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240322s2024 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2024.110194
|2 doi
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|a pubmed25n1232.xml
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|a (DE-627)NLM369978749
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|a (NLM)38508295
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|a (PII)S1521-6616(24)00085-8
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Renaudineau, Yves
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus
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|c 2024
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 15.04.2024
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|a Date Revised 15.04.2024
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.
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|a Pathologic type I interferon (T1IFN) expression is a key feature in systemic lupus erythematosus (SLE) that associates with disease activity. When compared to adult-onset disease, juvenile-onset (j)SLE is characterized by increased disease activity and damage, which likely relates to increased genetic burden. To identify T1IFN-associated gene polymorphisms (TLR7, IRAK1, miR-3142/miR-146a, IRF5, IRF7, IFIH1, IRF8, TYK2, STAT4), identify long-range linkage disequilibrium and gene:gene interrelations, 319 jSLE patients were genotyped using panel sequencing. Coupling phenotypic quantitative trait loci (QTL) analysis identified 10 jSLE QTL that associated with young age at onset (<12 years; IRAK1 [rs1059702], TLR7 [rs3853839], IFIH1 [rs11891191, rs1990760, rs3747517], STAT4 [rs3021866], TYK2 [rs280501], IRF8 [rs1568391, rs6638]), global disease activity (SLEDAI-2 K >10; IFIH1 [rs1990760], STAT4 [rs3021866], IRF8 [rs903202, rs1568391, rs6638]), and mucocutaneous involvement (TLR7 [rs3853839], IFIH1 [rs11891191, rs1990760]). This study suggests T1IFN-associated polymorphisms and gene:gene interrelations in jSLE. Genotyping of jSLE patients may allow for individualized treatment and care
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|a Journal Article
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|a Review
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|a Epistasis
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|a Interferon
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|a Juvenile-onset systemic lupus erythematosus
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|a QTL
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|a SLEDAI-2 K
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| 650 |
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|a jSLE
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| 650 |
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|a Interferon-Induced Helicase, IFIH1
|2 NLM
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| 650 |
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|a EC 3.6.4.13
|2 NLM
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| 650 |
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|a Interferon Type I
|2 NLM
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| 650 |
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|a Toll-Like Receptor 7
|2 NLM
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| 650 |
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|a Interferon Regulatory Factors
|2 NLM
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| 650 |
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|a MicroRNAs
|2 NLM
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| 700 |
1 |
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|a Charras, Amandine
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Natoli, Valentina
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Fusaro, Mathieu
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Smith, Eve M D
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Beresford, Michael W
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hedrich, Christian M
|e verfasserin
|4 aut
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| 700 |
0 |
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|a UK jSLE Cohort Study
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 262(2024) vom: 15. Mai, Seite 110194
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
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|g volume:262
|g year:2024
|g day:15
|g month:05
|g pages:110194
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| 856 |
4 |
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|u http://dx.doi.org/10.1016/j.clim.2024.110194
|3 Volltext
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|a GBV_ILN_11
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| 912 |
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|a GBV_ILN_24
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| 912 |
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|a GBV_ILN_350
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|a AR
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| 952 |
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|d 262
|j 2024
|b 15
|c 05
|h 110194
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