Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus.

López Isac E1,; Bossini Castillo, L; Guerra, Sg; Denton, C; Fonseca, C; Assassi, S; Zhou, X; Mayes, Md; Simeón, Cp; Ortego Centeno, N; Castellví, I; Carreira, P; Spanish Scleroderma Group,; Gorlova, O; Beretta, L; Santaniello, A; Lunardi, Claudio; Hesselstrand, R; Nordin, A; Riemekasten, G; Witte, T; Hunzelmann, N; Kreuter, A; Distler, Jh; Voskuyl, Ae; de Vries Bouwstra, J; Koeleman, Bp; Herrick, A; Worthington, J; Radstake, Tr; Martin, J.

doi:10.1002/art.38870

Genome-wide association studies (GWAS) have iden- tified several immune-related loci associated with systemic sclerosis (SSc), which clearly supports the idea that the im- mune system plays an important role in the disease etiology. We thus report for the first time the association of IL12RB1 with SSc and add a novel IL-12 pathway–related gene to the list of SSc susceptibility loci. These results highlight the special relevance of this pathway in SSc pathophysiology and its integra- tion in the SSc genetic susceptibility context and suggest that blocking this pathway could be a possible new therapeutic target in an orphan disease such as scleroderma.

Titolo:	Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus.
Autori:	López Isac E1 Bossini Castillo L Guerra SG Denton C Fonseca C Assassi S Zhou X Mayes MD Simeón CP Ortego Centeno N Castellví I Carreira P Spanish Scleroderma Group Gorlova O Beretta L Santaniello A LUNARDI, Claudio Hesselstrand R Nordin A Riemekasten G Witte T Hunzelmann N Kreuter A Distler JH Voskuyl AE de Vries Bouwstra J Koeleman BP Herrick A Worthington J Radstake TR Martin J. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2014
Rivista:	ARTHRITIS & RHEUMATOLOGY
Abstract:	Genome-wide association studies (GWAS) have iden- tified several immune-related loci associated with systemic sclerosis (SSc), which clearly supports the idea that the im- mune system plays an important role in the disease etiology. We thus report for the first time the association of IL12RB1 with SSc and add a novel IL-12 pathway–related gene to the list of SSc susceptibility loci. These results highlight the special relevance of this pathway in SSc pathophysiology and its integra- tion in the SSc genetic susceptibility context and suggest that blocking this pathway could be a possible new therapeutic target in an orphan disease such as scleroderma.
Handle:	http://hdl.handle.net/11562/880009
Appare nelle tipologie:	01.01 Articolo in Rivista

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