Volume 3, Issue 2 (April 2024)
Health Science Monitor 2024, 3(2): 84-89 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Bagheri M, Khadem-Vatani K, Abdi Rad I, Seyed-Mohammadzad M, Rostamzadeh A, Rahimi B et al . Frequency of the R202Q mutation of MEFV gene in Iranian patients with premature coronary artery disease: a report from West Azerbaijan province of Iran. Health Science Monitor 2024; 3 (2) :84-89
URL: http://hsm.umsu.ac.ir/article-1-137-en.html
URL: http://hsm.umsu.ac.ir/article-1-137-en.html
Morteza Bagheri * 
, Kamal Khadem-Vatani , Isa Abdi Rad , MirHossein Seyed-Mohammadzad , Alireza Rostamzadeh , Behzad Rahimi , Negin Kavosi
, Kamal Khadem-Vatani , Isa Abdi Rad , MirHossein Seyed-Mohammadzad , Alireza Rostamzadeh , Behzad Rahimi , Negin Kavosi
Cellular and Molecular Research Center, Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences, Urmia, Iran
Abstract: (1208 Views)
Background & Aims: Premature coronary artery disease (CAD) is common in men and women under 45 and 55 years, respectively. It has been demonstrated that R202Q mutation of MEFV gene may increase the risk of cardiovascular disease in individuals with metabolic syndrome. The goal of the present investigation was to evaluate the frequency of MEFV gene mutation R202Q in exon 2 in Iranian patients with premature CAD (West Azerbaijan province of Iran).
Materials & Methods: A total of 100 patients with premature CAD and 100 healthy individuals participated in this hospital-based study. Cases and controls were selected based on strict criteria, including a minimum of one documented angiography with at least 50% stenosis of the coronary artery. PvuII based PCR-RFLP technique was used for the detection of R202Q mutation in the tested samples.
Results: R202Q mutation was not found in any of the healthy controls; whereas 12 out of 100 patients with premature CAD were heterozygote for R202Q mutation (12%) (12% vs. 0%). Considering the heterozygosity of the R202Q mutation in the patients, the allele frequency was 0.06 (12 out of 200 chromosomes).
Conclusion: Our results indicate that the R202Q mutation in the MEFV gene is frequent in patients with premature CAD. Further studies are necessary to analyze more details regarding variable expressivity or incomplete penetrance of R202Q mutation in the tested population.
Materials & Methods: A total of 100 patients with premature CAD and 100 healthy individuals participated in this hospital-based study. Cases and controls were selected based on strict criteria, including a minimum of one documented angiography with at least 50% stenosis of the coronary artery. PvuII based PCR-RFLP technique was used for the detection of R202Q mutation in the tested samples.
Results: R202Q mutation was not found in any of the healthy controls; whereas 12 out of 100 patients with premature CAD were heterozygote for R202Q mutation (12%) (12% vs. 0%). Considering the heterozygosity of the R202Q mutation in the patients, the allele frequency was 0.06 (12 out of 200 chromosomes).
Conclusion: Our results indicate that the R202Q mutation in the MEFV gene is frequent in patients with premature CAD. Further studies are necessary to analyze more details regarding variable expressivity or incomplete penetrance of R202Q mutation in the tested population.
Type of Study: Research |
Subject:
General
Received: 2023/07/31 | Accepted: 2023/12/19 | Published: 2024/04/9
Received: 2023/07/31 | Accepted: 2023/12/19 | Published: 2024/04/9
References
1. Khoja A, Andraweera PH, Lassi ZS, Zheng M, Pathirana MM, Ali A, et al. Risk factors for premature coronary artery disease (PCAD) in adults: a systematic review protocol. F1000 Research 2021;10:1228. [DOI] [PMID] [PMCID]
2. Rasmi Y, Bagheri M, Faramarz-Gaznagh S, Nemati M, Khadem-Ansari MH, Saboory E, et al. Transcriptional activity of tumor necrosis factor-alpha gene in peripheral blood mononuclear cells in patients with coronary slow flow. ARYA Atherosclerosis 2017; 13(4):196-201. [PMID] [PMCID]
3. Hassan-Nejhad M, Bagheri M, Khadem-Vatani K, Seyed Mohammad Zad MH, Abdi Rad I, Rahimi B, et al. Tumor Necrosis Factor-alpha Gene Expression in PBMCs of Iranian Azeri Turkish Patients with Premature Coronary Artery Disease (Age.50 Years). Maedica (Bucharest) 2018; 13(1):12-16. [DOI] [PMID]
4. Bagheri M, Khadem-Vatani K, Mohammad Zad MHS, Abdi Rad I, Rahimi B, Rostamzadeh A, et al. Analysis of the mutations in exon 10 of MEFV gene in patients with premature coronary heart disease in west Azerbaijan province of Iran. Journal of Cardiovascular and Thoracic Research 2018; 10(1):20-23 [DOI] [PMID] [PMCID]
5. Bagheri M, Khadem-Vatani K, Seyed-Mohammad-Zad MH, Rad IA, Rostamzadeh A, Rahimi B, et al. TNF receptor type 1 and TNF receptor type 2 mRNA expression was not associated with coronary artery disease in a group of Iranian Turks. Bratislava Medical Journal 2019; 120(2):144-147. [DOI] [PMID]
6. Khojasteh-Fard M, Abolhalaj M, Amiri P, Zaki M, Taheri Z, Qorbani M, et al. IL-23 gene expression in PBMCs of patients with coronary artery disease. Disease Markers 2012; 33(6): 289-93. [DOI] [PMID] [PMCID]
7. Hoseini F, Mahmazi S, Mahmoodi K, Jafari GA, Soltanpour MS. Evaluation of the Role of -137G/C Single Nucleotide Polymorphism (rs187238) and Gene Expression Levels of the IL-18 in Patients with Coronary Artery Disease. Oman Medical Journal 2018; 33(2): 118-125. [DOI] [PMID] [PMCID]
8. Basar N, Kisacik B, Ercan S, Pehlivan Y, Yilmaz S, Simsek I,et al. Familial Mediterranean fever gene mutations as a risk factor for early coronary artery disease. International Journal of Rheumatic Diseases 2017; 20(12): 2113-2117. [DOI] [PMID]
9. Bagheri M, Rad IA. Analysis of the Most Common Three MEFV Mutations in 630 Patients with Familial Mediterranean Fever in Iranian Azeri Turkish Population. Maedica (Bucharest) 2017; 12(3):169-173. [PMID] [PMCID]
10. Nikibakhsh AA, Houshmand M, Bagheri M, Zadeh HM, Rad IA. MEFV gene mutations (M694V, V726A, M680I, andA744S) in Iranian children with Henoch-Schönlein purpura. Pneumologia 2012; 61(2):84-7. [Google Scholar]
11. Öztürk A, Özçakar B, Ekim M, Akar N. Is MEFVGene Arg202Gln (605 G> A) A Disease-Causing Mutation? Turkish Journal of Medical Sciences 2008; 38(3):205-8. [Google Scholar]
12. Balkarli A, Akyol M, Tepeli E, Elmas L, Cobankara V. MEFV gene variation R202Q is associated with metabolic syndrome. European Review for Medical and Pharmacological Sciences 2016; 20(15):3255-61. [Google Scholar]
13. Ju SY, Lee JY, Kim DH. Association of metabolic syndrome and its components with all-cause and cardiovascular mortality in the elderly: A meta-analysis of prospective cohort studies. Medicine (Baltimore) 2017; 96(45):e8491. [DOI] [PMID] [PMCID]
14. Jiangping S, Zhe Z, Wei W, Yunhu S, Jie H, Hongyue W, et al. Assessment of coronary artery stenosis by coronary angiography: a head-to-head comparison with pathological coronary artery anatomy. Circulation: Cardiovascular Interventions 2013; 6(3): 262-8. [DOI] [PMID]
15. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988; 16:1215 [DOI] [PMID] [PMCID]
16. Farivar Sh, Hasani M, Shiari R. R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis. Research in Molecular Medicine 2014; 2 (4): 30-32. [DOI]
17. Chouhan L, Hajar HA, Pomposiello JC. Comparison of thrombolytic therapy for acute myocardial infarction in patients aged < 35 and > 55 years. American Journal of Cardiology 1993; 71(2):157-9. [DOI] [PMID]
18. Hansson GK. Inflammation, atherosclerosis, and coronary artery disease. New England Journal of Medicine 2005; 352(16):1685-95. [DOI] [PMID]
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
