Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition
- Equal contributors
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
BMC Medical Genetics 2013, 14:52 doi:10.1186/1471-2350-14-52Published: 15 May 2013
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.
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.
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.
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.