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1.
Front Immunol ; 15: 1357731, 2024.
Article in English | MEDLINE | ID: mdl-38784379

ABSTRACT

Long-term immunity against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) requires the identification of T-cell epitopes affecting host immunogenicity. In this computational study, we explored the CD8+ epitope diversity estimated in 27 of the most common HLA-A and HLA-B alleles, representing most of the United States population. Analysis of 16 SARS-CoV-2 variants [B.1, Alpha (B.1.1.7), five Delta (AY.100, AY.25, AY.3, AY.3.1, AY.44), and nine Omicron (BA.1, BA.1.1, BA.2, BA.4, BA.5, BQ.1, BQ.1.1, XBB.1, XBB.1.5)] in analyzed MHC class I alleles revealed that SARS-CoV-2 CD8+ epitope conservation was estimated at 87.6%-96.5% in spike (S), 92.5%-99.6% in membrane (M), and 94.6%-99% in nucleocapsid (N). As the virus mutated, an increasing proportion of S epitopes experienced reduced predicted binding affinity: 70% of Omicron BQ.1-XBB.1.5 S epitopes experienced decreased predicted binding, as compared with ~3% and ~15% in the earlier strains Delta AY.100-AY.44 and Omicron BA.1-BA.5, respectively. Additionally, we identified several novel candidate HLA alleles that may be more susceptible to severe disease, notably HLA-A*32:01, HLA-A*26:01, and HLA-B*53:01, and relatively protected from disease, such as HLA-A*31:01, HLA-B*40:01, HLA-B*44:03, and HLA-B*57:01. Our findings support the hypothesis that viral genetic variation affecting CD8 T-cell epitope immunogenicity contributes to determining the clinical severity of acute COVID-19. Achieving long-term COVID-19 immunity will require an understanding of the relationship between T cells, SARS-CoV-2 variants, and host MHC class I genetics. This project is one of the first to explore the SARS-CoV-2 CD8+ epitope diversity that putatively impacts much of the United States population.


Subject(s)
COVID-19 , Computational Biology , Epitopes, T-Lymphocyte , SARS-CoV-2 , Humans , Epitopes, T-Lymphocyte/immunology , Epitopes, T-Lymphocyte/genetics , SARS-CoV-2/immunology , SARS-CoV-2/genetics , COVID-19/immunology , COVID-19/virology , United States/epidemiology , Computational Biology/methods , CD8-Positive T-Lymphocytes/immunology , HLA-B Antigens/genetics , HLA-B Antigens/immunology , Alleles , HLA-A Antigens/genetics , HLA-A Antigens/immunology , Severity of Illness Index , Spike Glycoprotein, Coronavirus/immunology , Spike Glycoprotein, Coronavirus/genetics
2.
Asian Pac J Cancer Prev ; 25(5): 1507-1513, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38809622

ABSTRACT

OBJECTIVE: This study seeks to elucidate the association between HLA-A, HLA-B, and HLA-DRB1 alleles and their relative risk contributions to ALL within an Iranian cohort. METHODS: Utilizing a robust case-control design, this research involved 71 ALL patients and 71 age and sex-matched healthy individuals. Genotyping of specified HLA alleles was performed using the advanced PCR-SSP technique. RESULTS: Our findings reveal a marked increase in the prevalence of the HLA-DRB1*04 allele among patients diagnosed with ALL compared to the control group (P<0.027). Conversely, the alleles HLA-A*26 (P=0.025), HLA-A*33 (P=0.020), and HLA-DRB1*03 (P=0.035) were observed at significantly reduced frequencies within the patient population. CONCLUSION: Our findings highlight HLA-DRB1*04 as a potential genetic marker for increased susceptibility to ALL, while HLA-A*26, HLA-A*33, and HLA-DRB1*03 emerge as protective factors.


Subject(s)
Alleles , Genetic Predisposition to Disease , HLA-A Antigens , HLA-B Antigens , HLA-DRB1 Chains , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Humans , Case-Control Studies , HLA-DRB1 Chains/genetics , Female , Male , Iran/epidemiology , HLA-B Antigens/genetics , HLA-A Antigens/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Prognosis , Follow-Up Studies , Adult , Genotype , Adolescent , Child , Young Adult , Child, Preschool , Biomarkers, Tumor/genetics
3.
HLA ; 103(5): e15519, 2024 May.
Article in English | MEDLINE | ID: mdl-38721702

ABSTRACT

HLA-A*01:454 and HLA-A*31:229, two novel HLA-A alleles detected during routine typing by next-generation sequencing.


Subject(s)
Alleles , Exons , HLA-A Antigens , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Humans , HLA-A Antigens/genetics , Sequence Analysis, DNA/methods , HLA-A1 Antigen/genetics , Base Sequence
4.
Neurol Neuroimmunol Neuroinflamm ; 11(3): e200221, 2024 May.
Article in English | MEDLINE | ID: mdl-38579189

ABSTRACT

BACKGROUND AND OBJECTIVES: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a rare autoimmune neurologic disorder, the genetic etiology of which remains poorly understood. Our study aims to investigate the genetic basis of this disease in the Chinese Han population. METHODS: We performed a genome-wide association study and fine-mapping study within the major histocompatibility complex (MHC) region of 413 Chinese patients with anti-NMDAR encephalitis recruited from 6 large tertiary hospitals and 7,127 healthy controls. RESULTS: Our genome-wide association analysis identified a strong association at the IFIH1 locus on chromosome 2q24.2 (rs3747517, p = 1.06 × 10-8, OR = 1.55, 95% CI, 1.34-1.80), outside of the human leukocyte antigen (HLA) region. Furthermore, through a fine-mapping study of the MHC region, we discovered associations for 3 specific HLA class I and II alleles. Notably, HLA-DQB1*05:02 (p = 1.43 × 10-12; OR, 2.10; 95% CI 1.70-2.59) demonstrates the strongest association among classical HLA alleles, closely followed by HLA-A*11:01 (p = 4.36 × 10-7; OR, 1.52; 95% CI 1.29-1.79) and HLA-A*02:07 (p = 1.28 × 10-8; OR, 1.87; 95% CI 1.50-2.31). In addition, we uncovered 2 main HLA amino acid variation associated with anti-NMDAR encephalitis including HLA-DQß1-126H (p = 1.43 × 10-12; OR, 2.10; 95% CI 1.70-2.59), exhibiting a predisposing effect, and HLA-B-97R (p = 3.40 × 10-8; OR, 0.63; 95% CI 0.53-0.74), conferring a protective effect. Computational docking analysis suggested a close relationship between the NR1 subunit of NMDAR and DQB1*05:02. DISCUSSION: Our findings indicate that genetic variation in IFIH1, involved in the type I interferon signaling pathway and innate immunity, along with variations in the HLA class I and class II genes, has substantial implications for the susceptibility to anti-NMDAR encephalitis in the Chinese Han population.


Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , HLA-DQ beta-Chains , Interferon-Induced Helicase, IFIH1 , Humans , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/genetics , Genome-Wide Association Study , Histocompatibility Antigens Class I/genetics , Histocompatibility Antigens Class II/genetics , HLA-A Antigens/genetics , HLA-DQ beta-Chains/genetics , Interferon-Induced Helicase, IFIH1/genetics
5.
HLA ; 103(4): e15486, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38625040

ABSTRACT

A single nucleotide substitution in exon 5 of HLA-A*30:01:01:01 results in the novel HLA-A*30:01:22 allele.


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Alleles , Saudi Arabia , Exons/genetics , HLA-A Antigens/genetics
6.
HLA ; 103(4): e15406, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38568116

ABSTRACT

The novel allele HLA-A*36:14 differs from HLA-A*36:01:01:01 by one non-synonymous nucleotide substitution in exon 4.


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Alleles , Exons/genetics , Sequence Analysis, DNA , HLA-A Antigens/genetics
7.
HLA ; 103(4): e15408, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38575359

ABSTRACT

The novel allele HLA-A*30:01:23 differs from HLA-A*30:01:01:01 by one synonymous nucleotide substitution in exon 2.


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Alleles , Exons/genetics , Sequence Analysis, DNA , HLA-A Antigens/genetics
8.
Rev Alerg Mex ; 71(1): 66, 2024 Feb 01.
Article in Spanish | MEDLINE | ID: mdl-38683083

ABSTRACT

OBJECTIVE: This study aimed to establish the association between HLA-A, B, DR genotypes and gastrointestinal variables in patients with SpA without inflammatory bowel disease (IBD). METHODS: Retrospective study of 91 patients with SpA and 401 healthy controls, with typing by Illumina Sequencing/PacBio and LIFECODES HLA-PCR/SSO multiplex sequencing technology. The presence of gastrointestinal symptoms was evaluated by administering a survey, and those who presented 2 or more symptoms were taken for clinical evaluation by rheumatology and gastroenterology, colonoscopy and histopathological study. (Ethics committee approval). RESULTS: The 59,3% of the patients were men, with a mean age of 43,9±11.4 years; 80,2% were classified as ankylosing spondylitis. 14, 28 and 19 genotypes for the HLA-A*, HLA-B* and HLA-DR* loci were identified in both groups, of which a relationship with gastrointestinal symptoms was identified: A*26, A*29 and B*27 were associated to abdominal pain, DRB1*11 and DRB1*16 with abdominal distention, A*30, B*38, DRB1*13 and DRB1*14 with weight loss, B*40 with diarrhea >4 weeks, and presence of mucus in the stools with A*02 and DRB1*11 (p<0.05). Furthermore, the presence of B*15 had a statistical relationship with intolerance to some food, highlighting the B*27 genotype in relation to grains and dairy products, A*23 with grains, vegetables and meats, and B*49 with vegetables and dairy (p<0.05). Regarding the endoscopic variables, macroscopic changes were found in the ileum mucosa related to A*02, B*48, DRB1*14 and the relationship between B*27 and ulcers at this level should be highlighted. Macroscopic changes in the sigmoid colon with B*48 and the rectum with A*30. In microscopic changes, inflammatory alterations of the ileum are mentioned with genotypes DRB1*07, DRB1*13 and DRB1*14, a genotype that is related to changes in the ileum both endoscopically and histologically (p<0.05). CONCLUSIONS: These findings indicate a potential genetic predisposition related to HLA genotypes that may increase the likelihood of food intolerance, gastrointestinal symptoms, and even visible and microscopic changes, specifically in the ileal tissue. The study highlights the presence of B*27 and other noteworthy HLA class I and class II genes (such as DRB1*14) in the diverse Colombian population.


OBJETIVO: Establecer la asociación entre genotipos HLA-A, B, DR y variables gastrointestinales en pacientes con EspA, sin enfermedad inflamatoria intestinal (EII). MÉTODOS: Estudio retrospectivo de 91 pacientes con EspA y 401 controles sanos, con tipificación por tecnología de secuenciación Illumina Sequencing/PacBio, y LIFECODES HLA-PCR/SSO multiplex. Se evaluó la presencia de síntomas gastrointestinales por aplicación de una encuesta, y, aquellos que presentaran dos o más síntomas, fueron llevados a valoración clínica por reumatología y gastroenterología, colonoscopia y estudio histopatológico. (Aprobación del Comité de Ética, HMC, 2022 - 2020). RESULTADOS: El 59,3% de los pacientes fueron hombres, con edad media de 43,9 ± 11,4 años. El 80,2% se clasificó como espondilitis anquilosante. Se identificaron en ambos grupos 14, 28 y 19 genotipos para los loci HLA-A*, HLA-B* y HLA-DR*, de los cuales se identificó relación con síntomas gastrointestinales: A*26, A*29 y B*27, con dolor abdominal; DRB1*11 y DRB1*16, con distensión abdominal; A*30, B*38, DRB1*13 y DRB1*14, con pérdida de peso; B*40, con diarrea >4 semanas y presencia de moco en las deposiciones con A*2 y DRB1*11 (p<0,05). Además, la presencia de B*15, tuvo relación estadística con intolerancia a algún tipo de alimento, a resaltar el genotipo B*27, en relación con granos y lácteos; A*23 con granos, verduras y carnes; y el B*49, con verduras y lácteos (p<0,05). Frente a las variables endoscópicas, se encontraron cambios macroscópicos en la mucosa de íleon relacionados con A*02, B*48, DRB1*14 y, a destacar, la relación B*27 con úlceras a este nivel. Cambios macroscópicos en colon sigmoides con B*48 y en recto con A*30. En cambios microscópicos, se mencionan alteraciones inflamatorias de íleon con genotipos DRB1*07, DRB1*13 y DRB1*14, genotipos que se relaciona a cambios en íleon tanto endoscópica e histológicamente (p<0,05). CONCLUSIONES: Estos resultados sugieren una posible susceptibilidad genética asociada al HLA, con genotipos que pueden predisponer a intolerancia alimentaria, síntomas gastrointestinales, e incluso, a cambios macroscópicos e histológicos, particularmente en tejido de íleon, entre los cuales está presente el B*27, pero resaltan otros interesantes en HLA clase I, como clase II (DRB1*14), en una población de alto mestizaje como la colombiana.


Subject(s)
Gastrointestinal Diseases , Genotype , Spondylarthritis , Humans , Male , Female , Adult , Retrospective Studies , Gastrointestinal Diseases/genetics , Gastrointestinal Diseases/etiology , Spondylarthritis/genetics , Spondylarthritis/complications , Middle Aged , Inflammatory Bowel Diseases/genetics , Inflammatory Bowel Diseases/complications , HLA Antigens/genetics , HLA-A Antigens/genetics , HLA-B Antigens/genetics
11.
HLA ; 103(3): e15442, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38488733

ABSTRACT

HLA-A*11:463 has one nucleotide change from HLA-A*11:01:01:01 at nucleotide 508 changing Lysine (146) to Glutamine.


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Male , Base Sequence , Alleles , HLA-A Antigens/genetics , China , Fathers , Sequence Analysis, DNA
12.
Virus Res ; 343: 199355, 2024 05.
Article in English | MEDLINE | ID: mdl-38490580

ABSTRACT

Influenza viruses are notorious for their capacity to evade host immunity. Not only can they evade recognition by virus-neutralizing antibodies, there is also evidence that they accumulate mutations in epitopes recognized by virus-specific CD8+T cells. In addition, we have shown previously that human influenza A viruses were less well recognized than avian influenza viruses by CD8+T cells directed to the highly conserved, HLA-A*02:01 restricted M158-66 epitope located in the Matrix 1 (M1) protein. Amino acid differences at residues outside the epitope were responsible for the differential recognition, and it was hypothesized that this reflected immune adaptation of human influenza viruses to selective pressure exerted by M158-66-specific CD8+T cells in the human population. In the present study, we tested this hypothesis and investigated if selective pressure exerted by M158-66 epitope-specific CD8+T cells could drive mutations at the extra-epitopic residues in vitro. To this end, isogenic influenza A viruses with the M1 gene of a human or an avian influenza virus were serially passaged in human lung epithelial A549 cells that transgenically express the HLA-A*02:01 molecule or not, in the presence or absence of M158-66 epitope-specific CD8+T cells. Especially in the virus with the M1 gene of an avian influenza virus, variants emerged with mutations at the extra-epitopic residues associated with reduced recognition by M158-66-specific T cells as detected by Next Generation Sequencing. Although the emergence of these variants was observed in the absence of selective pressure exerted by M158-66 epitope-specific CD8+T cells, their proportion was much larger in the presence of this selective pressure.


Subject(s)
Fluprednisolone/analogs & derivatives , Influenza A virus , Influenza in Birds , Animals , Humans , Amino Acid Substitution , Epitopes, T-Lymphocyte , CD8-Positive T-Lymphocytes , Influenza A virus/genetics , HLA-A Antigens/genetics , HLA-A Antigens/metabolism
13.
J Reprod Immunol ; 163: 104225, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38518419

ABSTRACT

The maternal-fetal interaction has been hypothesized to involve the human leucocyte antigen (HLA). It has been suggested that excessive HLA antigen sharing between spouses is a mechanism causing maternal hyporesponsiveness to paternal antigens encountered during pregnancy and thus leading to a miscarriage. Participants in this retrospective study are RIF and RPL couples who visited Gunasheela Surgical and Maternity Hospital, Bangalore, India from November 2019 to September 2022. A total of 40 couples with RIF and 195 couples with RPL are included in the study. We observed that the DQB1*02:01:01 allele is associated with an increase in risk of both RIF and RPL, while the C*12:02:01 allele increases risk of only RPL. On the contrary, DQB1*02:02:01 and DQB1*06:03 alleles appear to be protective against both RPL and RIF. In addition, the C*07:02:01 allele was observed to be protective against RPL. In conclusion, C*12:02:01 and DQB1*02:01:01 could play a major role in RPL which is consistent with other studies, while DQB1*02:01:01 is the risk allele in our RIF group. The protective alleles C*07:02:01 in the RPL group, DQB1*02:02:01, and DQB1*06:03 in both RIF and RPL, were discovered for the first time. Allele frequencies will vary in population-based studies depending on the ethnicities of the cohort. Meta-analysis and antibody testing will provide additional insights on whether and how this data can be adopted into clinical practices.


Subject(s)
Abortion, Habitual , Gene Frequency , HLA-DQ beta-Chains , HLA-DRB1 Chains , Humans , Female , Retrospective Studies , Abortion, Habitual/genetics , Abortion, Habitual/immunology , India , Pregnancy , Male , Adult , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Genetic Predisposition to Disease , Alleles , HLA-C Antigens/genetics , HLA-C Antigens/immunology , HLA-B Antigens/genetics , HLA-A Antigens/genetics , Embryo Implantation/immunology , Embryo Implantation/genetics
14.
Zhonghua Yi Xue Za Zhi ; 104(11): 834-842, 2024 Mar 19.
Article in Chinese | MEDLINE | ID: mdl-38462359

ABSTRACT

Objective: To establish prediction models for human leukocyte antigen (HLA) haplotypes and HLA genotypes, and verify the prediction accuracy. Methods: The prediction models were established based on the characteristic of HLA haplotype inheritance and linkage disequilibrium (LD), as well as the invention patents and software copyrights obtained. The models include algorithm and reference databases such as HLA A-C-B-DRB1-DQB1 high-resolution haplotypes database, B-C and DRB1-DQB1 LD database, G group alleles table, and NMDP Code alleles table. The prediction algorithm involves data processing, comparison with reference data, filtering results, probability calculation and ranking, confidence degree estimation, and output of prediction results. The accuracy of the predictions was verified by comparing them with the correct results, and the relationship between prediction accuracy and the probability distribution and confidence degree of the predicted results was analyzed. Results: The HLA haplotypes and genotypes prediction models were established. The prediction algorithm included the prediction of A-C-B-DRB1-DQB1 haplotypes according to HLA-A, B, DRB1, C, DQB1 genotypes, the prediction of C and DQB1 high-resolution results according to A, B and DRB1 high-resolution results, and the prediction of A, B, DRB1, C and DQB1 high resolution results according to the A, B and DRB1 intermediate or low resolution results. Validation results of "Predicting A-C-B-DRB1-DQB1 haplotypes basing on HLA-A, B, DRB1, C, DQB1 genotypes" model: for 787 data, the accuracy was 94.0% (740/787) with 740 correct predictions, 34 incorrect predictions, and 13 instances with no predicted results. For 847 data, the accuracy was 100% (847/847). The 2 411 and 2 594 haplotype combinations predicted from 787 and 847 data were grouped according to confidence degree, the accuracy was 100% (48/48, 114/114) for a confidence degree of 1, 96.2% (303/315) and 97.8% (409/418) for a confidence degree of 2 respectively. Validation results of "Predicting A, B, DRB1 and C, DQB1 high-resolution genotypes basing on HLA-A, B, DRB1 high, intermediate, or low resolution genotypes" model: when predicting C and DQB1 high resolution genotypes basing on A, B, and DRB1 high resolution genotypes, 89.3% (1 459/1 634) of the predictions were correct. The accuracy for the top 2 predicted probability (GPP) ranking was 79.2% (1 156/1 459), and for the top 10, it was 95.0% (1 386/1 459). Furthermore, when GPP≥90% and GPP 50%-90%, the prediction accuracy was 81.3% (209/257) and 72.8% (447/614) respectively. The accuracy of predicting C and DQB1 high resolution genotypes basing on the results of A, B, and DRB1 high resolution genotypes from the China Marrow Donor Program was 87.0% (20/23). The accuracy of predicting A, B, DRB1, C, and DQB1 high resolution genotypes basing on the results of A, B, and DRB1 intermediate or low-resolution genotypes was 70.0% (7/10) and 52.5% (21/40) respectively. When predicting whether the patient is likely to have a HLA 10/10 matched donor, the accuracy of the top 2 GPP combinations with a proportion of ≥50% was 85.7% (6/7). Conclusions: When using A, B, DRB1, C, DQB1 genotypes to predict A-C-B-DRB1-DQB1 haplotype combinations, the results with a confidence degree of 1 and 2 are reliable. When predicting C and DQB1 genotypes according to A, B and DRB1 genotypes, the top 10 results ranked by GPP are reliable, and the top 2 results with GPP≥50% are more reliable.


Subject(s)
HLA-B Antigens , HLA-C Antigens , Humans , Haplotypes , HLA-B Antigens/genetics , HLA-C Antigens/genetics , Gene Frequency , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Histocompatibility Antigens Class I/genetics , Genotype , HLA-A Antigens/genetics , Alleles
15.
Nihon Yakurigaku Zasshi ; 159(2): 90-95, 2024.
Article in Japanese | MEDLINE | ID: mdl-38432925

ABSTRACT

Pharmacogenetic testing benefits patients by predicting drug efficacy and risk of adverse drug reactions (ADRs). Pharmacogenetic biomarkers useful in clinical practice include drug-metabolizing enzyme and drug transporter genes and human leukocyte antigen (HLA) genes. HLA genes, which are important molecules involved in human immunity, have long been analyzed for associations with ADRs, such as skin rash, drug-induced liver injury, and agranulocytosis. HLA is composed of many genes, each of which has dozens of different types (alleles), and many HLA alleles associated with ADRs have been reported. The odds ratios in the association of HLA alleles range from approximately 5 to several thousand, indicating a very large impact on the risk of ADRs. Thus, HLA genetic testing prior to initiation of drug therapy is expected to make a significant contribution to avoiding ADRs, but to demonstrate the clinical utility, it is necessary to prospectively show the effects of medical interventions based on the test results. We conducted the GENCAT study, a prospective, multicenter, single-arm clinical trial to investigate the impact of a therapeutic intervention based on the HLA-A*31:01 test on the incidence of carbamazepine-induced skin rash. HLA-A*31:01-positive patients were treated with an alternative drug such as valproic acid, and the study showed an approximately 60% reduction in the incidence of carbamazepine-induced skin rash. It is expected that the genetic test, which has demonstrated clinical utility, will lead to the establishment of safer and more appropriate stratified medicine by reflecting the information in clinical practice guidelines.


Subject(s)
Drug-Related Side Effects and Adverse Reactions , Exanthema , Humans , Pharmacogenomic Testing , Prospective Studies , Drug-Related Side Effects and Adverse Reactions/genetics , Drug-Related Side Effects and Adverse Reactions/prevention & control , Carbamazepine/adverse effects , HLA-A Antigens/genetics
16.
HLA ; 103(3): e15426, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38433707

ABSTRACT

HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.


Subject(s)
Bone Marrow , HLA-A Antigens , Humans , Alleles , Greece , 5' Untranslated Regions , HLA-A Antigens/genetics
17.
Ann Neurol ; 95(5): 901-906, 2024 May.
Article in English | MEDLINE | ID: mdl-38400794

ABSTRACT

We determined the genetic association between specific human leucocyte antigen (HLA) loci and autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy. Our results showed that autoimmune GFAP astrocytopathy was associated with HLA-A*3303 (odds ratio [OR] = 2.02, 95% confidence interval [CI] = 1.32-3.06, p = 0.00072, padj. = 0.046) and HLA-DBP1*0501 (OR = 0.51, 95% CI = 0.36-0.71, p = 0.000048, padj. = 0.0062). Moreover, HLA-A*3303 carriers with the disease had a longer hospital stay (p = 0.0005) than non-carriers. This study for the first time provides evidence for a role of genetic factor in the development of autoimmune GFAP astrocytopathy. ANN NEUROL 2024;95:901-906.


Subject(s)
Astrocytes , Glial Fibrillary Acidic Protein , HLA-A Antigens , HLA-DP beta-Chains , Humans , Glial Fibrillary Acidic Protein/genetics , Male , Female , Middle Aged , HLA-DP beta-Chains/genetics , Adult , HLA-A Antigens/genetics , Astrocytes/metabolism , Astrocytes/pathology , Aged
18.
HLA ; 103(2): e15386, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38342852

ABSTRACT

Identification of novel HLA-A*23:128 allele generated by interlocus gene conversion in Brazilian bone marrow donor.


Subject(s)
Bone Marrow , Gene Conversion , Humans , Brazil , Alleles , Tissue Donors , HLA-A Antigens/genetics
19.
HLA ; 103(2): e15382, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38358088

ABSTRACT

HLA-A*11:01:01:68 differs from HLA-A*11:01:01:01 by one nucleotide change in intron 3 at position 1474 (G > A).


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Alleles , Introns/genetics , HLA-A Antigens/genetics , High-Throughput Nucleotide Sequencing
20.
HLA ; 103(2): e15362, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38299758

ABSTRACT

HLA-A*32:177 differs from HLA-A*32:01:01:01 by one nucleotide substitution in codon -16 in exon 1.


Subject(s)
HLA-A Antigens , Nucleotides , Humans , Alleles , Exons/genetics , Sequence Analysis, DNA , HLA-A Antigens/genetics
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