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Specific association of IL17A genetic variants with panuveitis
  1. Arkaitz Mucientes1,
  2. Ana Márquez1,2,
  3. Miguel Cordero-Coma3,
  4. José Manuel Martín-Villa4,
  5. Marina Begoña Gorroño-Echebarría5,
  6. Ricardo Blanco6,
  7. David Díaz Valle7,
  8. José Manuel Benítez-del-Castillo7,
  9. María José del Rio8,
  10. Ana Blanco9,
  11. Jose Luis Olea10,
  12. Yolanda Cordero11,
  13. María José Capella12,
  14. Jacobo Gonzalez13,
  15. Manuel Díaz-Llopis14,
  16. Norberto Ortego-Centeno2,
  17. Alfredo Adán15,
  18. Ioana Ruiz-Arruza16,
  19. Víctor Llorenç15,
  20. Alejandro Fonollosa17,
  21. Javier Martín1
  1. 1Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain
  2. 2Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain
  3. 3Ophthalmology Department, Hospital de León, IBIOMED, Universidad de León, León, Spain
  4. 4Immunology Department, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain
  5. 5Ophthalmology Department, Hospital Universitario Principe de Asturias, Alcalá de Henares, Spain
  6. 6Rheumatology Department, Hospital Marqués de Valdecilla, IDIVAL, Santander, Spain
  7. 7Ophthalmology Department, Hospital Clínico San Carlos, Madrid, Spain
  8. 8Ophthalmology Department, Hospital Carlos Haya, Málaga, Spain
  9. 9Ophthalmology Department, Hospital Donostia, San Sebastián (Guipúzcoa), Spain
  10. 10Ophthalmology Department, Hospital Son Espases, Palma de Mallorca, Spain
  11. 11Ophthalmology Department, Hospital Universitario Rio Hortega, Valladolid, Spain
  12. 12Institut Universitari Barraquer, Universitat Autònoma de Barcelona, Barcelona, Spain
  13. 13Ophthalmology Department, Hospital de la Princesa, Madrid, Spain
  14. 14Ophthalmology Department, Hospital La Fe, Universidad de Valencia, Valencia, Spain
  15. 15Ophthalmology Department, Hospital Clinic, Barcelona, Spain
  16. 16Autoimmune Diseases Research Unit, Internal Medicine Department, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, Spain
  17. 17Ophthalmology Department, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, Spain
  1. Correspondence to Dr Ana Márquez, Instituto de Parasitología y Biomedicina López-Neyra. Consejo Superior de Investigaciones Científicas. Parque Tecnológico Ciencias de la Salud. Avenida del Conocimiento s/n 18016-Armilla (Granada), Spain; anamaort{at}


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.

  • Genetics
  • Immunology
  • Inflammation

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