prikaz prve stranice dokumenta Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
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Scientific paper - Original scientific paper
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
Scientific Reports, 9 (2019), 1; 9171. https://doi.org/10.1038/s41598-019-45598-x
Vidmar, Lovro; Maver, Ales; Drulović, Jelena; Sepčić, Juraj; Novaković, Ivana; Ristić, Smiljana; Šega, Saša; Peterlin, Borut

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Vidmar, L., Maver, A., Drulović, J., Sepčić, J., Novaković, I., Ristić, S. ... Peterlin, B. (2019). Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes. Scientific Reports, 9. (1). doi: 10.1038/s41598-019-45598-x

Vidmar, Lovro, et al. "Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes." Scientific Reports, vol. 9, no. 1, 2019. https://doi.org/10.1038/s41598-019-45598-x

Vidmar, Lovro, Ales Maver, Jelena Drulović, Juraj Sepčić, Ivana Novaković, Smiljana Ristić, Saša Šega and Borut Peterlin. "Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes." Scientific Reports 9, no. 1 (2019). https://doi.org/10.1038/s41598-019-45598-x

Vidmar, L., et al. (2019) 'Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes', Scientific Reports, 9(1). doi: 10.1038/s41598-019-45598-x

Vidmar L, Maver A, Drulović J, Sepčić J, Novaković I, Ristić S, and sur.. Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes. Scientific Reports [Internet]. 2019 June 24 [cited 2024 November 10];9(1). doi: 10.1038/s41598-019-45598-x

L. Vidmar, et al., "Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes", Scientific Reports, vol. 9, no. 1, June 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:849175. [Accessed: 10 November 2024]

Metadata
Title (english)Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
AuthorLovro Vidmar
AuthorAles Maver
AuthorJelena Drulović
AuthorJuraj Sepčić
AuthorIvana Novaković
AuthorSmiljana Ristić
MBZ: 142283
AuthorSaša Šega
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Neurology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (english)
The role of rare genetic variation and the innate immune system in the etiology of multiple sclerosis (MS) is being increasingly recognized. Recently, we described several rare variants in the NLRP1 gene, presumably conveying an increased risk for familial MS. In the present study we aimed to assess rare genetic variation in the inflammasome regulatory network. We performed whole exome sequencing of 319 probands, comprising patients with familial MS, sporadic MS and control subjects. 62 genes involved in the NLRP1/NLRP3 inflammasome regulation were screened for potentially pathogenic rare genetic variation. Aggregate mutational burden was analyzed, considering the variants' predicted pathogenicity and frequency in the general population. We demonstrate an increased (p = 0.00004) variant burden among MS patients which was most pronounced for the exceedingly rare variants with high predicted pathogenicity. These variants were found in inflammasome genes (NLRP1/3, CASP1), genes mediating inflammasome inactivation via auto and mitophagy (RIPK2, MEFV), and genes involved in response to infection with DNA viruses (POLR3A, DHX58, IFIH1) and to type-1 interferons (TYK2, PTPRC). In conclusion, we present new evidence supporting the importance of rare genetic variation in the inflammasome signaling pathway and its regulation via autophagy and interferon-β to the etiology of MS.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleScientific Reports
Numberingvol. 9, no. 1, 9171
e-ISSN2045-2322
DOIhttps://doi.org/10.1038/s41598-019-45598-x
URN:NBNurn:nbn:hr:184:849175
Publication2019-06-24
Publication2019-12
Document URLhttp://www.nature.com/articles/s41598-019-45598-x
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2019-07-08 07:01:44