TY - JOUR T1 - Specific association of <em>IL17A</em> genetic variants with panuveitis JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 566 LP - 570 DO - 10.1136/bjophthalmol-2014-306106 VL - 99 IS - 4 AU - Arkaitz Mucientes AU - Ana Márquez AU - Miguel Cordero-Coma AU - José Manuel Martín-Villa AU - Marina Begoña Gorroño-Echebarría AU - Ricardo Blanco AU - David Díaz Valle AU - José Manuel Benítez-del-Castillo AU - María José del Rio AU - Ana Blanco AU - Jose Luis Olea AU - Yolanda Cordero AU - María José Capella AU - Jacobo Gonzalez AU - Manuel Díaz-Llopis AU - Norberto Ortego-Centeno AU - Alfredo Adán AU - Ioana Ruiz-Arruza AU - Víctor Llorenç AU - Alejandro Fonollosa AU - Javier Martín Y1 - 2015/04/01 UR - http://bjo.bmj.com/content/99/4/566.abstract N2 - Background/aims A pathogenic role of Th17 cells in uveitis has become clear in recent years. Therefore, in the present study, we aimed to evaluate the possible influence of the IL17A locus on susceptibility to non-anterior uveitis and its main clinical subgroups. Methods Five IL17A polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), selected by tagging, were genotyped using TaqMan assays in 353 Spanish patients with non-anterior uveitis and 1851 ethnically matched controls. Results The case/control analysis yielded a consistent association between two of the analysed genetic variants, rs8193036 and rs2275913, and the presence of panuveitis under a dominant model (pFDR=2.86E-03, OR=2.26, 95% CI 1.42 to 3.59 and pFDR=0.033, OR=1.83, 95% CI 1.13 to 2.97, respectively). Subsequently, a specific association of both polymorphisms with the diffuse form of the disease was evident in the subphenotype analysis when considering this same genetic model (panuveitis vs posterior and intermediate uveitis: rs8193036, p=0.020; rs2275913, p=0.038). Independent effects of rs8193036 and rs2275913 were observed by conditional regression analysis. Conclusions Polymorphisms within the IL17A locus show a novel association with panuveitis. Our data agree with the elevated levels of this cytokine that are found in patients with uveitis, supporting a crucial role of Th17 cells in this pathology. Subtitle Our results clearly evidenced the role of IL17A as a novel genetic risk factor for panuveitis, thus suggesting the implication of Th17 cells in the extensive inflammation of the uveal tract that occurs in this subtype of uveitis. ER -