BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis

• Type: Article in International Scientific Journal
• Date: 2012

Authors

Morais, A (Author) Other; Lima, B (Author) Other; Peixoto, MJ (Author) Other; Alves, H (Author) Other; Marques JA (Author) FMUP; Delgado, L (Author) FMUP

Journal

Title: Respiratory Medicine

Vol. 106

Pages: 1771-1777

ISSN: 0954-6111

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 24 Citations

Scopus - 30 Citations

Other information

Authenticus ID: P-002-2GJ

DOI: 10.1016/j.rmed.2012.08.009

Abstract (EN): A functional polymorphism within butyrophilin-like 2 (BTNL2) gene has been described as a potential risk factor for sarcoidosis. The association between chronicity and the rs2076530 SNP A allele has also been reported. This study evaluates the BTNL2 rs2076530 G/A allele associations with sarcoidosis susceptibility and disease evolution in a Portuguese cohort of patients. A case-control study of 151 patients and 150 controls was performed. Allele frequencies were compared with Chi-square test in a univariate analysis and with logistic regression in a multivariate analysis. BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA-DRB1 alleles, except in the subgroup of patients with Lofgren syndrome where the determinant allele was HLA-DRB1*03. The A allele was also increased in those with isolated thoracic disease, with no differences regarding radiological stages or disease evolution. HLA-DRB1(star)03, besides the association with Lofgren syndrome was significantly related with disease resolution. Our data confirms the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in a Portuguese population. We found independent genetic risk factors in clinically distinct disease phenotypes: BTNL2 rs2076530 A allele in patients without Lofgren syndrome or with isolated thoracic disease, and HLA-DRB1(star)03 in Lofgren syndrome or disease resolution.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7