RESUMO
The novel allele HLA-B*44:48:02 differs from HLA-B*44:48:01 by one synonymous nucleotide substitution in exon 3.
Assuntos
Antígenos HLA-B , Nucleotídeos , Humanos , Alelos , Éxons/genética , Análise de Sequência de DNA , Antígenos HLA-B/genéticaRESUMO
Novel HLA-B*55:01:31, HLA-C*07:1113 alleles and confirmatory HLA-C*12:392 allele were detected during the HLA typing process.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Alelos , Antígenos HLA-C/genética , Antígenos HLA-B/genética , Teste de HistocompatibilidadeRESUMO
Nucleotide substitutions in the 5'UTR and exon 2 of HLA-B*35:01:01:05 result in a novel allele, HLA-B*35:01:77.
Assuntos
Medula Óssea , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Éxons/genética , Federação Russa , Doadores de Tecidos , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
The novel HLA-B*13:191 allele was detected during the HLA typing for kidney transplantation.
Assuntos
Antígenos HLA-B , Transplante de Rim , Humanos , Alelos , Antígenos HLA-B/genética , Genes MHC Classe I , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Identification of the novel HLA-A*02:1148 and HLA-B*44:386 alleles by next-generation sequencing.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-B/genéticaRESUMO
Behçet's disease (BD) manifests as an autoimmune disorder featuring recurrent ulcers and multi-organ involvement, influenced by genetic factors associated with both HLA and non-HLA genes, including TNF-α and ERAP1. The study investigated the susceptible alleles of both Class I and II molecules of the HLA gene in 56 Thai BD patients and 192 healthy controls through next-generation sequencing using a PacBio kit. The study assessed 56 BD patients, primarily females (58.9%), revealing diverse manifestations including ocular (41.1%), vascular (35.7%), skin (55.4%), CNS (5.4%), and GI system (10.7%) involvement. This study found associations between BD and HLA-A*26:01:01 (OR 3.285, 95% CI 1.135-9.504, P-value 0.028), HLA-B*39:01:01 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-B*51:01:01 (OR 3.033, 95% CI 1.135-8.103, P-value 0.027), HLA-B*51:01:02 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-C*14:02:01 (OR 3.485, 95% CI 1.339-9.065, P-value 0.01), HLA-DRB1*14:54:01 (OR 1.924, 95% CI 1.051-3.522, P-value 0.034), and HLA-DQB1*05:03:01 (OR 3.00, 95% CI 1.323-6.798, P-value 0.008). However, after Bonferroni correction none of these alleles were found to be associated with BD. In haplotype analysis, we found a strong linkage disequilibrium in HLA-B*51:01:01, HLA-C*14:02:01 (P-value 0.0, Pc-value 0.02). Regarding the phenotype, a significant association was found between HLA-DRB1*14:54:01 (OR 11.67, 95% CI 2.86-47.57, P-value 0.001) and BD with ocular involvement, apart from this, no distinct phenotype-HLA association was documented. In summary, our study identifies specific HLA associations in BD. Although limited by a small sample size, we acknowledge the need for further investigation into HLA relationships with CNS, GI, and neurological phenotypes in the Thai population.
Assuntos
Síndrome de Behçet , Feminino , Humanos , Síndrome de Behçet/epidemiologia , Cadeias HLA-DRB1/genética , Sequenciamento de Nucleotídeos em Larga Escala , Antígenos HLA-C/genética , Tailândia , Antígenos HLA-B/genética , Alelos , Tecnologia , Predisposição Genética para Doença , Aminopeptidases/genética , Antígenos de Histocompatibilidade MenorRESUMO
The HLA-B*40:538 allele differs from HLA-B*40:01:02:01 at position 905 CâT in exon 5.
Assuntos
Genes MHC Classe I , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Éxons/genética , Antígenos HLA-B/genéticaRESUMO
HLA-B*58:02:04 differs from HLA-B*58:02:01 by one synonymous nucleotide in codon 215 in exon 4.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Códon , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
BACKGROUND: Allopurinol has been causing substantial morbidity and mortality particularly in Asian population by producing cutaneous adverse drug reactions (cADRs). Nonetheless, there are no data describing whether other genetics are a valid marker for prediction of allopurinol-induced cADRs patients in addition to HLA-B*58:01 allele. The goal of this study was to identify suitable single nucleotide polymorphisms (SNPs) for allopurinol induced cADRs among Thai patients. METHODS: We conducted a case-control association study after enrolling 57 Thai patients with allopurinol induced cADRs and 101 allopurinol-tolerant controls. The genetic biomarkers and associated SNPs located on chromosome 6p21 were examined by TaqMan® SNP genotyping assays in both the cases and the controls. RESULTS: Out of fifteen SNPs in nine genes, we found four combined SNPs (rs3099844 of HCP5, rs9263726 of PSORS1C1, rs9263733 of POLR2LP, and rs9263745 of CCHCR1) were significantly associated with allopurinol-induced cADRs compared to the tolerant controls (OR 73.2; 95% CI 24.2-266.8; P = 1.9 × 10- 24). The overall sensitivity, specificity, positive predictive value and negative predictive value of these combinations were 84%, 94%, 9%, and 100%, respectively. However, the variant alleles of these SNP combinations were detected in 89.5% (51/57) of the cases. Moreover, the HLA-B*58:01 allele was observed in 86.0% of patients with allopurinol-induced cADRs, but only in 4.0% of tolerant controls (OR: 137.2; 95% CI: 38.3-670.5 and p-value = 1.7 × 10- 27). CONCLUSIONS: Thus, this research confirms the association between the specific HLA-B*58:01 allele and all phenotypes of allopurinol-induced cADRs in Thais. Furthermore, there was found the combined four SNPs (rs3099844, rs9263726, rs9263733, and rs9263745) could be used as alternative novel biomarkers for predicting cADRs in patients taking allopurinol.
Assuntos
Alopurinol , Polimorfismo de Nucleotídeo Único , Humanos , Alopurinol/efeitos adversos , Masculino , Feminino , Tailândia , Pessoa de Meia-Idade , Estudos de Casos e Controles , Idoso , Adulto , Farmacogenética , Antígenos HLA-B/genética , Predisposição Genética para Doença , Variantes Farmacogenômicos , População do Sudeste AsiáticoRESUMO
HLA-B*56:94 differs from HLA-B*56:05:01 by two non-synonymous nucleotide substitutions in exon 1 and synonymous nucleotide substitutions in exon 1 and exon 2.
Assuntos
Genômica , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , NucleotídeosRESUMO
Two nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-B*35:01:01:39 and -B*35:03:01:32.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Íntrons , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
HLA-B*46:01:42 differs from HLA-B*46:01:01:01 by one nucleotide in exon 5.
Assuntos
Genes MHC Classe I , Nucleotídeos , Humanos , Alelos , Antígenos HLA-B/genética , China , Análise de Sequência de DNARESUMO
Identification of four new HLA alleles (B*27:265, B*35:569, DRB1*08:117, and DPB1*1435:01) in Brazilian bone marrow donors.
Assuntos
Antígenos HLA-B , Humanos , Frequência do Gene , Alelos , Cadeias beta de HLA-DP/genética , Cadeias HLA-DRB1/genética , Antígenos HLA-B/genéticaRESUMO
OBJECTIVE: Carbonic anhydrase inhibitors (CAIs) are intraocular pressure-reducing medications used in ophthalmology. Human leukocyte antigen-B*59:01 (HLA-B*59:01) is strongly associated with CAI-induced severe cutaneous adverse reactions (SCARs). This study aimed to develop and validate a rapid and economical screening method for HLA-B*59:01 to prevent carbonic anhydrase inhibitor-induced SCARs. METHODS: Duplex allele-specific polymerase chain reaction (PCR) with an internal control was performed for HLA-B*59:01 genotyping. The accuracy of duplex allele-specific PCR for HLA-B*59:01 genotyping was evaluated in 200 blood samples, using sequence-based typing (SBT) as the reference method. RESULTS: In total, 50 HLA-B*59:01-positive and 150 HLA-B*59:01-negative results obtained using duplex allele-specific PCR were in complete agreement with the SBT results. CONCLUSION: Duplex allele-specific PCR is a rapid, reliable, and economical assay for screening the HLA-B*59:01 allele.
Assuntos
Inibidores da Anidrase Carbônica , Antígenos HLA-B , Humanos , Alelos , Inibidores da Anidrase Carbônica/efeitos adversos , Genótipo , Antígenos HLA-B/genéticaRESUMO
HLA-B*38:103N differs from HLA-B*38:02:01:01 by one nucleotide in exon 3.
Assuntos
Antígenos HLA-B , Nucleotídeos , Humanos , Alelos , Análise de Sequência de DNA , Antígenos HLA-B/genética , ChinaRESUMO
HLA-B*58:01:40 differs from HLA-B*58:01:01 by a single nucleotide change in exon 3, 507 C- > T (codon 145.3 CGC- > CGT).
Assuntos
Povo Asiático , Genes MHC Classe I , Humanos , Alelos , Povo Asiático/genética , Antígenos HLA-B/genética , ChinaAssuntos
Metionina , Sinais Direcionadores de Proteínas , Humanos , Alelos , Racemetionina , Antígenos HLA-B/genéticaRESUMO
HLA-B*41:02:01:11 and -C*08:266 were detected in a solid organ recipient during the HLA typing process.
Assuntos
Genes MHC Classe I , Genômica , Humanos , Alelos , Antígenos HLA-B/genética , Teste de HistocompatibilidadeRESUMO
Nucleotide substitutions in codons -1 and 84 of HLA-B*40:01:01 result in a novel allele, HLA-B*40:01:35.
Assuntos
Povo Asiático , Genes MHC Classe I , Humanos , Alelos , Povo Asiático/genética , Antígenos HLA-B/genética , NucleotídeosRESUMO
HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.
