa Mohammadi Nejad,
Volume 20, Issue 3 (6-2017)

Abstract

Abstract

Background: Multiple sclerosis (MS) is a chronic inflammatory disorder described by central nervous system (CNS) demyelination and axonal damage. While the cause of MS is still unknown, it is extensively accepted that novel drug targets need to attention. Retromers are protein complex that have an essential role in endosomal trafficking, and retromer dysfunction has been associated to several neurological disorders. Therefore, this study aimed to compare the expression of SNX2 gene as a part of retromer complex in MS patients with health individuals.

Materials and Methods: In this case-control study, 50 samples of cases of multiple sclerosis (MS) and 50 healthy controls were enrolled. Followed verifying disease, 3cc peripheral blood was given from all subjects. Total RNA was extracted and complementary DNA (cDNA) was synthesized. The relative gene expression was determined using quantitative real-time RT PCR (qRT-PCR) and evaluated by method.

Results: The expression of SNX2 gene was lower in MS patients compared with healthy controls and it was statistically significant (p< 0.05).

Conclusion: Our study showed that the expression of SNX2 is lower in multiple sclerosis disorder. Considering the functional role of SNX2 as a protein involved in trafficking process, SNX2 may affect receptor function or drug targeting. Therefore, supplementary studies should be done to elucidate the exact mechanism of action of the gene in cellular trafficking.

Overexpression of TRAF4 Gene in Ovarian Cancer Samples and Association with Metastasis and Poor Prognosis in Patients

Parvin Javdan, Somayeh Reiisi, Parisa Mohammadi Nejad,
Volume 21, Issue 1 (4-2018)

Abstract

Abstract
Background: Ovarian cancer is one of the common malignancies within gynecological cancers. Its lethality may be due to problems in distinguishing it at an early stage and lack of effective managements for patients with a progressive or recurrent status. Therefore, there is an essential need for prognostic biomarkers to diagnose or identifying mechanism of disease for effective treatment. It has been found out that, TRAF4 gene was significantly transformed in different cancers. Therefore, the aim of the present study was to investigate the TRAF4 gene expression in ovarian cancer.
Materials and Methods: In this study, 40 formalin fixed paraffin embedded tumoral tissues of ovarian cancer and 40 non-tumoral tissues were enrolled. Afterwards total RNA extraction and cDNA was synthesized, the relative gene expression was determined using quantitative real-time PCR (qRT-PCR) and evaluated by 2-∆∆ct method. Finally, the expression pattern was analyzed by statistical analysis.
Results: The results of recent study showed that TRAF4 expression was significantly increased in tumoral samples (p=0.0001). According to the study of demographic and clinopathology information with gene expression, there was seen a significant relationship between metastasis and up-regulation of gene. Also, there was a higher expression in TRAF4 gene in patient’s ≤ 48 years old.
Conclusion: According to different studies, it seems that TRAF4 over expression is likely due to amplification of gene copies in chromosomal zone in cancers. Considering the results of present study and the over expression of TRAF4 in ovarian cancer specimen, especially over expression in patients≤48 years old, TRAF4 gene can be considered as a diagnostic biomarker.

The Association of Genetic Variant rs8506C>T at miR-526b Binding Site in the LincRNA-NR_024015 Exon with Breast Cancer Risk

Fatemeh Tavakoli, Somayeh Reiisi,
Volume 23, Issue 2 (June & July 2020)

Abstract

Background and Aim: The long noncoding RNAs (lncRNAs) is an important type of RNAs that can regulate gene expression and, therefore, are involved in the development of various cancers. The genome-wide association study (GWAS) is used to identify phenotype-related loci within non-coding regions. However, the biological functions and exact relationships between phenotype-related loci and lncRNAs have not fully been identified. No study was found on the relationship between rs8506C>T polymorphisms in the lincRNA-NR_024015 exon and breast cancer susceptibility and clinical factors. Therefore, the present study aimed to evaluate the effect of polymorphism rs8506C>T on the breast cancer risk.
Methods & Materials: In this case-control study, participants were 120 patients with breast cancer, 120 healthy controls. The genetic variant was genotyped by using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR–RFLP) method. Interactions between the polymorphism and clinical factors were further evaluated, and Odds Ratio (OR) was measured for risk assessment.
Ethical Considerations: This study has been approved by the Research Ethics Committee at Shahrekord University of Medical Sciences (code:????) .
Results: There was a correlation between rs8506 C>T polymorphism and breast cancer risk in the dominant model (CC and CT+TT genotypes; P=0.027; OR=1.84; 95% CI: 1.067‐3.201). In the co-dominant model, CT genotype had a statistically significant association with breast cancer risk (P=0.038). Subjects with T allele in the rs8506 polymorphism had an increased risk of breast cancer (OR=1.69; 95% CI: 1.047-2.736; P=0.031). No relationship between rs8506 polymorphism and clinical factors including metastasis, tumor grade, and Human Epidermal Growth Factor Receptor 2 (HER2) status was observed.
Conclusion: Genetic variant rs8506 C>T polymorphism in the lincRNA-NR_024015 exon may contribute to the breast cancer risk. Allele T in this variant confers an increased risk of breast cancer. Further functional analyses are required to detect the detailed mechanism underlying the observed association.

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