MBL2 and FCN2 gene polymorphisms in a cohort of Italian children with rheumatic fever: A case–control study

Marzetti, Valentina; Battista, Caterina Di; Ferrante, Rossella; Carlucci, Leonardo; Balsamo, Michela; Stuppia, Liborio; Lapergola, Giuseppe; Antonucci, Ivana; Chiarelli, Francesco; Breda, Luciana

doi:10.1016/j.semarthrit.2017.04.006

Cited by 9 publications

(7 citation statements)

References 24 publications

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“…Besides, clinicians must con rm adherence of those patients to secondary prophylaxis intervention [58]. Actually, secondary prophylaxis adherence of RF patients is typically poor, especially in young people which was perceived as the principal explanation for RF repeats and RHD advancement [58,59].…”

Section: Discussionmentioning

confidence: 99%

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

Gomaa

Khidr

Elshafei

et al. 2020

Preprint

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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.

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Section: Discussionmentioning

confidence: 99%

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

Gomaa

Khidr

Elshafei

et al. 2020

Preprint

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“…Patients carrying the FCN2 A polymorphism at -4 may be at major risk of recurrences having a higher probability to evolve in RHD. As a consequence, these patients should be carefully monitored and clinicians should consider the risks of secondary prophylaxis interruption [33]. Indeed, adherence to secondary prophylaxis for RF is usually poor, particularly in adolescents, and this is regarded as the main cause of RF recurrences and of RHD development [33, 34].…”

Section: Discussionmentioning

confidence: 99%

“…As a consequence, these patients should be carefully monitored and clinicians should consider the risks of secondary prophylaxis interruption [33]. Indeed, adherence to secondary prophylaxis for RF is usually poor, particularly in adolescents, and this is regarded as the main cause of RF recurrences and of RHD development [33, 34]. By focusing on the FCN haplotypes, a significantly higher haplotype frequency of -602/-4 G/A was observed in total RF compared to the controls.…”

Section: Discussionmentioning

confidence: 99%

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

Elshamaa¹,

Hamza²,

Rahman³

et al. 2018

Arch Med Sci Atheroscler Dis

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IntroductionA role for ficolin (FCN) 2 gene polymorphisms in the pathogenesis of recurrent severe streptococcal infections and rheumatic carditis has been suggested. The aim of the study was to evaluate a possible relationship between single nucleotide polymorphisms located at positions -602 and -4 of the FCN2 gene and FCN2 serum levels and risk of development of rheumatic fever (RF) and rheumatic heart disease (RHD).Material and methodsSeventy-seven Caucasian Egyptian patients with RF were recruited with a control group of 43 healthy subjects. DNA was extracted for analysis of the FCN2 gene at positions -602 and -4 and serum protein level was measured by ELISA.ResultsFCN2 AA genotype at the -4 position was more frequently observed in RF and RHD patients, as compared to healthy subjects (p = 0.005 and p = 0.013, respectively); furthermore, the A allele was identified as a possible risk factor for the development of RF (p = 0.023, OR = 1.852, 95% CI: 1.085–3.159). The haplotype –602/–4 G/A, which was associated with low median levels of L-ficolin, was observed more frequently in the RF group when compared to the healthy subjects (74/162, 48.1% vs. 29/420, 33.7%, OR = 1.834, 95% CI: 1.034–3.252, p = 0.038). Low serum ficolin-2 level was associated with ESV and EDV increases. FCN 2 level was significantly lower with AA genotypes than GG+AG genotypes of the -4 position (56.68 ±17.90 vs. 66.05 ±18.79, p = 0.008).ConclusionsPolymorphisms linked to low levels of L-ficolin may render an individual at risk of recurrent and/or severe streptococcal infection. The -4 AA genotype and -602/-4 G/A haplotype are possible risk factors for the development of carditis.

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“…Consequently, early identi cation, careful monitoring should be given for those patients. Furthermore, clinicians must con rm adherence of those patients to secondary prophylaxis intervention [38]. In fact, secondary prophylaxis adherence of RF patients is typically poor, especially in young people which was perceived as the principal explanation for RF repeats and RHD advancement [38,39].…”

Section: Discussionmentioning

confidence: 99%

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

Gomaa

Khidr

Elshafei

et al. 2020

Preprint

View full text Add to dashboard Cite

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).

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MBL2 and FCN2 gene polymorphisms in a cohort of Italian children with rheumatic fever: A case–control study

Cited by 9 publications

References 24 publications

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

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

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

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

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