Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II alleles. (4th October 2016)

• Record Type: Journal Article
• Authors: Morais, Antonio; Lima, Bruno; Alves, Helena; Melo, Natalia; Mota, Patricia C.; Marques, Agostinho; Delgado, Luis
• Is Part Of: Clinical respiratory journal. Volume 12:Number 2(2018)
• Page Start: 532
• Page End: 537
• Publication Date: 2016-10-04
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiratory organs -- Periodicals; 616.24
• DOI: 10.1111/crj.12559
• Languages: English
• ISSNs: 1752-6981

Abstract

Abstract: Background: A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene–gene interactions. Methods: We studied 138 unrelated Caucasian sarcoidosis patients (78 women, 56.5%; mean age, 37.2 ± 12.1 years). Disease that persisted after 2 years was considered chronic. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A SNPs using TaqMan Real‐Time PCR Assays. HLA class I/II alleles were typed using PCR sequence‐specific primers. Results: Sixty‐six patients experienced disease resolution and 72 (52%) developed chronic disease. Comparison of rs1049550 and rs2076530 allele frequencies showed no significant differences. Only the HLA DRB1*03 allele was significantly associated with disease resolution (21.2% vs 4.9% for chronic disease; RR = 0.35; P < .01 after Bonferroni correction). In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. No significant interactions were found in any of the logistic regression analyses. Conclusions: In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years' follow‐up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530 .