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Genetic investigation of Nordic patients with complement-mediated kidney diseases

Rydberg, Viktor ; Aradottir, Sigridur Sunna LU ; Kristoffersson, Ann-Charlotte LU ; Svitacheva, Naila LU and Karpman, Diana LU orcid (2023) In Frontiers in Immunology 14.
Abstract
Background
Complement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.
Methods
Patients with these diagnoses (N=141) were referred for genetic screening. Sanger or next-generation sequencing were performed to identify genetic variants in 16 genes associated with these conditions. Nonsynonymous genetic variants are described when they have a minor allele frequency of Results
In patients with aHUS (n=94, one also had IC-MPGN) 68 different genetic variants or deletions were identified in 60... (More)
Background
Complement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.
Methods
Patients with these diagnoses (N=141) were referred for genetic screening. Sanger or next-generation sequencing were performed to identify genetic variants in 16 genes associated with these conditions. Nonsynonymous genetic variants are described when they have a minor allele frequency of Results
In patients with aHUS (n=94, one also had IC-MPGN) 68 different genetic variants or deletions were identified in 60 patients, of which 18 were novel. Thirty-two patients had more than one genetic variant. In patients with C3G (n=40) 29 genetic variants, deletions or duplications were identified in 15 patients, of which 9 were novel. Eight patients had more than one variant. In patients with IC-MPGN (n=7) five genetic variants were identified in five patients. Factor H variants were the most frequent in aHUS and C3 variants in C3G. Seventeen variants occurred in more than one condition.
Conclusion
Genetic screening of patients with aHUS, C3G and IC-MPGN is of paramount importance for diagnostics and treatment. In this study, we describe genetic assessment of Nordic patients in which 26 novel variants were found. (Less)
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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Frontiers in Immunology
volume
14
article number
1254759
publisher
Frontiers Media S. A.
external identifiers
  • pmid:37744338
  • scopus:85171865371
ISSN
1664-3224
DOI
10.3389/fimmu.2023.1254759
language
English
LU publication?
yes
id
160ec5ab-1538-424c-81f8-5ef24c15ede2
date added to LUP
2023-09-11 17:10:11
date last changed
2023-12-19 04:01:36
@article{160ec5ab-1538-424c-81f8-5ef24c15ede2,
  abstract     = {{Background<br/>Complement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.<br/>Methods<br/>Patients with these diagnoses (N=141) were referred for genetic screening. Sanger or next-generation sequencing were performed to identify genetic variants in 16 genes associated with these conditions. Nonsynonymous genetic variants are described when they have a minor allele frequency of Results<br/>In patients with aHUS (n=94, one also had IC-MPGN) 68 different genetic variants or deletions were identified in 60 patients, of which 18 were novel. Thirty-two patients had more than one genetic variant. In patients with C3G (n=40) 29 genetic variants, deletions or duplications were identified in 15 patients, of which 9 were novel. Eight patients had more than one variant. In patients with IC-MPGN (n=7) five genetic variants were identified in five patients. Factor H variants were the most frequent in aHUS and C3 variants in C3G. Seventeen variants occurred in more than one condition.<br/>Conclusion<br/>Genetic screening of patients with aHUS, C3G and IC-MPGN is of paramount importance for diagnostics and treatment. In this study, we describe genetic assessment of Nordic patients in which 26 novel variants were found.}},
  author       = {{Rydberg, Viktor and Aradottir, Sigridur Sunna and Kristoffersson, Ann-Charlotte and Svitacheva, Naila and Karpman, Diana}},
  issn         = {{1664-3224}},
  language     = {{eng}},
  publisher    = {{Frontiers Media S. A.}},
  series       = {{Frontiers in Immunology}},
  title        = {{Genetic investigation of Nordic patients with complement-mediated kidney diseases}},
  url          = {{http://dx.doi.org/10.3389/fimmu.2023.1254759}},
  doi          = {{10.3389/fimmu.2023.1254759}},
  volume       = {{14}},
  year         = {{2023}},
}