Open Access Research article

Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition

María Carmen Cénit1*, Ana Márquez1, Miguel Cordero-Coma2, Alejandro Fonollosa3, Alfredo Adán4, Agustín Martínez-Berriotxoa3, Victor Llorenç4, David Díaz Valle5, Ricardo Blanco6, Joaquín Cañal7, Manuel Díaz-Llopis8, José Luis García Serrano9, Enrique de Ramón10, María José del Rio11, Marina Begoña Gorroño- Echebarría12, José Manuel Martín-Villa13, Norberto Ortego-Centeno14 and Javier Martín1

Author Affiliations

1 Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento s/n 18100-Armilla, Granada, Spain

2 Ophthalmology Department, Hospital de León, León, Spain

3 Internal Medicine Department, Hospital de Cruces, Bilbao, Spain

4 Ophthalmology Department, Hospital Clínic, Barcelona, Spain

5 Ophthalmology Department, Hospital Clínico San Carlos, Madrid, Spain

6 Rheumatology Department, Hospital Marqués de Valdecilla, IFIMAV, Santander, Spain

7 Ophthalmology Department, Hospital Marqués de Valdecilla, Santander, Spain

8 Ophthalmology Department, Hospital Universitario La Fe, Valencia, Spain

9 Ophthalmology Department, Hospital Clínico San Cecilio, Granada, Spain

10 Internal Medicine Department, Hospital Carlos Haya, Málaga, Spain

11 Ophthalmology Department, Hospital Carlos Haya, Málaga, Spain

12 Ophthalmology Department, Hospital Universitario Principe de Asturias, Alcalá de Henares, Spain

13 Immunology Department, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain

14 Internal Medicine Department, Hospital Clínico San Cecilio, Granada, Spain

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BMC Medical Genetics 2013, 14:52  doi:10.1186/1471-2350-14-52

Published: 15 May 2013

Abstract

Background

Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition.

Methods

A total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays.

Results

A statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P-value=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.

Conclusion

Our results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility.

Keywords:
Uveitis; IL2; IL21; IL2RA; IL2RB; Polymorphisms; Association study; Genetic susceptibility