Article
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Human molecular genetics - 15 Jun 2012
Martin Jose-Ezequiel, Broen Jasper C, Carmona F David, Teruel Maria, Simeon Carmen P, Vonk Madelon C, van 't Slot Ruben, Rodriguez-Rodriguez Luis, Vicente Esther, Fonollosa Vicente, Ortego-Centeno Norberto, González-Gay Miguel A, García-Hernández Francisco J, de la Peña Paloma García, Carreira Patricia, Voskuyl Alexandre E, Schuerwegh Annemie J, van Riel Piet L C M, Kreuter Alexander, Witte Torsten, Riemekasten Gabriella, Airo Paolo, Scorza Raffaella, Lunardi Claudio, Hunzelmann Nicolas, Distler Jörg H W, Beretta Lorenzo, van Laar Jacob, Chee Meng May, Worthington Jane, Herrick Ariane, Denton Christopher, Tan Filemon K, Arnett Frank C, Assassi Shervin, Fonseca Carmen, Mayes Maureen D, Radstake Timothy R D J, Koeleman Bobby P C, Martin Javier
Abstract excerpt
Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication...
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