Thirty-six novel human leukocyte antigen (HLA) alleles are described in this article: A*9225N, A*9234, A*030106, A*0337, A*2317, A*2480, A*3023; B*070206, B*0759, B*0761, B*0765, B*150106, B*1827, B*352002, B*3585, B*3943, B*4082, B*5151; Cw*0342, Cw*0343, Cw*0344, Cw*0428, Cw*0430, Cw*0433, Cw*050104, Cw*0519, Cw*060203, Cw*070109, Cw*070202, Cw*0750, Cw*0815, Cw*120306, Cw*1409; DRB1*0336, DRB1*0473 and DRB1*1382.
The heat shock 70 kDa protein 5 (HSPA5) gene is known to be involved in stress-associated diseases. In this study, the promoter, exons, 3' untranslated region (3'UTR), and subtotal introns of the HSPA5 gene were sequenced in a sub-population of 161 healthy Han Chinese. Nine single-nucleotide polymorphisms (SNPs) including a new one (-86bp T > A from the estimated translation start site) were found and 15 haplotypes (frequencies > 1%) were inferred. Polymorphisms rs391957 and rs11355458 were completely linked in our population (r (2) = 1.00). Using this information, fellow scientists may be able to decrease the number of SNPs to be genotyped in future disease case-control studies.
This report describes the identification of a new human leukocyte antigen (HLA) class I null allele, B*9549N, resulting from a premature stop codon in exon 3.
The new HLA-A*680202 differs from HLA-A*680201 by one synonymous nucleotide substitution at position 618 (ACG --> ACT).
HLA-Cw(*)0121 allele was identified in a Chinese patient. It is identical to Cw(*)0104 except for five nucleotides changes.
The rs763361 single nucleotide polymorphism (SNP) within the CD226 gene has recently been reported as a novel susceptible locus for type 1 diabetes. The CD226 gene is implicated in the regulation of a number of cells involved in immune mechanisms leading to beta-cell destruction in type 1 diabetes. The aim of the present study was to confirm the association of the CD226 gene with type 1 diabetes in Estonian population. The TT genotype [odds ratio (OR) = 2.29, 95% confidence interval (CI) = 1.25-4.18, P = 0.0071) and the T allele (OR = 1.48, 95% CI = 1.11-1.98, P = 0.0084) of the rs763361 SNP were associated with the risk of type 1 diabetes. The current study replicates the novel association of the rs763361 SNP in susceptibility of type 1 diabetes and supports the CD226 gene as a susceptible candidate locus for type 1 diabetes outside the major histocompatibility complex region.
The HLA-DRB1*120204 allele differs by a single synonymous nucleotide change from the DRB1*120201 allele at position 203 in exon 2 from C to G.
The novel HLA-Cw*070206 allele differs from the closest allele Cw*07020101 by single nucleotide change at genomic DNA nt 877 C>T (codon 143 ACC > ACT) in exon 3.
We here report a new HLA-B allele, B*9521, which differs from B*1544 at codon 67 (TCC-->TGC).
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