Dataset Information

The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.

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).

SUBMITTER: Gomaa MH

PROVIDER: S-EPMC7836457 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.

Gomaa Maher H MH Khidr Emad Gamil EG Elshafei Ahmed A Hamza Hala S HS Fattouh Aya M AM El-Husseiny Ahmed A AA Aglan Ahmed A Eldeib Mahmoud Gomaa MG

BMC research notes 20210126 1

<h4>Objective</h4>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.<h4>Results</h4>Serum ficolin-3 level was significantly elevated in patients sufferin ...[more]

PMID: 33499929

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Project description:Rheumatic fever (RF) and its subsequent progression to rheumatic heart disease (RHD) are chronic inflammatory disorders prevalent in children and adolescents in underdeveloped countries, and a contributing factor for high morbidity and mortality rates worldwide. Their primary cause is oropharynx infection by Streptococcus pyogenes, whose acetylated residues are recognized by ficolin-1. This is the only membrane-bound, as well as soluble activator molecule of the complement lectin pathway (LP). Although LP genetic polymorphisms are associated with RF, FCN1 gene's role remains unknown. To understand this role, we haplotyped five FCN1 promoter polymorphisms by sequence-specific amplification in 193 patients (138 with RHD and 55, RF only) and 193 controls, measuring ficolin-1 serum concentrations in 78 patients and 86 controls, using enzyme-linked immunosorbent assay (ELISA). Patients presented lower ficolin-1 serum levels (p < 0.0001), but did not differ according to cardiac commitment. Control's genotype distribution was in the Hardy-Weinberg equilibrium. Four alleles (rs2989727: c.-1981A, rs10120023: c.-542A, rs10117466: c.-144A, and rs10858293: c.33T), all associated with increased FCN1 gene expression in whole blood or adipose subcutaneous tissue (p = 0.000001), were also associated with increased protection against the disease. They occur within the * 3C2 haplotype, associated with an increased protection against RF (OR = 0.41, p < 0.0001) and with higher ficolin-1 levels in patient serum (p = 0.03). In addition, major alleles of these same polymorphisms comprehend the most primitive * 1 haplotype, associated with increased susceptibility to RF (OR = 1.76, p < 0.0001). Nevertheless, instead of having a clear-cut protective role, the minor c.-1981A and c.-144A alleles were also associated with additive susceptibility to valvar stenosis and mitral insufficiency (OR = 3.75, p = 0.009 and OR = 3.37, p = 0.027, respectively). All associations were independent of age, sex or ethnicity. Thus, minor FCN1 promoter variants may play a protective role against RF, by encouraging bacteria elimination as well as increasing gene expression and protein levels. On the other hand, they may also predispose the patients to RHD symptoms, by probably contributing to chronic inflammation and tissue injury, thus emphasizing the dual importance of ficolin-1 in both conditions.

Dataset Information

The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.

Objective

Results

Publications

The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.

Similar Datasets

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