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

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MARC

Lopez-Isac, ECSIC Institute of Parasitology and Biomedicine Lopez-Neyra (IPBLN) (author)

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

Article/chapterEnglish2019

Publisher, publication year, extent ...

2019-10-31
Springer Science and Business Media LLC,2019

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:142183768
http://kipublications.ki.se/Default.aspx?queryparsed=id:142183768URI
https://doi.org/10.1038/s41467-019-12760-yDOI
https://lup.lub.lu.se/record/6129c51f-ac60-4368-9fc9-9dfdcdbb3f8fURI

Supplementary language notes

Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Reumatologi och inflammation hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Rheumatology and Autoimmunity hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
c terminal src kinase
centromere antibody
cluster of differentiation 247
complexin 3
diacylglycerol kinase theta
gasdermin A
histone 3 lysine 27
interferon consensus sequence binding protein
interleukin 12 receptor subunit beta 1
interleukin 12 receptor subunit beta 2
lectin, mannose binding 1 like
mitochondrial ribosomal protein s7
nucleoporin 85
ORMDL sphingolipid biosynthesis regulator 3
phosphopantothenoylcysteine decarboxylase
post GPI attachment to proteins 3
proteasome 26S subunit, non-ATPase 3
Rho GTPase activating protein 31
ribonuclease P and MRP subunit p25
STAT4 protein
TNFAIP3 interacting protein 1
transcription factor
unclassified drug
zona pellucida binding protein 2
cell
cell component
disease incidence
genetic analysis
genome
meta-analysis
mortality
Article
Bayesian network
CD4+ T lymphocyte
cell expansion
cohort analysis
controlled study
epigenetics
fibrosis
gene identification
gene locus
genome-wide association study
human
immune response
major clinical study
molecular genetics
protein acetylation
rheumatic disease
risk factor
single nucleotide polymorphism
systemic sclerosis
T lymphocyte
vascular disease

Added entries (persons, corporate bodies, meetings, titles ...)

Acosta-Herrera, M (author)
Kerick, M (author)
Assassi, S (author)
Satpathy, AT (author)
Granja, J (author)
Mumbach, MR (author)
Beretta, L (author)
Simeon, CP (author)
Carreira, P (author)
Ortego-Centeno, N (author)
Castellvi, I (author)
Bossini-Castillo, L (author)
Carmona, FD (author)
Orozco, G (author)
Hunzelmann, N (author)
Distler, JHW (author)
Franke, A (author)
Lunardi, C (author)
Moroncini, G (author)
Gabrielli, A (author)
de Vries-Bouwstra, J (author)
Wijmenga, C (author)
Koeleman, BPC (author)
Nordin, AKarolinska Institutet (author)
Padyukov, LKarolinska Institutet (author)
Hoffmann-Vold, AM (author)
Lie, B (author)
Rios, R (author)
Callejas, JL (author)
Vargas-Hitos, JA (author)
Garcia-Portales, R (author)
Camps, MT (author)
Fernandez-Nebro, A (author)
Gonzalez-Escribano, MF (author)
Garcia-Hernandez, FJ (author)
Castillo, MJCSIC Institute of Parasitology and Biomedicine Lopez-Neyra (IPBLN) (author)
Aguirre, MA (author)
Gomez-Gracia, I (author)
Fernandez-Gutierrez, B (author)
Rodriguez-Rodriguez, L (author)
de la Pena, PG (author)
Vicente, E (author)
Andreu, JL (author)
de Castro, MF (author)
Lopez-Longo, FJ (author)
Martinez, L (author)
Fonollosa, V (author)
Guillen, A (author)
Espinosa, G (author)
Tolosa, C (author)
Pros, A (author)
Rodriguez-Carballeira, M (author)
Narvaez, FJ (author)
Rubio-Rivas, M (author)
Ortiz-Santamaria, V (author)
Madronero, AB (author)
Gonzalez-Gay, MA (author)
Diaz, B (author)
Trapiella, L (author)
Sousa, A (author)
Egurbide, MV (author)
Fanlo-Mateo, P (author)
Saez-Comet, L (author)
Diaz, F (author)
Hernandez, V (author)
Beltran, E (author)
Roman-Ivorra, JA (author)
Grau, E (author)
Alegre-Sancho, JJ (author)
Freire, M (author)
Blanco-Garcia, FJ (author)
Oreiro, N (author)
Witte, T (author)
Kreuter, A (author)
Riemekasten, G (author)
Airo, P (author)
Magro, C (author)
Voskuyl, AE (author)
Vonk, MC (author)
Hesselstrand, RogerLund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Hjärt-lungsjukdom - information, stöd och bemötande,Forskargrupper vid Lunds universitet,Forskargruppen för systemisk skleros, Lund,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Cardiopulmonary disease - information, support and reception,Lund University Research Groups,Lund Systemic Sclerosis Research Group(Swepub:lu)reum-rhe (author)
Proudman, S (author)
Stevens, W (author)
Nikpour, M (author)
Zochling, J (author)
Sahhar, J (author)
Roddy, J (author)
Nash, P (author)
Tymms, K (author)
Rischmueller, M (author)
Lester, S (author)
Vyse, T (author)
Herrick, AL (author)
Worthington, J (author)
Denton, CP (author)
Allanore, Y (author)
Brown, MA (author)
Radstake, TRDJ (author)
Fonseca, C (author)
Chang, HY (author)
Mayes, MD (author)
Martin, J (author)
Karolinska InstitutetCSIC Institute of Parasitology and Biomedicine Lopez-Neyra (IPBLN) (creator_code:org_t)
European Scleroderma Group

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In:Nature communications: Springer Science and Business Media LLC10:1, s. 4955-2041-1723

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By the author/editor: Lopez-Isac, E; Acosta-Herrera, ...; Kerick, M; Assassi, S; Satpathy, AT; Granja, J; show more...; Mumbach, MR; Beretta, L; Simeon, CP; Carreira, P; Ortego-Centeno, ...; Castellvi, I; Bossini-Castillo ...; Carmona, FD; Orozco, G; Hunzelmann, N; Distler, JHW; Franke, A; Lunardi, C; Moroncini, G; Gabrielli, A; de Vries-Bouwstr ...; Wijmenga, C; Koeleman, BPC; Nordin, A; Padyukov, L; Hoffmann-Vold, A ...; Lie, B; Rios, R; Callejas, JL; Vargas-Hitos, JA; Garcia-Portales, ...; Camps, MT; Fernandez-Nebro, ...; Gonzalez-Escriba ...; Garcia-Hernandez ...; Castillo, MJ; Aguirre, MA; Gomez-Gracia, I; Fernandez-Gutier ...; Rodriguez-Rodrig ...; de la Pena, PG; Vicente, E; Andreu, JL; de Castro, MF; Lopez-Longo, FJ; Martinez, L; Fonollosa, V; Guillen, A; Espinosa, G; Tolosa, C; Pros, A; Rodriguez-Carbal ...; Narvaez, FJ; Rubio-Rivas, M; Ortiz-Santamaria ...; Madronero, AB; Gonzalez-Gay, MA; Diaz, B; Trapiella, L; Sousa, A; Egurbide, MV; Fanlo-Mateo, P; Saez-Comet, L; Diaz, F; Hernandez, V; Beltran, E; Roman-Ivorra, JA; Grau, E; Alegre-Sancho, J ...; Freire, M; Blanco-Garcia, F ...; Oreiro, N; Witte, T; Kreuter, A; Riemekasten, G; Airo, P; Magro, C; Voskuyl, AE; Vonk, MC; Hesselstrand, Ro ...; Proudman, S; Stevens, W; Nikpour, M; Zochling, J; Sahhar, J; Roddy, J; Nash, P; Tymms, K; Rischmueller, M; Lester, S; Vyse, T; Herrick, AL; Worthington, J; Denton, CP; Allanore, Y; Brown, MA; Radstake, TRDJ; Fonseca, C; Chang, HY; Mayes, MD; Martin, J; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Rheumatology and ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Nature communica ...

By the university: Karolinska Institutet; Lund University

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