Bronchoalveolar lavage characteristics correlate with HLA tag SNPs in patients with Löfgren’s syndrome and other sarcoidosis

Abstract

Genetic susceptibility for sarcoidosis and Löfgren's syndrome (LS) has been associated with prognosis. Human leukocyte antigen (HLA)-DRB1*03 is over-represented in LS, and is associated with a good prognosis, whereas HLA-DRB1*15-positive patients have a more chronic course of sarcoidosis. These HLA-DRB1 types can be easily tagged by single nucleotide polymorphisms (SNPs). Our aim was to evaluate the association between these tag SNPs and bronchoalveolar lavage (BAL) characteristics. In 29 patients, both complete HLA-DRB1* locus genotyping and SNP tagging was performed in parallel. HLA-DRB1 type was inferred from the presence of *03 tag rs2040410 allele A and referred to as *03. HLA-DRB1*15 was inferred from the presence of tag SNP rs3135388 allele A and referred to as *15. For BAL analysis, 122 patients with LS and 165 patients with non-LS sarcoidosis were included. BAL lymphocyte subsets were analyzed by flow cytometry. The presence of tag SNPs completely corresponded with HLA-DRB1*03/*15 genotypes in all 29 patients in whom both

HLA class II variants defined by next generation sequencing are associated with sarcoidosis in Korean patients

“…By contrast, there are important positive aspects of our study. So far, there have been only a few reports investigating the role of polymorphisms in HLA loci in sarcoidosis, where high resolution (i.e., very precise) genotyping methods were used 25 . However, the greatest strength of our study is that HLA in sarcoidosis has not been investigated in the Korean population at all, irrespective of precision level.…”

Simultaneous testing of immunological sensitization to multiple antigens in sarcoidosis reveals an association with inorganic antigens specifically related to a fibrotic phenotype

“…Presence of HLA-DRB1*0301 and HLA-DRB1*1501 alleles was determined for sarcoidosis patients from whom residual DNA was available. Tag single nucleotide polymorphisms (SNPs) rs2040410A and rs3135388A were used to capture HLA-DRB1*0301 and HLA-DRB1*1501, respectively, using the methods described by Karakaya et al [14].…”