Article
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
Nature communications - 31 Oct 2019
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
Abstract excerpt
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...
Topics
- Bayes Theorem
- Chromatin Immunoprecipitation
- Fibrosis
- Genome-Wide Association Study
- High-Throughput Nucleotide Sequencing