|
|||||
|
|
Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus |
|
| Authors: | Orozco Gisela Eerligh Peter Sánchez Elena Zhernakova Sasha Roep Bart O González-Gay Miguel A López-Nevot Miguel A Callejas Jose L Hidalgo Carmen Pascual-Salcedo Dora Balsa Alejandro González-Escribano María F Koeleman Bobby P C Martín Javier |
| Affiliation: | aInstituto de Biomedicina, CSIC, Granada, Spain bDepartment of ImmunoHaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands cDivision of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands dServicio de Reumatología, Hospital Xeral-Calde, Lugo, Spain eServicio de Inmunlogía, Hospital Virgen de las Nieves. Granada, Spain fServicio Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain gServicio Medicina Interna. Hospital Virgen de las Nieves, Granada, Spain hServicio de Inmunología y Reumatología. Hospital La Paz. Madrid, Spain iServicio de Inmunología, Virgen del Rocío Hospital. Sevilla, Spain |
| Abstract: | The aim of this study was to test whether the functional variant rs2076530 of the BTNL2 gene confers susceptibility to the autoimmune diseases type 1 diabetes (T1D), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE). Our study populations consisted of 326 patients with T1D and 351 healthy subjects, 808 patients with RA and 1137 healthy controls, and 372 patients with SLE and 280 healthy controls. Genotyping of the BTNL2 gene rs2076530 polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5′-allele discrimination assay. We observed statistically significant differences in the distribution of BTNL2rs2076530 alleles between patients with T1D, RA, and SLE and healthy controls (p = 0.0035, 0.000003, and 0.00002, respectively), but in two divergent ways: the G allele was associated with T1D and RA, and the A allele was associated with SLE. However, the polymorphism exhibited strong linkage disequilibrium with HLA DQB1–DRB1 haplotypes previously identified as predisposing to the diseases. When the BTNL2 polymorphism was tested conditional on HLA DQB1–DRB1haplotypes, the BTNL2 effect was no longer significant in all three study populations. The BTNL2 rs2076530 polymorphism is associated with T1D, RA, and SLE because of its strong linkage disequalibrium with predisposing HLA DQB1–DRB1 haplotypes in Caucasian populations. |
| Keywords: | type 1 diabetes rheumatoid arthritis systemic lupus erythematosus BTNL2 polymorphism |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |