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Genetic variants linked to the phenotypic outcome of invasive disease and carriage of Neisseria meningitidis
Örebro University, School of Medical Sciences. Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Department of Bacteria, Parasites and Fungi, Statens Serum Institut, Copenhagen, Denmark.
Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Laboratory Medicine.ORCID iD: 0000-0003-4637-8626
Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Laboratory Medicine.
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2023 (English)In: Microbial Genomics, E-ISSN 2057-5858, Vol. 9, no 10, article id 001124Article in journal (Refereed) Published
Abstract [en]

Neisseria meningitidis can be a human commensal in the upper respiratory tract but is also capable of causing invasive diseases such as meningococcal meningitis and septicaemia. No specific genetic markers have been detected to distinguish carriage from disease isolates. The aim here was to find genetic traits that could be linked to phenotypic outcomes associated with carriage versus invasive N. meningitidis disease through a bacterial genome-wide association study (GWAS). In this study, invasive N. meningitidis isolates collected in Sweden (n=103) and carriage isolates collected at Örebro University, Sweden (n=213) 2018-2019 were analysed. The GWAS analysis, treeWAS, was applied to single-nucleotide polymorphisms (SNPs), genes and k-mers. One gene and one non-synonymous SNP were associated with invasive disease and seven genes and one non-synonymous SNP were associated with carriage isolates. The gene associated with invasive disease encodes a phage transposase (NEIS1048), and the associated invasive SNP glmU S373C encodes the enzyme N-acetylglucosamine 1-phosphate (GlcNAC 1-P) uridyltransferase. Of the genes associated with carriage isolates, a gene variant of porB encoding PorB class 3, the genes pilE/pilS and tspB have known functions. The SNP associated with carriage was fkbp D33N, encoding a FK506-binding protein (FKBP). K-mers from PilS, tbpB and tspB were found to be associated with carriage, while k-mers from mtrD and tbpA were associated with invasiveness. In the genes fkbp, glmU, PilC and pilE, k-mers were found that were associated with both carriage and invasive isolates, indicating that specific variations within these genes could play a role in invasiveness. The data presented here highlight genetic traits that are significantly associated with invasive or carriage N. meningitidis across the species population. These traits could prove essential to our understanding of the pathogenicity of N. meningitidis and could help to identify future vaccine targets.

Place, publisher, year, edition, pages
Microbiology Society, 2023. Vol. 9, no 10, article id 001124
Keywords [en]
Carriage, Genome-wide association study, Invasive meningococcal disease, Neisseria meningitidis
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-109425DOI: 10.1099/mgen.0.001124ISI: 001107086200005PubMedID: 37874326Scopus ID: 2-s2.0-85175126623OAI: oai:DiVA.org:oru-109425DiVA, id: diva2:1807211
Funder
Region Örebro County, OLL-967424Available from: 2023-10-25 Created: 2023-10-25 Last updated: 2024-05-27Bibliographically approved
In thesis
1. Exploring genomic and phenotypic differences in Neisseria meningitidis: understanding carriage and invasive disease
Open this publication in new window or tab >>Exploring genomic and phenotypic differences in Neisseria meningitidis: understanding carriage and invasive disease
2024 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Neisseria meningitidis can colonise the nasopharynx in humans and is also the cause of invasive meningococcal disease (IMD), which often presents as septicaemia and meningitis with high mortality rates. Invasive disease is often associated with specific capsular serogroups and clonal complexes (CC). In Sweden, serogroups Y and W have had a high incidence in recent years, but were previously considered rare causes of IMD, suggesting a change in the virulence potential of these serogroups. Currently, no specific genes exist that can reliably predict whether an N. meningitidis isolate will result in invasive disease or remain in the carriage state. Genetically similar isolates can be found during carriage and IMD, and it is more common for the carriage isolates to lack a capsule. The aim of this thesis was to investigate how genetic and phenotypic differences in N. meningitidis, can affect the virulence and the transition from a carriage state to invasive disease.

The results indicate that the increase of serogroup W in Sweden is due to a specific lineage of CC11. This CC is rarely found among carriers and is considered highly virulent. Infections in transgenic mice with serogroup W CC11 isolates showed a greater virulence compared to serogroup Y isolates from other CCs. Although both serogroups are common causes of IMD in Sweden, they differ in virulence in transgenic mice. A genome-wide association study comparing carriage and invasive isolates, revealed that there were genetic variants in genes associated with virulence between these isolates. Among these variants were pilE/pilS, which are involved in the type IV pili. Comparison of pilE gene expression between carriage and invasive isolates showed no significant difference between these isolates. However, a difference in the class of the PilE protein was found between invasive and carriage isolates. Further research is needed to understand the impact of these genetic variations on the transition from carriage to invasive disease, also considering how factors in the human host and the environment that may contribute to the development of invasive disease.

Place, publisher, year, edition, pages
Örebro: Örebro University, 2024. p. 81
Series
Örebro Studies in Medicine, ISSN 1652-4063 ; 292
Keywords
Neisseria meningitidis, invasive meningococcal disease, carriage, virulence, whole genome sequencing, genome wide association study
National Category
Other Basic Medicine
Identifiers
urn:nbn:se:oru:diva-112752 (URN)9789175295572 (ISBN)9789175295589 (ISBN)
Public defence
2024-05-31, Örebro universitet, Campus USÖ, hörsal X3, Södra Grev Rosengatan 32, Örebro, 09:00 (Swedish)
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Supervisors
Available from: 2024-04-02 Created: 2024-04-02 Last updated: 2024-05-27Bibliographically approved

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Eriksson, LorraineStenmark, BiancaJacobsson, SusanneSäll, OlofMölling, Paula

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