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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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

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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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, br. 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 i Borut Peterlin. "Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes." Scientific Reports 9, br. 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, i sur.. Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes. Scientific Reports [Internet]. 24.06.2019. [pristupljeno 12.01.2025.];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, br. 1, Lipanj 2019. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:849175. [Citirano: 12.01.2025.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:849175
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Naslov (engleski)Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
AutorLovro Vidmar
AutorAles Maver
AutorJelena Drulović
AutorJuraj Sepčić
AutorIvana Novaković
AutorSmiljana Ristić
MBZ: 142283
AutorSaša Šega
AutorBorut Peterlin
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za neurologiju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Neurologija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaScientific Reports
Brojčani podacivol. 9, br. 1, 9171
e-ISSN2045-2322
DOIhttps://doi.org/10.1038/s41598-019-45598-x
URN:NBNurn:nbn:hr:184:849175
Datum objave publikacije2019-06-24
Datum objave publikacije2019-12
URL dokumentahttp://www.nature.com/articles/s41598-019-45598-x
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2019-07-08 07:01:44