ClinVar

Rossman et al. (2003) concluded that HLA-DRB1 alleles were differentially distributed between cases of sarcoidosis (181000) and case-matched controls. The HLA-DRB1*1101 allele was associated (P less than 0.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites. Phenylalanine-47 (F47) of the HLA-DRB1 allele was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites; it was present on the 3 alleles most associated with sarcoidosis (HLA-DRB1*1101, HLA-DRB1*1201, and HLA-DRB1*1501). F47 may be the most important amino acid residue associated with peptide binding in sarcoidosis. Rossman et al. (2003) quoted evidence that amino acid residues at position 47 would affect pocket 7, and mutations of the amino acid residues of pocket 7 peptides affect T-cell recognition.