scholarly journals The Clinical Value of Ficolin-3 Gene Polymorphism in Rheumatic Heart Disease. An Egyptian Adolescents Study

2020 ◽  
Author(s):  
Maher H. Gomaa ◽  
Emad Gamil Khidr ◽  
Ahmed Elshafei ◽  
Hala S. Hamza ◽  
Aya M. Fattouh ◽  
...  

Abstract Background: The innate immunity molecules against Streptococcus pyogenes infections include ficolin-3 that was thought to have a role in autoimmune diseases resulting from this infection such as rheumatic fever (RF) which goes on and leads to its most serious sequel, rheumatic heart disease (RHD). We aimed in this study to disclose if there is an association between ficolin-3 gene polymorphisms (rs4494157 and rs10794501) and RF with or without RHD for the first time in Egyptian adolescents. Methods: This study was carried out on 160 RF patients; eighty patients had RHD and eighty didn't have RHD. Besides, eighty ethnically and age-matched healthy subjects were selected as control. Ficolin-3 gene polymorphisms (rs4494157 and rs10794501) were genotyped by TaqMan® allelic discrimination assay. Serum ficolin-3 was quantitatively determined by ELISA. Results: Regarding ficolin-3 gene polymorphisms; no differences in the frequency of rs10794501 were found between the investigated groups, while polymorphism of rs4494157 showed a significant correlation between AA homozygous genotype, high serum ficolin-3, and RHD risk. Conclusion: Elevated serum ficolin-3 and carriage of AA genotype of rs4494157 appeared to be involved in RF and RHD pathogenesis and may be predictive tools for early recognition of RHD prone RF patients, and subsequent early prophylactic interventions.

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maher H. Gomaa ◽  
Emad Gamil Khidr ◽  
Ahmed Elshafei ◽  
Hala S. Hamza ◽  
Aya M. Fattouh ◽  
...  

Abstract Objective Ficolin-3 is one of the innate immunity molecules that was thought to play a pivotal role in Streptococcus pyogenes autoimmunity and its complications; rheumatic fever (RF) and rheumatic heart disease (RHD). We aimed to disclose if there is an association between ficolin-3 (FCN3) gene polymorphisms (rs4494157 and rs10794501) and RF with or without RHD for the first time in Egyptian adolescents. Results Serum ficolin-3 level was significantly elevated in patients suffering from RF with and without RHD in comparison with control. Regarding FCN3 gene (rs4494157) polymorphism, a significant correlation was found between the A allele and the susceptibility to RF with or without RHD (OR = 2.93, P = 0.0002 and OR = 2.23, P = 0.008 respectively). Besides, AA homozygous genotype showed a significant association with RHD risk (OR = 3.47, P = 0.026). Patients carrying the A allele (CA + AA) had significantly higher serum ficolin-3 than those carrying the CC genotype (P ˂ 0.0001). While the frequency of (rs10794501) polymorphism revealed no significant differences between the controls and RF patients with or without RHD (OR = 1.43, P = 0.261 and OR = 1.48, P = 0.208 respectively).


2020 ◽  
Author(s):  
Maher H. Gomaa ◽  
Emad Gamil Khidr ◽  
Ahmed Elshafei ◽  
Hala S. Hamza ◽  
Aya M. Fattouh ◽  
...  

Abstract Objective: Ficolin-3 is one of the innate immunity molecules that was thought to play a pivotal role in Streptococcus pyogenes autoimmunity and its complications; rheumatic fever (RF) and rheumatic heart disease (RHD). We aimed to disclose if there is an association between ficolin-3 (FCN3) gene polymorphisms (rs4494157 and rs10794501) and RF with or without RHD for the first time in Egyptian adolescents. Results: Serum ficolin-3 level was significantly elevated in patients suffering from RF with and without RHD in comparison with control. Regarding FCN3 gene (rs4494157) polymorphism, a significant correlation was found between the A allele and the susceptibility to RF with or without RHD (OR=2.93, P=0.0002 and OR=2.23, P=0.008 respectively). Besides, AA homozygous genotype showed a significant association with RHD risk (OR=3.47, P=0.026). Patients carrying the A allele (CA+AA) had significantly higher serum ficolin-3 than those carrying the CC genotype (P˂ 0.0001). While the frequency of (rs10794501) polymorphism revealed no significant differences between the controls and RF patients with or without RHD (OR=1.43, P=0.261 and OR=1.48, P=0.208 respectively).


MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
S. Justin Carlus ◽  
Fiona Hannah Carlus ◽  
Mazen Khalid Al-Harbi ◽  
Abdulhadi H Al-Mazroea ◽  
Khalid M Al- Harbi ◽  
...  

Background: Rheumatic heart disease (RHD) remains a major cause of cardiovascular diseases and the most devastating effects are on children and young adults. RHD is caused due to the interaction between microbial, environmental, immunologic, and genetic factors. The renin-angiotensin aldosterone system (RAAS) has been strongly implicated as the susceptibility pathway in the pathogenesis of cardiovascular disease. Objective: The present study investigated the modulating effect of Angiotensin II type 1 receptor (AGTR1) 1166A>C polymorphism on the RHD and its clinical features in Saudi Arabia. Methods: AGTR1 1166A>C polymorphism was genotyped in 96 echocardiographically confirmed RHD patients and 142 ethnically matched controls by TaqMan allelic discrimination method. Results: Genotype distribution of the AGTR1 1166A>C polymorphism was not significantly different between RHD and control groups. Further, AGTR1 1166A>C genotypes are not associated with the clinical features of RHD. These data support that there was no evidence for an association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Conclusion: To our knowledge, this is the first study that has investigated the possible association between AGTR1 1166A>C polymorphism and susceptibility to RHD and its clinical features. Even though AGTR1 gene is 1166A>C (rs5186) was reported to be associated with hypertension, left ventricular hypertrophy and coronary heart disease. Present study did not find any association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Further studies are needed to confirm our findings.


Cytokine ◽  
2013 ◽  
Vol 61 (2) ◽  
pp. 527-531 ◽  
Author(s):  
Sadia Rehman ◽  
Naveed Akhtar ◽  
Nusrat Saba ◽  
Saeeda Munir ◽  
Waqar Ahmed ◽  
...  

2019 ◽  
Vol 73 (9) ◽  
pp. 1964 ◽  
Author(s):  
Bruno Ramos Nascimento ◽  
Júlia P.A. Santos ◽  
Andrea Z. Beaton ◽  
Luiz Paulo C. Rocha ◽  
Cecília H.R. Pinto ◽  
...  

2015 ◽  
Vol 26 (7) ◽  
pp. 1290-1296 ◽  
Author(s):  
Sherif M. Yousry ◽  
Yasser Sedky ◽  
Alaa Sobieh

AbstractAimRheumatic heart disease is an inflammatory disease of cardiac tissue. The underlying pathogenic mechanisms highlight a complex interplay of immunological, genetic, and environmental factors. The aim of the present study was to investigate whether IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms could be associated with susceptibility and/or severity of rheumatic heart disease among patients from the Egyptian population.Materials and methodsA cohort of 140 Egyptian children with rheumatic heart disease and 100 healthy controls were enrolled in this case–control study. Genotyping for IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms was carried out for all patients using a polymerase chain reaction-based analysis.ResultsNo significant difference in the distribution of genotypes and allelic frequencies between rheumatic heart disease cases and controls for IL-4 (intron 3) (p=0.17; OR 1.07, 95% CI 0.82–3.74) and IL-10 (-1082) (p=0.49; OR 1.03, 95% CI 0.65–2.71) gene polymorphisms was observed. Further categorisation of patients into mitral valve disease and combined valve disease subgroups showed that cases with mitral valve disease have significantly higher frequency of the RP2 allele of IL-4 (intron 3) (p=0.03; OR 2.98, 95% CI 1.93–6.15) and the G allele of IL-10 (-1082) (p=0.04; OR 2.14, 95% CI 1.62–4.95) when compared with controls.DiscussionOur study shows that IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms are not significantly associated with susceptibility to rheumatic heart disease, but they might play a role in the pathogenesis of patients with mitral valve disease.


2018 ◽  
Vol 37 (5) ◽  
pp. 309-318 ◽  
Author(s):  
Maheshkumar Poomarimuthu ◽  
Sivakumar Elango ◽  
Pravin Raj Solomon ◽  
Sambath Soundarapandian ◽  
Jayalakshmi Mariakuttikan

1996 ◽  
Vol 26 (2) ◽  
pp. 67-69 ◽  
Author(s):  
A C Onwuchekwa ◽  
E C Ugwu

The pattern of rheumatic heart disease in 84 adolescent and adult patients seen over a 9 year period (1982–1990) at the University of Maiduguri Teaching Hospital (UMTH) is presented. Over 70% were in the second and third decades of life. Pure mitral incompetence and mixed mitral valve disease were the commonest valvular lesions. This pattern appears similar to those in other developing countries. Congestive cardiac failure was the commonest complication. Declining economic fortunes of the developing countries, over crowding, malnutrition and inadequate medical facilities may further perpetuate the condition. Early recognition and the management of rheumatic carditis and early valvular lesions will reduce the morbidity and mortality.


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