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Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation
Eleni Gavriilaki1, Stefanos A Tsiftsoglou2, Tasoula Touloumenidou1
1Hematology Department & BMT Unit, G Papanicolaou Hospital, 57010 Thessaloniki, Greece.
Current Issues in Molecular Biology
|July 25, 2022
Summary
Genetic variations in complement genes, specifically CFB and CFH, were more frequent in children with multisystem inflammatory syndrome (MIS-C). These SNPs may impair immune clearance and contribute to MIS-C systemic inflammation.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Complement dysregulation is observed in adult COVID-19 and pediatric inflammatory responses to SARS-CoV-2.
- Missense coding single nucleotide polymorphisms (SNPs) in complement genes may contribute to these conditions.
Purpose of the Study:
- To investigate the association between complement gene missense coding SNPs and multisystem inflammatory syndrome in children (MIS-C).
Main Methods:
- Genotyping of 71 pediatric SARS-CoV-2 patients across three groups: MIS-C, hospitalized COVID-19, and non-hospitalized COVID-19.
- Analysis of SNPs in complement genes including C3, C5, CFB, CFD, CFH, and others.
Main Results:
- Similar SNP distribution across groups, but significantly higher frequencies of alternative pathway (AP) associated SNPs (rs12614 CFB, rs1061170 CFH, rs1065489 CFH) in MIS-C patients.
- These SNPs may reduce C3b-inactivation efficiency and weaken AP C3bBb pre-convertase assembly.
Conclusions:
- Specific complement gene SNPs are associated with MIS-C in children.
- Impaired complement AP opsonization due to these SNPs could lead to compromised immune clearance and systemic inflammation in MIS-C.
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