Article
Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-α and serologic autoimmunity in lupus patients.
Journal of immunology (Baltimore, Md. : 1950) - 1 Aug 2011
Robinson Talin, Kariuki Silvia N, Franek Beverly S, Kumabe Marissa, Kumar Akaash A, Badaracco Maria, Mikolaitis Rachel A, Guerrero Galen, Utset Tammy O, Drevlow Barbara E, Zaacks Laura S, Grober James S, Cohen Lewis M, Kirou Kyriakos A, Crow Mary K, Jolly Meenakshi, Niewold Timothy B
Abstract excerpt
Increased IFN-α signaling is a heritable risk factor for systemic lupus erythematosus (SLE). IFN induced with helicase C domain 1 (IFIH1) is a cytoplasmic dsRNA sensor that activates IFN-α pathway signaling. We studied the impact of the autoimmune-disease-associated IFIH1 rs1990760 (A946T) single nucleotide polymorphism upon IFN-α signaling in SLE patients in vivo. We studied 563 SLE patients (278...
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