RESUMO
The novel HLA-C*15:274 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodos , Doadores de Tecidos , Brasil , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Sequência de BasesRESUMO
The novel HLA-C*08:275 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Brasil , Teste de Histocompatibilidade , Doadores de Tecidos , Sequência de Bases , Análise de Sequência de DNA/métodos , Alinhamento de Sequência , CódonRESUMO
Nucleotide substitution in codon 238 of HLA-C*12:02:02:01 results in a novel allele, HLA-C*12:02:53.
Assuntos
Alelos , Sequência de Bases , Códon , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Taiwan , Análise de Sequência de DNA , Povo Asiático/genética , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , Substituição de AminoácidosRESUMO
Five novel HLA-C alleles detected by next-generation sequencing: HLA-C*02:02:73, -C*03:04:106, -C*06:382, -C*07:1114Q and -C*12:408.
Assuntos
Alelos , Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Antígenos HLA-C/genética , Teste de Histocompatibilidade/métodos , Éxons , Análise de Sequência de DNA/métodosRESUMO
HLA-C*03:620 differs from the HLA-C*03:04:01:02 allele by one nucleotide substitution in the exon 3.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Códon , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , População do Leste AsiáticoRESUMO
HLA-C*07:04:29 differs from HLA-C*07:04:01:01 by a single substitution in exon 4.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Alelos , China , Sequenciamento de Nucleotídeos em Larga Escala , Antígenos HLA-C/genética , População do Leste AsiáticoRESUMO
A novel HLA-C*07 allele, now officially designated HLA-C*07:02:150, was identified by next-generation sequencing.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
The novel allele HLA-C*07:02:147 differs from HLA-C*07:02:01:01 by one synonymous nucleotide substitution in exon 2.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Éxons/genética , NucleotídeosRESUMO
HLA-C*03:94:02 differs from HLA-C*03:94:01 by a single nucleotide substitution in exon 2 (codon 17 GGA->GGG).
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Sequenciamento de Nucleotídeos em Larga Escala , ChinaRESUMO
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
Globally, SARS-CoV-2 has negatively impacted many lives and industries due to its rapid spread, severe outcomes, and the need for the implementation of lockdown strategies across the world. SARS-CoV-2 disease severity varies among different populations. Host genetics have been associated with various diseases, and their ability to alter disease susceptibility and severity. In addition, Human Leukocyte Antigen (HLA) expression levels and alleles vary significantly among ethnic groups, which might impact the host's response to SARS-CoV-2. Our previous study highlighted that HLA-A might have an effect on COVID-19 disease severity across ethnicities. Therefore, in this study, we aim to examine the effect of HLA-B and C expression levels on COVID-19 disease severity. To achieve this, we used real-time PCR to measure the HLA mRNA expression levels of SARS-CoV-2-infected individuals from a South African cohort and compared them across ethnic groups, disease outcomes, gender, comorbidities, and age. Our results show (1) that the effect of HLA-B mRNA expression levels was associated with differences in disease severity when we compare symptomatic vs. asymptomatic (p < 0.0001). While HLA-C mRNA expression levels were not associated with COVID-19 disease severity. (2) In addition, we observed that HLA-B and HLA-C mRNA expression levels were significantly different between South African Black individuals and South African Indian individuals (p < 0.0001, p < 0.0001). HLA-B mRNA expression levels among symptomatic South African Black individuals were significantly higher than symptomatic South African Indian individuals (p < 0.0001). In addition, the HLA-B mRNA expression levels of symptomatic South African Black individuals were significantly higher than asymptomatic South African Black individuals (p > 0.0001). HLA-C mRNA expression levels among symptomatic South African Black individuals were significantly higher than among symptomatic South African Indian individuals (p = 0.0217). (3) HLA-C expression levels were significantly different between males and females (p = 0.0052). In addition, the HLA-C expression levels of asymptomatic males are higher than asymptomatic females (p = 0.0375). (4) HLA-B expression levels were significantly different between individuals with and without comorbidities (p = 0.0009). In addition, we observed a significant difference between individuals with no comorbidities and non-communicable diseases (p = 0.0034), in particular, hypertension (p = 0.0487). (5) HLA-B expression levels were significantly different between individuals between 26-35 and 56-65 years (p = 0.0380). Our work is expected to strengthen the understanding of the relationship between HLA and COVID-19 by providing insights into HLA-B and C expression levels across ethnic populations in South Africa among COVID-19-symptomatic and asymptomatic individuals. Our results highlight that HLA-B mRNA expression levels contribute to COVID-19 severity as well as variation in ethnicities associated with COVID-19. Further studies are needed to examine the effect of HLA expression levels across various ethnic groups with contributing factors.
Assuntos
COVID-19 , Antígenos HLA-B , Antígenos HLA-C , SARS-CoV-2 , Índice de Gravidade de Doença , Humanos , COVID-19/genética , COVID-19/virologia , COVID-19/etnologia , Masculino , Feminino , África do Sul/epidemiologia , Pessoa de Meia-Idade , Adulto , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Estudos de Coortes , Idoso , RNA Mensageiro/genética , RNA Mensageiro/metabolismoRESUMO
The novel allele HLA-C*12:351Q differs from HLA-C*12:02:02:01 by a single nucleotide deletion in exon 5.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Sequência de Bases , Deleção de Sequência , Análise de Sequência de DNA/métodos , Alinhamento de SequênciaRESUMO
One nucleotide substitution in codon 264 of HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:359.
Assuntos
Antígenos HLA-C , Polimorfismo de Nucleotídeo Único , Humanos , Sequência de Bases , Antígenos HLA-C/genética , Alelos , Substituição de Aminoácidos , Éxons/genética , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade , Doadores de Tecidos , TaiwanRESUMO
HLA-C*06:376N differs from HLA-C*06:02:01:01 by seven nucleotide changes in exon 2, intron 2, and exon 3.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Análise de Sequência de DNA , China , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
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 novel HLA-C*14:159 allele was detected during the routine HLA typing for kidney transplantation.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Sequenciamento de Nucleotídeos em Larga Escala , Teste de HistocompatibilidadeRESUMO
HLA-C*17:01:01:29 differs from the HLA-C*17:01:01:05 allele by one nucleotide substitution in the 3'UTR.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , Regiões 3' não TraduzidasRESUMO
HLA-C*04:01:01:174 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the intron 5.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , ÍntronsRESUMO
HLA-C*01:02:01:70 differs from the HLA-C*01:02:01:01 allele by one nucleotide substitution in the intron 4.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , ÍntronsRESUMO
HLA-C*08:273 differs from HLA-C*08:01:01:01 by one nucleotide in exon 2.