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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

López-Isac, Elena ; Acosta-Herrera, Marialbert ; Kerick, Martin ; Assassi, Shervin ; Satpathy, Ansuman T ; Granja, Jeffrey ; Mumbach, Maxwell R ; Beretta, Lorenzo ; Simeón, Carmen P ; Carreira, Patricia ; Ortego-Centeno, Norberto ; Castellvi, Ivan ; Bossini-Castillo, Lara ; Carmona, F David ; Orozco, Gisela ; Hunzelmann, Nicolas ; Distler, Jörg H W ; Franke, Andre ; Lunardi, Claudio ; Moroncini, Gianluca ; Gabrielli, Armando ; de Vries-Bouwstra, Jeska ; Wijmenga, Cisca ; Koeleman, Bobby P C ; Nordin, Annika ; Padyukov, Leonid ; Hoffmann-Vold, Anna-Maria ; Lie, Benedicte ; Proudman, Susanna ; Stevens, Wendy ; Nikpour, Mandana ; Vyse, Timothy ; Herrick, Ariane L ; Worthington, Jane ; Denton, Christopher P ; Allanore, Yannick ; Brown, Matthew A ; Radstake, Timothy R D J ; Fonseca, Carmen ; Chang, Howard Y ; Mayes, Maureen D ; Martin, Javier

Nature communications, 2019-10, Vol.10 (1), p.4955-14, Article 4955 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Autor: López-Isac, Elena ; Acosta-Herrera, Marialbert ; Kerick, Martin ; Assassi, Shervin ; Satpathy, Ansuman T ; Granja, Jeffrey ; Mumbach, Maxwell R ; Beretta, Lorenzo ; Simeón, Carmen P ; Carreira, Patricia ; Ortego-Centeno, Norberto ; Castellvi, Ivan ; Bossini-Castillo, Lara ; Carmona, F David ; Orozco, Gisela ; Hunzelmann, Nicolas ; Distler, Jörg H W ; Franke, Andre ; Lunardi, Claudio ; Moroncini, Gianluca ; Gabrielli, Armando ; de Vries-Bouwstra, Jeska ; Wijmenga, Cisca ; Koeleman, Bobby P C ; Nordin, Annika ; Padyukov, Leonid ; Hoffmann-Vold, Anna-Maria ; Lie, Benedicte ; Proudman, Susanna ; Stevens, Wendy ; Nikpour, Mandana ; Vyse, Timothy ; Herrick, Ariane L ; Worthington, Jane ; Denton, Christopher P ; Allanore, Yannick ; Brown, Matthew A ; Radstake, Timothy R D J ; Fonseca, Carmen ; Chang, Howard Y ; Mayes, Maureen D ; Martin, Javier
Assuntos: Autoimmune diseases ; Basic Medicine ; Bayes Theorem ; Bayesian network ; c terminal src kinase ; CD4+ T lymphocyte ; cell ; cell component ; cell expansion ; centromere antibody ; Chromatin Immunoprecipitation ; Clinical Medicine ; cluster of differentiation 247 ; cohort analysis ; complexin 3 ; controlled study ; diacylglycerol kinase theta ; disease incidence ; epigenetics ; Fibrosis ; Fibrosis - genetics ; Functional analysis ; gasdermin A ; gene identification ; gene locus ; genetic analysis ; genome ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; High-Throughput Nucleotide Sequencing ; histone 3 lysine 27 ; human ; Humans ; immune response ; interferon consensus sequence binding protein ; interleukin 12 receptor subunit beta 1 ; interleukin 12 receptor subunit beta 2 ; Klinisk medicin ; lectin, mannose binding 1 like ; Loci ; major clinical study ; Medical and Health Sciences ; Medical Genetics ; Medicin och hälsovetenskap ; Medicinsk genetik ; Medicinska och farmaceutiska grundvetenskaper ; meta-analysis ; mitochondrial ribosomal protein s7 ; molecular genetics ; mortality ; Nucleic Acid Conformation ; nucleoporin 85 ; ORMDL sphingolipid biosynthesis regulator 3 ; Pathways ; phosphopantothenoylcysteine decarboxylase ; Polymorphism, Single Nucleotide ; post GPI attachment to proteins 3 ; proteasome 26S subunit, non-ATPase 3 ; protein acetylation ; Reumatologi och inflammation ; rheumatic disease ; Rheumatic diseases ; Rheumatology and Autoimmunity ; Rho GTPase activating protein 31 ; ribonuclease P and MRP subunit p25 ; risk factor ; Scleroderma ; Scleroderma, Systemic - genetics ; Sequence Analysis, DNA ; single nucleotide polymorphism ; STAT4 protein ; Systemic sclerosis ; T lymphocyte ; Target recognition ; TNFAIP3 interacting protein 1 ; transcription factor ; unclassified drug ; vascular disease ; Vascular diseases ; Vascular Diseases - genetics ; zona pellucida binding protein 2
É parte de: Nature communications, 2019-10, Vol.10 (1), p.4955-14, Article 4955
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
Editor: England: Nature Publishing Group
Idioma: Inglês;Norueguês

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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

England: Nature Publishing Group

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