scholarly journals Association of MMP9 Polymorphism With Myocardial Infarction

Author(s):  
Riffat Iqbal ◽  
Aneeqa Zafar ◽  
Arslan Habib ◽  
Maryam Mukhtar ◽  
Iram Liaqat ◽  
...  

Abstract Myocardial Infarction (MI) is the most common type of coronary heart disease characterized by pain, nausea, sweating, shortness of breath and abnormal heartbeat. Current study was conducted to identify the susceptibility of the MMP-9 gene among families affected with myocardial infarction in the Pakistani population. A family clustering study based on 5 families having MI patients was conducted. Blood samples from MI patients and their family members were collected for further genetic analysis. Patients were with a mean BMI of ±30.2 kg/m2 which indicates that obese were at high risk of disease development. The mean age for diagnosis of disease was ±50 years, in which all patients had a positive family history. Most patients were diabetic with hypertension, most of them were smokers and their exposure to air pollution was higher. Genomic DNA was isolated from the blood through manual extraction. Primers were optimized and genotyping was done by polymerase chain reaction (PCR) which was followed by DNA sequencing and restriction fragment length polymorphism (RFLP). As a result of polymorphism, A into G and C into T conversions were identified on rs17576 and rs3918242 polymorphic sites on the MMP-9 gene respectively. In conclusion smoking, hypertension, diabetes, exposure to air pollution and polymorphism of rs17576 and rs3918242 were significantly associated with the onset of MI in the Pakistani population and males were at higher risk. Further studies should be conducted on large scale to evaluate the association of MMP-9 polymorphism with MI.

2016 ◽  
Vol 19 (1) ◽  
pp. 51-62 ◽  
Author(s):  
M Irfan ◽  
M Ismail ◽  
M Azhar Beg ◽  
A Shabbir ◽  
A Rashid Kayani ◽  
...  

AbstractThe present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism. A significant association of the minor MTHFR 677T allele with male infertility was observed (p <0.05). In addition, men with MTHFR 677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80, p = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, p = 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly (p <0.05) higher frequencies of CT and TT genotypes when compared to fertile men. The combined genotypes (CT + TT) were also found significantly (OR: 2.01, 95% CI: 1.31-3.08, p <0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population.


Author(s):  
Buğse Tunç ◽  
Ebru Demiray Gürbüz ◽  
Mine Doluca Dereli

Objective: The aim of the present study was to investigate and compare the phospholipase B1, B2, C1 and D1 activities in C.albicans strains isolated from blood cultures and oral cavity specimens. Method: Phospholipase activity of the strains was examined by plate method and reverse transcriptase polymerase chain reaction (RT-PZT). Results: Twenty-six (86.7%) strains isolated from blood and 24 (80.0%) from oral cavities revealed phospholipase activity by plate method. No statistically significant difference (χ2 =0.48; p=0.49) was observed between the groups. However statistical difference was determined between the mean Pz values (0.6138±0.9823; 0.6988±0.9910) (p=0.007). PLB1 expression was detected in all (100%), PLB2 in 29 (96.7%) and 30 (100.0%), PLC1 in 27 (90%) and 22 (73.3%), PLD1 in 27 (90.0%) and 21 (70.0%) of blood and oral strains, respectively. While no significant difference was detected between PLB1 expression values of the groups (t=-0.307; p=0.760), PLB2 and PLC1 expressions were found to be significantly higher in blood (p=0.043) and oral cavity isolates (p<0.001), respectively. No difference was observed between PLD1 expressions (p=0.732). PLB1, PLB2, PLC1 and PLD1 expressions were 100%, 81.7%, 71.6% and 76.7% in agreement with the plate method. The agreement was 83.3% when all the phospholipase genes were considered. No correlation was detected between the Pz values and phospholipase expressions (p=0.602; p=0.555; p=0.241; p=0,096, respectively). Conclusion: The high rates of phospholipase activity of the C.albicans isolates in our study, support the important roles of these enzymes in virulence. Our results may indicate that phospholipase enzymes encoded by PLB2 and PLC1 genes play more important roles for invasive and oral cavity infections, respectively; however large scale studies are needed on this issue.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Jun-Yi Luo ◽  
Yan-Hong Li ◽  
Bin-Bin Fang ◽  
Ting Tian ◽  
Fen Liu ◽  
...  

Abstract Myocardial infarction (MI), the leading cause of mortality and disability worldwide, is a disease in which multiple environmental and genetic factors are involved. Recently, researches suggested that insertion/deletion (ins/del) variation of NFKB1 gene rs28362491 is a functional polymorphism. In the present study, we aimed to explore the relation between variation of NFKB1 gene rs28362491 and MI by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) in 359 MI patients and 1085 control participants. Gensini score was used to evaluate the degree of coronary artery stenosis in MI patients. The plasma levels of interleukin-6 (IL-6), IL-8, malonaldehyde (MDA) and superoxide dismutase (SOD) were randomly measured by ELISA both in MI patients and control participants. We found that the detected frequencies of D allele (41.2% vs. 36.4%, P = 0.021) and DD genotype (17.5% vs. 12.0%, P = 0.022) were significantly higher in MI patients than in control participants. Compared with II or ID genotype carriers, the Gensini score in MI patients with DD genotype was 32–43% higher (both P < 0.001). Moreover, DD genotype carries had more diseased coronary arteries (P = 0.001 vs. II or ID genotype). Of note, IL-6 levels in MI patients carrying DD genotype were significantly higher than that in control participants and other genotype carriers in MI patients (both P < 0.05). In conclusion, NFKB1 gene rs28362491 DD genotype was associated with a higher risk of MI and more severe coronary artery lesion, which also had a potential influence on the level of inflammatory cytokine IL-6.


1994 ◽  
Vol 71 (05) ◽  
pp. 651-654 ◽  
Author(s):  
Rainer Kalb ◽  
Sentot Santoso ◽  
Katja Unkelbach ◽  
Volker Kiefel ◽  
Christian Mueller-Eckhardt

SummaryAlloimmunization against the human platelet alloantigen system Br (HPA-5) is the second most common cause of neonatal alloimmune thrombocytopenia (NAIT) in Caucasian populations. We have recently shown that a single base polymorphism at position 1648 on platelet mRNA coding for GPIa results in an aminoacid substitution at position 505 on the mature GPIa which is associated with the two serological defined Br phenotypes.Since DNA-typing of platelet alloantigens offers possibilities for useful clinical applications, we designed genomic DNA-based restriction fragment length polymorphism (RFLP) typing for Br alloantigens. To establish this technique we analyzed the genomic organization of GPIa adjacent to the polymorphic base. Using the polymerase chain reaction (PCR) of blood cell DNA we have identified two introns (approximately 1.7 and 1.9 kb) flanking a 144 bp coding sequence of the GPIa gene encompassing the polymorphic base 1648. Based on the in- tron sequence, a PCR primer was constructed to amplify a 274 bp fragment which was used for allele-specific RFLP to determine the Br genotypes. The results of RFLP analysis using Mnll endonuclease obtained from 15 donors (2 Br37*, 2 Br^ and 11 Brb/b) correlate perfectly with serological typing by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay.


1993 ◽  
Vol 69 (04) ◽  
pp. 321-327 ◽  
Author(s):  
E Seifried ◽  
M Oethinger ◽  
P Tanswell ◽  
E Hoegee-de Nobel ◽  
W Nieuwenhuizen

SummaryIn 12 patients treated with 100 mg rt-PA/3 h for acute myocardial infarction (AMI), serial fibrinogen levels were measured with the Clauss clotting rate assay (“functional fibrinogen”) and with a new enzyme immunoassay for immunologically intact fibrinogen (“intact fibrinogen”). Levels of functional and “intact fibrinogen” were strikingly different: functional levels were higher at baseline; showed a more pronounced breakdown during rt-PA therapy; and a rebound phenomenon which was not seen for “intact fibrinogen”. The ratio of functional to “intact fibrinogen” was calculated for each individual patient and each time point. The mean ratio (n = 12) was 1.6 at baseline, 1.0 at 90 min, and increased markedly between 8 and 24 h to a maximum of 2.1 (p <0.01), indicating that functionality of circulating fibrinogen changes during AMI and subsequent thrombolytic therapy. The increased ratio of functional to “intact fibrinogen” seems to reflect a more functional fibrinogen at baseline and following rt-PA infusion. This is in keeping with data that the relative amount of fast clotting “intact HMW fibrinogen” of total fibrinogen is increased in initial phase of AMI. The data suggest that about 20% of HMW fibrinogen are converted to partly degraded fibrinogen during rt-PA infusion. The rebound phenomenon exhibited by functional fibrinogen may result from newly synthesized fibrinogen with a high proportion of HMW fibrinogen with its known higher degree of phosphorylation. Fibrinogen- and fibrin degradation products were within normal range at baseline. Upon infusion of the thrombolytic agent, maximum median levels of 5.88 μg/ml and 5.28 μg/ml, respectively, were measured at 90 min. Maximum plasma fibrinogen degradation products represented only 4% of lost “intact fibrinogen”, but they correlatedstrongly and linearly with the extent of “intact fibrinogen” degradation (r = 0.82, p <0.01). In contrast, no correlation was seen between breakdown of “intact fibrinogen” and corresponding levels of fibrin degradation products. We conclude from our data that the ratio of functional to immunologically “intact fibrinogen” may serve as an important index for functionality of fibrinogen and select patients at high risk for early reocclusion. Only a small proportion of degraded functional and “intact fibrinogen”, respectively, is recovered as fibrinogen degradation products. There seems to be a strong correlation between the degree of elevation of fibrinogen degradation products and the intensity of the systemic lytic state, i.e. fibrinogen degradation.


1966 ◽  
Vol 16 (03/04) ◽  
pp. 752-767 ◽  
Author(s):  
J. R O’Brien ◽  
F. C Path ◽  
Joan B. Heywood ◽  
J. A Heady

SummaryMethods for measuring and comparing day to day differences in the response of platelet aggregation in platelet-rich plasma to added ADP, 5-H.T., adrenaline and collagen are reported. Platelet aggregation induced by ADP, 5-H.T. and adrenaline was studied in patients with acute myocardial infarction and in others 3 months to 5 years after an infarct; some were receiving anti-coagulants and others not: these three groups were compared with three control groups. The mean platelet shape was rounder and the response to ADP and to 5-H.T. and one parameter of the response to adrenaline was significantly greater in all groups of patients with myocardial infarct taken together than in the controls. The platelet-rich plasma from patients with recent infarction were most responsive to ADP and 5-H.T. immediately after the infarct. Anti-coagulants had no effect on these tests. However, there was wide variation within the individuals and much overlap between groups, and these tests can only reliably distinguish between groups and not between individuals. The significance of these findings is discussed.


2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová

The presence of phytoplasmas in apple trees with proliferation symptoms, rubbery wood symptoms and no symp&shy;toms was determined by using polymerase chain reaction assays with primers amplifying phytoplasma 16S rRNA gene. Phytoplasmas were detected in all trees with proliferation symptoms. Positive tests for phytoplasma in the group of trees with rubbery wood symptoms and of those without symptoms revealed a relatively high incidence of latent phytoplasma infection. Using restriction fragment length polymorphism analysis, phytoplasma of the same identity &ndash; apple proliferation phytoplasma (subgroup 16SrX-A) &ndash; was recorded in all positively tested trees. &nbsp;


Materials ◽  
2021 ◽  
Vol 14 (4) ◽  
pp. 1021
Author(s):  
Bernhard Dorweiler ◽  
Pia Elisabeth Baqué ◽  
Rayan Chaban ◽  
Ahmed Ghazy ◽  
Oroa Salem

As comparative data on the precision of 3D-printed anatomical models are sparse, the aim of this study was to evaluate the accuracy of 3D-printed models of vascular anatomy generated by two commonly used printing technologies. Thirty-five 3D models of large (aortic, wall thickness of 2 mm, n = 30) and small (coronary, wall thickness of 1.25 mm, n = 5) vessels printed with fused deposition modeling (FDM) (rigid, n = 20) and PolyJet (flexible, n = 15) technology were subjected to high-resolution CT scans. From the resulting DICOM (Digital Imaging and Communications in Medicine) dataset, an STL file was generated and wall thickness as well as surface congruency were compared with the original STL file using dedicated 3D engineering software. The mean wall thickness for the large-scale aortic models was 2.11 µm (+5%), and 1.26 µm (+0.8%) for the coronary models, resulting in an overall mean wall thickness of +5% for all 35 3D models when compared to the original STL file. The mean surface deviation was found to be +120 µm for all models, with +100 µm for the aortic and +180 µm for the coronary 3D models, respectively. Both printing technologies were found to conform with the currently set standards of accuracy (<1 mm), demonstrating that accurate 3D models of large and small vessel anatomy can be generated by both FDM and PolyJet printing technology using rigid and flexible polymers.


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