Showing 57 results for Polymorphism
Zeynab Hosseinpour, Zivar Salehi, Soheila Talesh Sasani, Keyvan Aminian,
Volume 20, Issue 1 (4-2017)
Abstract
Abstract
Background: Ulcerative colitis (UC) is a chronic disease that specifically affects the mucosa of the rectum and colon. The pathogenesis of UC is not well defined, but it is proposed that genetic and environmental factors result in an aberrant immune response to a subset of commensal enteric bacteria.The aim of this study was to investigate whether miR-34b/c rs4938723 T/C polymorphism is associated with UC risk.
Materials and Methods: Blood samples were collected from 50 patients diagnosed with UC and 100 healthy control subjects. Genomic DNA was extracted from peripheral blood. Genetic variation of miR34b/c was determined by tetra-primers ARMS-PCR (amplification refractory mutation system-polymerase chain reaction). All statistical analyses were conducted using the MedCalc version 12.1.
Results: There was a significant difference in genotype and allele distributions between cases and controls. It was observed that the CT heterozygotes had a 2.29-fold increase in risk of UC (OR=2.29, 95%CI=1.08-4.82, p=0.02).
Conclusion: It is suggested that the miR34b/c (rs4938723 T>C) polymorphism may be associated with the risk of UC. However, larger studies with more patients and controls are needed to confirm this result.
Rokhsareh Meamar, Maryam Ostadsharif, Ahmad Chitsaz, Mojgan Asadian Ghahfarokhi, Mehdi Kazemi, Seyed Morteza Javadirad,
Volume 20, Issue 4 (7-2017)
Abstract
Abstract
Background: Vitamin D was recognized with protective effects on nerve cells of Parkinson’s patients. The relationship between several VDR gene polymorphisms and age and risk of the disease was determined. Also, the relationship between VDR gene FOKI genotypes and PD was specified. The main goal of this study is to evaluate the relationship between polymorphic loci of FokI, TaqI, BsmI, ApaI and serum factor related to vitamin D metabolism in Isfahan population.
Materials and Methods: Case- control study of 125 Parkinson’s patients with their matched control individuals has been investigated based on Parkinson's disease brain bank criteria of Great Britain. After receiving consent, serum levels were measured. The genetic material was isolated by Miller protocol and polymorphisms has been analyzed and confirmed by repeated PCR-RFLP.
Results: Comparing the five serum factors between healthy subjects and patients with Parkinson's disease, we have shown a significant reduction in the levels of calcium, ALP and PTH (p<0.01). However, none of the levels of vitamin D and phosphate show any kind of significant relationship between patients and control subjects. Concentration of blood serumic factors including calcium and PTH showed p-values less than 0.01 between Parkinson's patients and control subjects according to different genotypes containing FokI-F allele,ApaI-A allele and BsmI-b allele .
Conclusion: The result of this study showed that each of FokI and ApaI recessive alleles can influence serum calcium and parathyroid hormone between healthy individuals and Parkinson's patients significantly.
Sara Alidadiani, Zivar Salehi,
Volume 20, Issue 6 (9-2017)
Abstract
Abstract
Background: Implantation of an embryo involves a complex sequence of signaling events, consisting of a large number of molecular mediators such as ovarian hormones, cytokines, adhesion molecules and growth factors. Vascular endothelial growth factor (VEGF) is an important angiogenic factor. VEGF is believed to play an important role in the process of implantation. The aim of this study was to evaluate the association of VEGF +405C/G polymorphism and the clinical outcomes of women who underwent IVF-ET procedures.
Materials and Methods: One hundred women with previous IVF-ET failures and 100 pregnant women as controls were genotyped for VEGF +405 C/G by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was performed using the MedCalc software.
Results: Our results indicated a higher prevalence of the VEGF +405 GG genotype and G allele in patients with history of IVF-ET failure (OR=6.90; 95%CI=2.75-17.29; p<0.0001, OR=2.5; 95%CI=1.66-3.76, p<0.0001).
Conclusion: The present study revealed that the VEGF +405 GG genotype was associated with an increased risk of IVF-ET failure. However, further studies in larger populations including other genetic factors are required to achieve a definitive conclusion.
Zahra Sadeghi, Ahmad Ebrahimi, Fatemeh Davari Tanha, Sayed Yousef Seyedena,
Volume 20, Issue 7 (10-2017)
Abstract
Abstract
Background: Ectopic pregnancy is a type of pregnancy in which implantation of zygote occurs out of the uterine cavity. One of the most important problems is bleeding. On the other hand, Plasminogen Activator Inhibitor-1(PAI-1) gene is one of the involved factors in unsuccessful pregnancies, and 4G/5G polymorphism is the most common changes of this gene. So, it is important to study the prevalence of these changes in this gene in women with ectopic pregnancy.
Materials and Methods: In this case-control study, 100 Iranian women with ectopic pregnancy and 101 Iranian women with the normal pregnancy were selected. After blood sampling, ARMS PCR method has been used for detection 4G/5G polymorphism and data were analyzed by statistical analysis.
Results: In this study, 4G allele with 70.79% prevalence and 5G allele with 63.5% prevalence are the most common alleles for the control and case group, respectively. 4G/4G and 4G/5G genotypes in the control group and 4G/5G and 5G/5G genotypes in the case group are prevalent. An Armitage test found p<0.05 for both alleles, showing 4G allele (p= 1.524e-10; OR= 0.262) has decreasing effect and 5G allele (p= 1.524e-10; OR= 3.822) has increasing effect in ectopic pregnancy.
Conclusion: According to the findings, 5G allele and 4G/5G and 5G/5G genotypes have increasing effect, 4G allele and 4G/4G genotype have decreasing effect in ectopic pregnancy. So, we could consider 5G allele as a risk factor of ectopic pregnancy in this study.
Elahe Kohan, Leila Kohan, Maryam Maghbol,
Volume 20, Issue 8 (11-2017)
Abstract
Abstract
Background: Male infertility is a multifactorial disease resulting from the interaction between the genetic and environmental factors. Spermatogenic Failure accounts for more than half of male infertility cases. Heat shock proteins (HSPs) are the molecular chaperones that are involved in different developmental stages of spermatogenesis. The current study was planned to investigate the role of HSPA1B rs6457452 genetic variants in male infertility.
Material and Methods: This case control study was conducted on 516 subjects consisted of 308 patients with idiopathic male infertility and 208 control subjects. After DNA extraction from peripheral blood, genotype determination was done by Tetra-ARMS PCR method. Logistic regression analysis was used to estimate the association between the polymorphism and male infertility.
Results: A significant difference was observed in genotype distributions between cases and controls. Results showed individuals with TC (OR=1.552, 95%CI: 1.032-2.334, p=0.035) and TT (OR=2.746, 95%CI: 1.153-6.545, p=0.023) genotype had an increased risk of male infertility. Also, there was a significant association between T allele (OR=1.695, 95%CI: 1.220-2.355, p<0.001) and male infertility.
Conclusion: This study showed for the first time that HSPA1B rs6457452 polymorphism is associated with infertility risk in Iranian men and the T allele may act as a dominant allele for increasing the risk of male infertility.
Mahsa Kazemi Roodsari, Farhad Mashayekhi,
Volume 20, Issue 9 (12-2017)
Abstract
Abstract
Background: Matrix metalloproteinases (MMPs) are vital for the degradation/remodeling of the extra-cellular matrix, and are involved in spiral artery formation and invasion of endometrium during implantation. Tissue inhibitor of metalloproteinase 1 (TIMP1), is expressed in the several tissues of organisms and inhibits MMP activity. The aim of this investigation was to study the association between single-nucleotide polymorphism (SNP) in the TIMP1 (rs4898) (372 T/C) with in vitro fertilization and embryo transfer (IVF-ET) outcome by AS-PCR.
Materials and Methods: A total number of 200 blood samples including 100 IVF negative and 100 IVF positive (control) were collected in this study. DNA was extracted for TIMP1 genotyping. The genotype and allele frequencies of 372T/C polymorphism were examined by Allele-Specific PCR.
Results: The genotype frequencies of CC, CT and TT in 372 T/C polymorphism of TIMP1 gene in IVF- samples were 1%, 98% and 1%, respectively, while for IVF+ group were 7%, 91% and 2%, respectively (p=0.07). The allele frequencies of C and T in the IVF- were 50%, 50%, respectively and in IVF+ were 47.5%, 52.5%, respectively. The genotype and allele frequencies of TIMP1 rs4898 (372 T/C) did not differ between the patients and the control group (p=0.07 and p=0.68, respectively).
Conclusion: The results of this study indicate that SNP 372T/C of TIMP1 may not be associated with IVF-ET outcome in this population. Further studies with larger numbers of patients and controls are needed to confirm our results.
Bahareh Babaei Houlari, Zivar Salehi,
Volume 20, Issue 10 (1-2018)
Abstract
Abstract
Background: Successful pregnancy depends on the ability of the embryo to achieve appropriate extent of trophoblastic proliferation and invasion into maternal endometrium as well as, once implanted, to induce its own blood supply. Beta Human chorionic gonadotropin (β-hCG), enhances blastocyst implantation, uterine vascularization, and angiogenesis, as well as regulates maintenance of uterine quiescence and immunological adaptation during pregnancy. The β-subunit of hCG is encoded by CGB3, CGB6, CGB5, CGB7 and CGB8 genes. The aim of this study was to evaluate the association of CGB5-G/C polymorphism and the clinical outcomes in women who underwent IVF-ET procedures.
Materials and Methods: A total of 200 patients undergoing IVF-ET (100 patients with positive and 100 patients with negative IVF-ET outcome) were included in this study. Genotyping of CGB5 at -155G/C polymorphic site was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was performed using the MedCalc software.
Results: Our findings show that the CC genotype of the CGB5 -155G/C polymorphism is associated with decreased risk of IVF-ET failure (OR=0.29; 95%CI=0.1-0.85; p=0.02). However, the allelic distribution of the CGB5 -155G/C is not significantly different between two groups (χ2=1.46; p=0.22).
Conclusion: The results of this study suggested that CGB5 (-155G/C) CC genotype has a protective effect on IVF-ET outcome. More studies with larger sample sizes on different populations are necessary to elucidate the underlying mechanisms which can explain the associations found between the GGB5 gene polymorphisms and IVF-ET outcome.
Bita Kaviani, Hossein Sazegar, Noosha Zia-Jahromi, Farzane Mohamadi Farsani,
Volume 20, Issue 11 (2-2018)
Abstract
Abstract
Background: The aim of this study is to investigate the role of rs137852599 single-nucleotide polymorphism in the androgen receptor coding gene on drug resistance against treatment with Enzalutamide in individuals diagnosed with prostate cancer.
Materials and Methods: In this case-control study, the ARMS-PCR analysis was conducted on androgen receptor coding gene in 50 patients diagnosed with prostate cancer with drug resistance and on 50 patients diagnosed with prostate cancer without drug resistance. The statistical analyses were performed using the GeNePop server and then the results were investigated by the SISA server.
Results: The allele frequencies of A and C alleles in rs137852599 were 0.78 and 0.22 for drug resistant and 0.94 and 0.06 for non-drug resistance groups. The results indicated that there is a meaningful relationship between drug resistance and rs137852599 single-nucleotide polymorphism
(p = 0.020).
Conclusion: The existence of single-nucleotide polymorphisms may result in drug resistance in individuals diagnosed with prostate cancer. Therefore, investigation of the existence of such polymorphisms can be effective in prescription of suitable drugs for these patients.
Ahmad Hamta, Milad Pezeshki, Jamshid Ansari,
Volume 20, Issue 12 (3-2018)
Abstract
Abstract
Background: Biological and epidemiological data suggest that damage induced by endogenous and exogenous factors affects the integrity and stability of DNA and associated with susceptibility to breast cancer. The XRCC3 protein participates in DNA double-strand breaks and recombination repair. The aim of the present study was to evaluate associations between the risk of breast cancer and Thr241Met polymorphism in the XRCC3 gene.
Materials and Methods: In this study, the effects of Thr241Met polymorphism of the XRCC3 gene and the risk of breast cancer in a population-based case-control study inclusive 80 patients and 80 healthy individuals of women in Markazi province were evaluated. Genomic DNA was extracted from blood samples using the kit procedure. The genotypes of samples were determined by PCR-RFLP technique. Statistical analysis was done using SPSS software (estimation of χ2 and p-value) and the final results were determined.
Results: Statistically significant difference was observed between the two groups of patients and controls for three genotypes of the site rs861539 (p= 0.000). Genotype CT (p= 0.000, OR=2.352, CI= 95%; 2.431 - 39.948) and TT (p = 0.003, OR= 2.352, CI=95%; 0.611 - 9.049) significant associations were showed with risk of breast cancer. Instead, the genotype CC (p= 0.000) showed a protective role against susceptibility to breast cancer.
Conclusion: This study identified that there is significant association between Thr241Met polymorphisms of the XRCC3 and the risk of susceptibility to breast cancer, which is in accordance to some of researchers' studies.
Hamed Abbasi Soltani, Farzad Zehsaz,
Volume 21, Issue 5 (10-2018)
Abstract
Background and Aim: one of the key concepts in physical education and sport science is the process of talent identification. The purpose of this research was to investigate the effect of PPARα gene polymorphism on some of the athletic performances of non-athlete 10-12-year-old children.
Materials and Methods: The present project was carried out in the form of semi-experimental and field-based research with salivary sampling. To determine the polymorphism of the genes, the methods used included saliva sampling, salvary DNA extraction and PCR-RFLP method and exercise tests included the Shuttle run, standing broad jump and 20m sprint. Our subjects consisted of 118 non-athletic healthy boys of Marand from 10 to 12 years old. After comparison with Hardy-Weinberg equilibrium, frequency of genotype was tested with Leven, Fisher and Kolmogorov-Smirnov tests. Using one-way covariance analysis, the mean group phenotypes was compared with each other. Type of polymorphism as a predestine variable and the athletic performances of 20m shuttle run, standing broad jump and 20m sprint test were considered as the criterion variable. All analyzes were performed by SPSS 22.
Findings: The results showed that the subjects with PPARα gene GG polymorphism had better performance in the endurance tests than subjects with CC and GC polymorphism.
Conclusion: It can be concluded that GG polymorphism is related to the endurance activities, but CC and GC polymorphisms do not have a particular predominance in the endurance, speed and power activities. |
Reza Kian Bostanabad, Saeid Ghorbian,
Volume 21, Issue 6 (12-2018)
Abstract
Background and Aim: The CPEB gene encodes an important protein, which play critical roles in translational regulation of oogenesis and spermatogenesis procedures. The aim of this study was to evaluate the association between CPEB2 rs12643066 gene polymorphism with the risk of idiopathic azoospermia/severe oligozoospermia of men.
Materials and Methods: This study was designed as a case-control investigation on 100 blood samples of men with idiopathic azoospermia/severe oligozoospermia and 100 blood samples of fertile men. To evaluate CPEB2 gene polymorphism, PCR-RFLP method was used. Data analysis was performed by chi-squat test.
Findings: In the present study, the genotype frequencies did not show a statically significant difference between groups (p=0.479, OR=1.222; CI=0.701-2.129).
Conclusion: The study showed that the CPEB2 gene polymorphism was not associated with the risk of idiopathic azoospermia/severe oligozoospermia of men. However, it is conceivable that evaluation of this gene polymorphism can not be used as a biomarker in diagnosis of men with idiopathic azoospermia/severe oligozoospermia.
Fatemeh Tavakoli, Somayeh Reiisi,
Volume 23, Issue 2 (5-2020)
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.
Masoomeh Rahimzadeh, Siroos Naeimi, Mohammad Mahdi Moghanibashi, Khalil Khashei Varnamkhasti,
Volume 23, Issue 4 (9-2020)
Abstract
Background and Aim: In acute myeloid leukemia, a large number of immature cells develop, which can related to some single nucleotide polymorphisms presence in positions of genes that encodes enzymes involved in cell activation and evolution signaling pathways. In this study, the association of rs104893674 (A / C) polymorphism with the risk of Acute Myeloid Leukemia (AML) in samples obtained from Fars and Isfahan Province hospitals was investigated.
Methods & Materials: In the present case-control study conducted at Islamic Azad University of Kazerun in 2019, 94 AML patients and 99 age and sex-matched healthy individuals were enrolled. The rs104893674 (A / C) polymorphism was determined by Tetra Primer ARMS PCR method. Data were analyzed by SPSS (version23) software using Chi-square statistical test.
Ethical Considerations: This study with research ethics code IR.IAU.KAU.REC.1398.051 has been approved by Research Ethics Committee of Islamic Azad University of Kazerun.
Results: The results of this study showed a significant, allele and genotype-specific Association between rs104893674 (A / C) polymorphism with risk of AML. Thus, there are more likely to develop AML in AC genotype, individuals with A allele at this polymorphic site (P=0.000).
Conclusion: The association of acute myeloid leukemia with the genetic polymorphism of the ZAP-70 protein can be considered as an option for prognosis of this complication in susceptible individuals.
Ahmad Hamta, Sahar Adl,
Volume 24, Issue 1 (3-2021)
Abstract
Background and Aim: Breast cancer is the most common cancer type and the leading cause of cancer-induced deaths in women, worldwide. The Fibroblast Growth Factor Receptor 2 (FGFR2) is a tyrosine kinase receptor that plays an essential role in the growth, invasion, movement, and angiogenesis of tumor cells. Several single nucleotide polymorphisms have been found in the intron 2 of the FGFR2 gene, i.e., associated with a high risk of breast cancer. Genetic variation in this receptor is a new risk factor for breast cancer. The current study aimed to evaluate the association of single-nucleotide polymorphism rs2981582C/T in women with breast cancer.
Methods & Materials: In total, 80 women with breast cancer and 80 healthy women (controls) were selected from Markazi Province, Iran to participate in this research. Polymorphism rs2981582 was analyzed to investigate its association with breast cancer. DNA extraction from blood samples was performed using a kit. The presence of these single-nucleotide polymorphisms was determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR - RFLP). Statistical analyses were performed by SPSS using Chi-squared test at P≤0.05.
Ethical Considerations: This study was approved by the Ethics Committee of the Arak University (Code: IR.ARAKMU.REC.1395.28).
Results: Significant differences were observed in the frequency of rs2981582 polymorphism in the FGFR2 gene between the control and patient groups (P=0.000). In the patient group, the TT genotype was significantly associated with the risk of breast cancer (P=0.001; OR=3.566). On the other hand, allele C indicated a protective role against the disease (P=0.000).
Conclusion: The obtained data revealed a significant relationship between rs2981582 C/T polymorphism and the risk of breast cancer; thus, this single-nucleotide polymorphism could be used as a biomarker to predict breast cancer.
Seyedeh Zahra Shifteh, Doctor Ahmad Hamta,
Volume 26, Issue 1 (4-2023)
Abstract
Introduction: Breast cancer is a highly heterogeneous disease. The antigen molecule of four cytotoxic T-lymphocytes is involved in inhibition of T cell response and immune response regulation. Single nucleotide polymorphisms in the CTLA4 gene can affect the expression of the aforementioned molecule. The aim of this study was to investigate the polymorphisms of rs4553808 and rs733618 of CTLA4 gene with the risk of breast cancer.
Methods: In this study to investigation polymorphisms, the DNA of 80 patients with breast cancer and 80 healthy individuals in central province of ARAK were extracted from peripheral blood. Then, PCR-RFLP technique was used. The results were analyzed using SPSS software and SNP Analyzer. This study was approved by the Ethics Committee of the Arak University (Code: Ir.arakmu.rec.1396.25).
Results: Statistical analysis rs4553808 polymorphism showed no significant increase in the risk of patients with GG genotype compared with the control group (OR = 2/013, CI = 95% 1/721-2/353). Also, heterozygotes AG genotype analysis did not show any relationship between the genetic diversity and breast cancer (OR = 1/204, CI = 95% 0/604-2/402). The combination of AG + GG genotypes did not show any significant correlations (OR = 1/130, CI = 95% 0/569-2/242). Statistical analysis for rs733618 polymorphism showed increase in the risk of breast cancer. The results indicate that the TC (OR = 2/992, CI = 95% 1/280-1/998) showed a significant relationship between the genetic diversity and breast cancer. The analysis of the combined CC and TC genotypes was associated with increased risk for breast cancer compared to TT genotypes (OR = 0/334, CI = 95%; 0.143-0.782, P = 0.009). Considering that the distribution of CC and TC genotypes was significant between the two groups of control and the patient, so the frequency of TT genotype with the same amount of P = 0.001 was significant between the two groups of control and the patient.
Conclusions: There was a significant relationship between the genotypes rs733618 polymorphism and breast cancer. However, there was no significant relationship between rs4553808 polymorphism and breast cancer risk.
Amir Najafi, Mohammad Amin Momeni-Moghaddam, Dr Davoud Salarbashi, Narges Amini Beidokhti, Marziye Rahmani, Milad Khorasani,
Volume 27, Issue 3 (7-2024)
Abstract
Introduction: Type 2 diabetes is a non-communicable disease that imposes a significant financial burden on the healthcare system each year. Numerous studies have demonstrated the involvement of inflammatory factors in the initiation and progression of this condition. The primary goal of this study is to compare the polymorphism of the interleukin 1 receptor antagonist gene among individuals with type 2 diabetes and those in the control group.
Methods: Following approval from the Ethics Committee of Gonabad University of Medical Sciences, blood samples were collected from 100 participants at Bohlool Hospital in Gonabad. These individuals were categorized into two groups: cases (individuals with type 2 diabetes) and controls (healthy individuals). DNA extraction was carried out using the salting out method. To examine the polymorphism, the specific segment was initially amplified through PCR with designated primers and then identified via gel electrophoresis. The data were analyzed using subjected to the Chi-square test at a significance level below 5%.
Results: Findings from the polymorphism analysis revealed a notable contrast in the genotype 2/1 (P = 0.001) and 2/2 (P = 0.004) within the case group when compared to the healthy participants. Specifically, individuals with genotype 2/1 exhibited a heightened risk of developing type 2 diabetes by up to 15 times.
Conclusions: Within the examined population, the polymorphism of the interleukin 1 receptor antagonist gene substantially influenced the predisposition to type 2 diabetes, amplifying the likelihood of developing this ailment. Individuals harboring allele 2 are at an increased susceptibility to type 2 diabetes.
Nasser Pouladi, Narmin Javadi, Sama Didevar Tabrizi,
Volume 28, Issue 2 (4-2025)
Abstract
Background: Thyroid cancer is one of the most common types of endocrine malignancies. FASL is one of the most important apoptosis ligands expressed by tumor-infiltrating lymphocytes. This death ligand plays an important role in the elimination of cancer cells by inducing apoptosis in the Fas/FasL pathway, and its disruption induces tumorigenesis. This study investigated the association of the FASL gene polymorphism - INV2nt-124A/G (rs5030772) with the risk of thyroid cancer in the East Azerbaijan region.
Materials and Methods: In this case-control study, 115 patients with thyroid cancer and 125 healthy individuals without a family history of cancer from Tabriz city were studied. Five milliliters of peripheral blood were collected from each of these participants. Proteinase K method was used for DNA extraction and FASL gene polymorphism (rs5030772) was analyzed by ARMS-PCR technique. The results were analyzed using Javastat statistics package online software.
Results: The genotype frequencies of AA, AG and GG were 40.35%, 49.12% and 10.53% in patients and 41.6%, 52.8% and 5.6% in the control group, respectively. Genotypic and allelic frequencies did not show significant differences between the patient and control groups (p>0.05). By examining the clinicopathological characteristics of the patients, no significant relationship was seen between the clinical characteristics of the patients and the distribution of the genotypes of this polymorphism (p<0.05).
Conclusion: The results of this study indicate that the FASL gene polymorphism - INV2nt-124A/G (rs5030772) cannot be considered as a risk factor for thyroid cancer in the studied population in in East Azerbaijan province.
