Summary
Human leucocyte antigen (HLA)‐B48, an antigen within 7C CREG (cross‐reacting group) (Steiner et al., 2001) that cross‐reacts frequently with HLA‐B40 (i.e. HLA‐B60 and ‐B61) group of antibodies serologically, can be found in Alaskan Natives (Leffell et al., 2002), Amerindians (Martinez‐Naves et al., 1997), African Americans, Caucasians, and Oriental ethnicities (Mori et al., 1997; Schipper et al., 1997; Cao et al., 2001; Middleton et al., 2004; Hong et al., 2005; Itoh et al., 2005; Lee et al., 2005; Ogata et al., 2007). Sequencing investigations demonstrated that the common allele encoding the B48 antigen is B*4801 (Belich et al., 1992). To date, there are at least 16 WHO recognized B*48 alleles according to the most recent report from the WHO nomenclature committee (Marsh et al., 2005). Here we report a newly discovered allele B*480102, a variant of B*4801, detected in a 55‐year‐old Taiwanese patient of Minan origin (southern China).
We report here a novel HLA-B allele, B*2740, discovered in Taiwanese volunteer marrow donors. The new sequence has nucleotide variation at position 527 (T-->A) as compared to B*2708. The nucleotide change caused an amino acid substitution from valine (V) to glutamic acid (E) at codon 152. Since B*2740 carries sequence confers to HLA-Bw6 public epitope we believe that this novel B*27 allele might have been generated from a gene conversion involving a Bw4-specific allele (probably B*2704) and a Bw6-specific allele.
We report here a novel HLA-DRB1 allele, DRB1*0461, discovered in a Taiwanese volunteer marrow donor. The new sequence has nucleotide variation at positions 260 (C-->A) and 261 (C-->G), i.e. codon 58, as compared to DRB1*0408. Nucleotide change caused an amino acid substitution from alanine to glutamic acid. We believe that the gene conversion took place between DRB1*0405 and DRB1*1101 based on sequence homology and gene frequency in population studies. In comparison to DRB1*0405, DRB1*0461 has two amino acid changes at codons 57 and 58. Amino acid residue substitution at position 57 may affect peptide-binding environment at pocket P9 of the antigen-binding groove of the MHC molecule. This would have potential effect in peptide binding as well as in T-cell recognition, which could have clinical significance in bone marrow and organ transplantations.
To evaluate the association of human leukocyte antigen (HLA)-DRB1 alleles with systemic lupus erythematosus (SLE) and lupus nephritis (LN) in the Taiwanese population, and to investigate the possible association of HLA-DRB1 alleles with disease severity in LN. HLA-DRB1 alleles were studied in 105 SLE patients (82 patients with LN, 23 patients without LN) and 855 healthy controls by polymerase chain reaction and sequence-based typing assays. The frequency of the HLA class II alleles DRB1*0301 (Odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.31-3.10, Pc = 0.02) and DRB1*1501 (OR = 2.06, 95% CI = 1.36-3.13, Pc = 0.01) were both increased in SLE patients, compared to healthy controls. The frequency of DRB1*1202 was significantly lower in LN patients than in SLE patients without nephritis (OR = 0.23, 95% CI = 0.09-0.57, Pc = 0.01). No specific allele was significantly associated with an increased or decreased risk for severity of LN in this sample. In Taiwanese people, the DRB1*0301 and DRB1*1501 alleles are significant risk factors for SLE, while the DRB1*1202 allele is protective for LN.
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