scholarly journals PCSK9 Gene Polymorphisms Associated With the Risk of Myocardial Infarction in Iranian Patients

2021 ◽  
Vol 6 (2) ◽  
pp. 57-63
Author(s):  
Farshad Namordizadeh ◽  
Mahboobeh Nasiri
Keyword(s):  
Myocardial Infarction ◽  
Gene Polymorphisms ◽  
Prognostic Markers ◽  
Regulatory Protein ◽  
Amplification Refractory Mutation System ◽  
Pcsk9 Gene ◽  
Arms Pcr ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain

Introduction: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key regulatory protein in lipid metabolism and a candidate gene in the etiology of cardiovascular diseases. The present study aimed to evaluate the prevalence and significance of PCSK9 rs505151 and rs11591147 variants with myocardial infarction (MI) risk in the Iranian population. Patients and Methods: The frequency of the PCSK9 rs505151 and rs11591147 variants were compared between 600 cases of MI and 600 healthy age- and sex-matched individuals. Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS PCR) was used for rs505151, and amplification refractory mutation system-polymerase chain (ARMS-PCR) was utilized to detect the rs11591147 polymorphism. Finally, SPSS and SHEsis software were applied for data analysis. Results: Carriers of the GG genotype of rs505151 polymorphism (OR: 1.57, 95% CI: 1.05–2.35, P = 0.02; age-adjusted; OR: 1.54, 95% CI: 1.03–2.32, P = 0.03) and at least one G-allele including GG+AG vs. AA (OR: 1.54, 95% CI: 1.04–2.28, P = 0.03; age-adjusted; OR: 1.51, 95% CI: 1.01–2.24, P = 0.04) have an increased risk of MI. No association between PCSK9 rs505151 alleles and MI risk was observed. The ratio of individuals with the rs11591147GT variant was higher in healthy individuals vs. patients with MI (48.6% vs. 41.7%), indicating a reduced risk of developing MI (OR: 0.75; 95% CI: 0.59–0.95; P = 0.01; age-adjusted; OR: 0.74; 95% CI: 0.58–0.95; P = 0.01). The carriers of at least one T allele (TT+GT vs. GG) (OR: 0.78; 95% CI: 0.62–0.98; P = 0.03; age-adjusted; OR: 0.78; 95% CI: 0.62–0.98; P = 0.03) showed a significant reduction in MI risk. The allelic frequencies at this polymorphic site did not differ between MI patients and healthy counterparts. No association was found between the haplotypes constructed from the alleles of these two polymorphisms. Conclusion: Our study provides the first evidence that PCSK9 gene polymorphisms may serve as independent prognostic markers for MI patients in Iran.

scholarly journals A Tetra-Primer Amplification Refractory Mutation System–Polymerase Chain Reaction (T-ARMS-PCR) for Genotyping of rs8099917 & rs12979860 IL28B Polymorphisms and Its Correlation of Various Variables in Iranian HCV Patients

2020 ◽  
pp. 31-41
Author(s):  
Ali Bahari ◽  
Mohammad Hashemi ◽  
Gholam Reza Bahari ◽  
Tahereh Fakharian ◽  
Sina Gerayli ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Viral Load ◽  
Hepatitis C ◽  
Gene Polymorphisms ◽  
Baseline Viral Load ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
Arms Pcr ◽  
Mutation System ◽  
Polymerase Chain

Background: Selecting patients for new direct acting antiviral treatment of HCV has prompted a conflicting matter worldwide because of its high cost and limited availability. Genotyping of IL28B polymorphisms will aid clinical decision making for identifying priorities of urgent treatment in resource-limited countries. Objectives: The aim of the present study was to design a simple tetra-primer amplification refractory mutation system–polymerase chain reaction (T-ARMS-PCR) for genotyping of the rs8099917 and rs12979860 IL28B gene polymorphisms. Furthermore, we identify the correlation of variables such as gender, serum ALT level, histology of liver and baseline viral load with these polymorphisms. Patients and Methods: We efficiently designed a T-ARMS-PCR for detection of rs12979860 and rs8099917 IL28B gene polymorphisms. Using this method, we genotyped 148 hepatitis C patients. To ensure T-ARMS genotyping quality, we, regenotyped samples with the PCR- sequencing method. Results: Results of genotyping of rs12979860 and rs8099917 by T-ARMS PCR method were 100% concordant with the sequencing results. Among these 148 patients with chronic hepatitis C, the frequency of the rs12979860 CT, TT and CC genotypes was 72.3%, 14.2% and 13.5%, respectively and the frequency of the rs8099917 TT, GT and GG genotypes was 58.1%, 38.5% and 3.4%. Low frequency (2.7%) of association of two unfavourable homozygous genotypes (TT rs12979860 / GG rs809917) as well as 56.7% of association of 3 or 4 favorable alleles could explain good response of Iranians to HCV treatment with interferon-based regimens. About correlation of polymorphisms with different variables, only high viral load showed a statistically significant correlation to unfavorable genotype of TT rs12979860 ( p value = 0/05 ) and there was no correlation of  serum ALT level, gender and  histology of liver to IL28B genotypes. Conclusions: We report that rs8099917 polymorphisms could predict outcomes better than rs12979860 in Iranian HCV patients.

scholarly journals Amplification Refractory Mutation System – Polymerase Chain Reaction for Rapid Detection of rpoB Gene Mutations in Mycobacterium tuberculosis

2017 ◽  
Vol 5 (1) ◽  
pp. 81-85 ◽  
Author(s):  
Hemanta Kumari Chaudhary ◽  
Mitesh Shrestha ◽  
Prakash Chaudhary ◽  
Bal Hari Poudel
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Rpob Gene ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
Arms Pcr ◽  
Mutation System ◽  
Mdr Tb ◽  
Total Dna ◽  
Polymerase Chain ◽  
Rifampin Resistance

Multidrug-resistant tuberculosis (MDR-TB) has become a serious worldwide threat including in Nepal. MDR-TB refers to the pathological condition whereby Mycobacterium tuberculosis becomes resistant to the first line of drug treatment i.e. rifampin and isoniazid. Resistance to rifampin (RIF) is mainly caused by the mutations in the rpoB gene which codes for the β-subunit of RNA polymerase. In this study, Amplification Refractory Mutation System – Polymerase Chain Reaction (ARMS – PCR) technique has been used to detect mutations in the rpoB gene of Mycobacterium tuberculosis. Total DNA samples of 34 phenotypic MDR-TB were subjected to ARMS – PCR using three different codon specific primers (516, 526 and 531). These three codons occupy large portion of total mutation responsible for rifampin resistance. Out of the total DNA samples, all were bearing mutation in at least one of the three codons mentioned. Of those bearing mutation, the highest number had mutation in codon 531 (97.05 %) followed by codon 516 (17.64 %) and finally in codon 526 (11.76%) respectively. Hence, ARMS – PCR may be used as an alternative diagnostic technique for detection of rifampin resistance in Mycobacterium tuberculosis strains, especially for a developing country like Nepal.Int. J. Appl. Sci. Biotechnol. Vol 5(1): 81-85

FABP1 gene variant associated with risk of metabolic syndrome

2021 ◽  
Vol 24 ◽  
Author(s):  
Reza Zare-Feyzabadi ◽  
Majid Mozaffari ◽  
Majid Ghayour-Mobarhan ◽  
Mohsen Valizadeh
Keyword(s):  
Metabolic Syndrome ◽  
International Diabetes Federation ◽  
Amplification Refractory Mutation System ◽  
Study Cohort ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain ◽  
The Relationship ◽  
Diabetes And Obesity

Background: Metabolic Syndrome (MetS) is defined by a clustering of metabolic abnormalities associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. There has been an increasing interest in the associations of genetic variants involved in diabetes and obesity in the FABP1 pathway. The relationship between the rs2241883 polymorphism of FABP1 and risk of MetS remains unclear. Objective: We aimed to examine the association between this genetic polymorphism and the presence of MetS and its constituent factors. Methods: A total of 942 participants were recruited as part of the Mashhad Stroke and Heart Atherosclerosis Disorders (MASHAD study) Cohort. Patients with MetS were identified using the International Diabetes Federation (IDF) criteria (n=406) and those without MetS (n=536) were also recruited. DNA was extracted from peripheral blood samples and used for genotyping of the FABP1 rs2241883T/C polymorphism using Tetra-Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-ARMS PCR). Genetic analysis was confirmed by gel electrophoresis and DNA sequencing. Results: Using both univariate and multivariate analyses after adjusting for age, sex and physical activity, carriers of C allele (CT/CC genotypes) in FABP1 variant were related to an increased risk of MetS, compared to non-carriers (OR: 1.38, 95%CI: 1.04,1.82, p=0.026). Conclusion: The present study shows that C allele in the FABP1 variant can be associated with an increased risk of MetS. The evaluation of these factors in a larger population may help further confirm these findings.

scholarly journals Association of rs4618210A>G variant in PLCL2 gene with myocardial infarction: A case-control study in Iran

2020 ◽  
Vol 12 (4) ◽  
pp. 303-306
Author(s):  
Najmeh Ramezanpour ◽  
Mahboobeh Nasiri ◽  
Omid Reza Akbarpour
Keyword(s):  
Myocardial Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Dominant Mode ◽  
Amplification Refractory Mutation System ◽  
Potential Candidate ◽  
Increased Risk ◽  
Mutation System ◽  
Pcr Method ◽  
Control Study

Introduction: Myocardial infarction (MI) is the leading cause of death all over the world. The pivotal roles of Phospholipase C like 2 gene (PLCL2) in calcium homeostasis and immune responses make this gene as a potential candidate for its role in MI pathogenesis. The present study was undertaken to investigate whether rs4618210A>G polymorphism in PLCL2 gene contribute to MI etiology. Methods: A hospital-based case-control study with 600 subjects, including 300 MI patients and 300controls, was conducted. Genotyping of PLCL2 rs4618210 polymorphism was performed using amplification refractory mutation system-polymerase chain reaction (ARMS PCR) method. Data were analyzed using logistic regression analysis. Results: No significant association was found between the PLCL2 rs4618210 alleles and MI risk.However, a significantly increased risk of MI was observed among carriers of the AG genotype (OR= 1.91; 95% CI = 1.24 - 2.93; P = 0.003) compared with AA homozygote. In a dominant mode of inheritance for G allele (GG + AG vs. AA), the frequency of the carriers of at least one G allele was higher in cases compared to controls (OR= 1.56; 95% CI: 1.03 – 2.36; P = 0.037). Conclusion: Our study provided further evidence that PLCL2 gene polymorphism may serve as a prognostic marker for MI.

Evaluation of a new efficient procedure for single-nucleotide polymorphism genotyping: tetra-primer amplification refractory mutation system-polymerase chain reaction

2004 ◽  
Vol 42 (1) ◽  
Author(s):  
Naoko Okayama ◽  
Kozue Fujimura ◽  
Junji Nakamura ◽  
Yutaka Suehiro ◽  
Yuichiro Hamanaka ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphism ◽  
Snp Genotyping ◽  
Amplification Refractory Mutation System ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Arms Pcr ◽  
Mutation System ◽  
Polymerase Chain

AbstractTetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) is a new efficient method for single-nucleotide polymorphism (SNP) genotyping. To determine the optimal conditions for ARMS-PCR we attempted to genotype ten SNPs. DNA was extracted from the peripheral blood of 168 unrelated healthy Japanese volunteers. Two problems inhibited uniform efficiency of the amplification of three bands. The first problem was the lower amplification efficiency of the shorter and allele-specific products compared with the largest product. This phenomenon was overcome by increasing the relative concentration of the inner primers. The second problem was non-specific amplification of the shorter products. To reduce the amplification of these nonspecific bands, adjusting any one of the following PCR conditions was effective: i) reducing the ratio of the inner primer concentration relative to that of the outer primers; ii) increasing the annealing temperature for the initial 5–10 cycles; iii) hot start PCR. With these procedures all ten of the SNPs were successfully genotyped. Our present data may be useful in the further application of tetra-primer ARMS-PCR to SNP genotyping.

Association of Interleukin-6 –174G>C Promoter Polymorphism with Risk of Cervical Cancer

2009 ◽  
Vol 24 (1) ◽  
pp. 11-16 ◽  
Author(s):  
Ruchika Gangwar ◽  
Balraj Mittal ◽  
Rama Devi Mittal
Keyword(s):  
Cervical Cancer ◽  
Interleukin 6 ◽  
Promoter Polymorphism ◽  
Amplification Refractory Mutation System ◽  
Physiological Processes ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain ◽  
Control Study ◽  
Multifunctional Cytokine

Background The etiology of cervical cancer is associated with excessive–inflammation-mediated tumorigenesis. Interleukin-6 ( IL-6), a multifunctional cytokine, regulates inflammation and various physiological processes. We therefore aimed to evaluate the association of the IL-6 –174G>C polymorphism with predisposition to cervical cancer. Materials and methods The present case-control study comprised 160 histopathologically confirmed cases of cervical cancer and 200 healthy controls. Polymorphism for the IL-6 gene was genotyped by amplification refractory mutation system (ARMS) polymerase chain reaction (PCR). Results We observed a significant association of the IL-6 –174CC genotype with risk of cervical cancer (OR=3.16; p=0.014). An increased risk of developing stage I tumors was found in individuals with a heterozygous (GC) genotype (OR=3.63, p=0.003). In a case-only analysis, the risk was further increased in patients consuming tobacco products (OR=3.14; p=0.033). Conclusion The CC genotype in the IL-6 promoter region may confer a high risk of cervical cancer, which is further modulated in patients who are tobacco users.

Sign in / Sign up

Export Citation Format

Share Document