RESUMEN
HLA-DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA-DQB1*05:03:01:01.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuencia de Bases , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Cadenas beta de HLA-DQ/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodosRESUMEN
Identification of seven new HLA alleles by next-generation sequencing.
Asunto(s)
Alelos , Antígenos HLA , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Antígenos HLA/genética , Prueba de Histocompatibilidad/métodos , Exones , Análisis de Secuencia de ADN/métodos , Secuencia de BasesRESUMEN
The novel allele, HLA-DQB1*03:517, differs by a single nucleotide substitution in exon 3 to HLA-DQB1*03:02:01:02.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Prueba de Histocompatibilidad , Humanos , Cadenas beta de HLA-DQ/genética , Arabia Saudita , Secuencia de Bases , Análisis de Secuencia de ADN , Polimorfismo de Nucleótido Simple , Alineación de Secuencia , CodónRESUMEN
Bullous pemphigoid (BP), although a rare disease, is the most frequent subepidermal autoimmune disorder. Treatment with gliptins, used for type 2 diabetes, was reported as associated with BP onset. To identify HLA alleles that may reflect a higher susceptibility to BP in the Italian population, we analysed 30 patients affected by idiopathic bullous pemphigoid (IBP) and 86 gliptin-associated BP (GABP) patients. A significant association between HLA-DQB1*03:01 allele and IBP and GABP patients was found. Of note, both IBP and GABP were significantly associated with one of the following haplotypes: DRB1*11:01, DRB3*02:02, DQA1*05:05, DQB1*03:01 or DRB1*11:04, DRB3*02:02, DQA1*05:05 and DQB1*03:01. These data identify, for the first time, potential markers of susceptibility to BP in the Italian population, especially when associated with gliptin intake.
Asunto(s)
Alelos , Predisposición Genética a la Enfermedad , Haplotipos , Penfigoide Ampolloso , Humanos , Penfigoide Ampolloso/genética , Penfigoide Ampolloso/inducido químicamente , Italia , Femenino , Masculino , Anciano , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Cadenas beta de HLA-DQ/genética , Persona de Mediana Edad , Frecuencia de los Genes , Anciano de 80 o más AñosRESUMEN
Two novel HLA-DQB1 alleles, HLA-DQB1*05:01:50 and HLA-DQB1*06:486, characterised in bone marrow volunteers.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Cadenas beta de HLA-DQ/genética , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Codón , Médula ÓseaRESUMEN
HLA-DQB1*06:02:61 differs from HLA-DQB1*06:02:01:01 by one nucleotide substitution in exon 4-5512 G>A.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Humanos , Cadenas beta de HLA-DQ/genética , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Polimorfismo de Nucleótido SimpleRESUMEN
Two novel HLA class II, HLA-DRB1*13:357 and HLA-DQB1*03:525, characterised in Russian individuals.
Asunto(s)
Alelos , Cadenas beta de HLA-DQ , Cadenas HLA-DRB1 , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Cadenas HLA-DRB1/genética , Cadenas beta de HLA-DQ/genética , Exones , Federación de Rusia , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Análisis de Secuencia de ADN/métodosRESUMEN
OBJECTIVES: Nasal polyposis (NP) is a common and recurrent condition of the sinonasal cavity which has significant impact on patients' quality of life. NP pathophysiology involves a complex interplay of genetic, environmental, and immunological factors. Several studies have explored the association between human leukocyte antigen (HLA) class II alleles and NP, but the results have been conflicting. The aim of this meta-analysis is to investigate the association between HLA class II alleles, specifically HLA-DQA1, HLA-DQB1, and HLA-DRB1and NP risk. METHODS: A systematic review was conducted using electronic databases, including PubMed, Google Scholar, and Cochrane Library, to identify studies investigating the association between HLA class II alleles and NP. Eligible studies were identified by specific inclusion and exclusion criteria. The odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association between HLA class II alleles and NP risk. A random-effects model was used to calculate the pooled OR and corresponding 95% CI, and a study required a heterogeneity assessment value I2 < 25% to be considered for analysis. STUDY DESIGN: Meta-analysis. RESULTS: A total of four studies were included in this meta-analysis, involving a total of 258 NP alleles and 802 control alleles. The analysis indicated that DQA1*0201 (OR = 3.08, 95% CI [1.70, 5.59]) and DRB1*7 (OR = 2.04, 95% CI [1.14, 3.66]) were significantly associated with increased risk of NP. The analysis of the NP risk alleles DQA1*0201 and DRB1*7 had an I2 < 0% representing low heterogeneity. Sensitivity analysis with LFK indices showed minor asymmetry in either allele. CONCLUSIONS: This meta-analysis provides evidence that the HLA-DQA1*0201 and HLA-DRB1*7 alleles are risk factors for the development of NP. These findings could contribute to a better understanding of the genetic predisposition of NP and may have implications for the development of novel approaches for the prevention and treatment of this condition.
RESUMEN
The novel HLA-DQB1*06:02:62 allele, first described in an individual from Brazil.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Humanos , Cadenas beta de HLA-DQ/genética , Análisis de Secuencia de ADN/métodos , Prueba de Histocompatibilidad/métodos , Brasil , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Codón , Secuencia de BasesRESUMEN
Full-length sequence of HLA-DQB1*06:18:01 covers the 5'-untranslated region (UTR), all introns and exons, and the 3' UTR.
Asunto(s)
Regiones no Traducidas 3' , Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Intrones , Humanos , Cadenas beta de HLA-DQ/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Regiones no Traducidas 5' , Secuencia de Bases , Análisis de Secuencia de ADN/métodosRESUMEN
One nucleotide substitution in codon 130 of HLA-DQB1*03:03:02:01 results in a novel allele HLA-DQB1*03:96.
Asunto(s)
Alelos , Codón , Exones , Cadenas beta de HLA-DQ , Prueba de Histocompatibilidad , Humanos , Cadenas beta de HLA-DQ/genética , Taiwán , Secuencia de Bases , Pueblo Asiatico/genética , Análisis de Secuencia de ADN/métodos , Polimorfismo de Nucleótido SimpleRESUMEN
The novel HLA-DQB1*03:01:61 allele, first described in a potential bone marrow donor from Brazil.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Prueba de Histocompatibilidad , Humanos , Secuencia de Bases , Brasil , Codón , Cadenas beta de HLA-DQ/genética , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
Background and Objectives: Chlamydia trachomatis (C. trachomatis) represents one of the most prevalent bacterial sexually transmitted diseases. This study aims to explore the relationship between HLA alleles/genotypes/haplotypes and C. trachomatis infection to better understand high-risk individuals and potential complications. Materials and Methods: This prospective study recruited participants from Transylvania, Romania. Patients with positive NAAT tests for C. trachomatis from cervical/urethral secretion or urine were compared with controls regarding HLA-DR and -DQ alleles. DNA extraction for HLA typing was performed using venous blood samples. Results: Our analysis revealed that the presence of the DRB1*13 allele significantly heightened the likelihood of C. trachomatis infection (p = 0.017). Additionally, we observed that individuals carrying the DRB1*01/DRB1*13 and DQB1*03/DQB1*06 genotype had increased odds of C. trachomatis infection. Upon adjustment, the association between the DRB1*01/DRB1*13 genotype and C. trachomatis remained statistically significant. Conclusions: Our findings underscore the importance of specific HLA alleles and genotypes in influencing susceptibility to C. trachomatis infection. These results highlight the intricate relationship between host genetics and disease susceptibility, offering valuable insights for targeted prevention efforts and personalized healthcare strategies.
Asunto(s)
Infecciones por Chlamydia , Chlamydia trachomatis , Polimorfismo Genético , Enfermedades de Transmisión Sexual , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Alelos , Infecciones por Chlamydia/genética , Predisposición Genética a la Enfermedad , Genotipo , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Estudios Prospectivos , Rumanía , Enfermedades de Transmisión Sexual/genéticaRESUMEN
Two different single nucleotide substitutions in intron 2 give rise to novel HLA-DQB1*03:02:01 alleles.
Asunto(s)
Alelos , Cadenas beta de HLA-DQ , Intrones , Humanos , Prueba de Histocompatibilidad , Cadenas beta de HLA-DQ/genética , Polimorfismo de Nucleótido SimpleRESUMEN
HLA-DQB1*06:466 differs from HLA-DQB1*06:01:01:01 by a single nucleotide substitution at position 571GâA.
Asunto(s)
Alelos , Pueblo Asiatico , Donantes de Sangre , Exones , Sangre Fetal , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Cadenas beta de HLA-DQ/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Pueblo Asiatico/genética , Prueba de Histocompatibilidad/métodos , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Pueblos del Este de AsiaRESUMEN
HLA-DQB1*02:01:01:21Q differs from HLA-DQB1*02:01:01:01 by one nucleotide substitution in the splice site in the beginning of intron 3.
Asunto(s)
Secuencia de Bases , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , IntronesRESUMEN
Autoimmune thyroid diseases (AITD), particularly Hashimoto's thyroiditis (HT) and Basedow-Graves disease (BGD) are diseases of global public health concern, characterized by autoimmune attacks on the thyroid gland, leading to hypothyroidism in HT and hyperthyroidism in BGD. We conducted a study between 2019 and 2021 in northwestern Transylvania (Romania) on patients with HT and with BGD compared to the control group. The aim of the study was to investigate the correlations of HLA class II alleles with AITD by identifying potential genetic susceptibility factors such as HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with HT and BGD. Various molecular biology methods, including SSP-PCR low-resolution and PCR-SSO were employed to analyze DNA samples from patients and control subjects. Our study revealed the influence of the HLA-DRB1*03/*16 genotype as a genetic susceptibility factor for HT, a similar influence regarding BGD being observed for the HLA-DRB1*03 allele group, DRB1*03/*16 genotype, and the DRB1*03/DQB1*06 haplotype. The only protective factor detected in our study was the HLA-DRB1*13 allele group, for both HT and BGD. By elucidating any specific allele or genotype associations that might contribute to the development of AITD, our study can contribute to the prevention and early detection of these diseases.
RESUMEN
Three nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-DQB1*03:01:01:54, -DQB1*03:01:01:56, -DQB1*03:01:01:58.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , IntronesRESUMEN
We identified two novel HLA alleles by NGS, HLA-B*51:395 and HLA-DQB1*06:478.
Asunto(s)
Antígenos HLA-B , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , Antígenos HLA-B/genéticaRESUMEN
HLA-DQB1*03:512 differs from DQB1*03:02:01 by one nucleotide substitution in codon 89 in exon 2.