Journal articles: 'HLA-DQB1*06'

1

Lorenzoni, Paulo José, Lineu Cesar Werneck, Ana Christina de Souza Crippa, Alessandra Zanatta, Cláudia S. Kamoi Kay, Carlos Eduardo S. Silvado, and Rosana Herminia Scola. "Is there a relationship between narcolepsy, multiple sclerosis and HLA-DQB1*06:02?" Arquivos de Neuro-Psiquiatria 75, no. 6 (June 2017): 345–48. http://dx.doi.org/10.1590/0004-282x20170063.

Full text

Abstract:

ABSTRACT We studied multiple sclerosis (MS) patients with the HLA-DQB1*06:02 allele and compared them with MS patients who did not carry the HLA-DQB1*06:02 allele. We analyzed clinical and neurophysiological criteria for narcolepsy in six MS patients with HLA-DQB1*06:02, compared with 12 MS patients who were HLA-DQB1*06:02 non-carriers. Only two patients with HLA-DQB1*06:02 allele scored higher than 10 on the Epworth Sleepiness Scale. Polysomnography recording parameters and the multiple sleep latency test showed an absence of narcolepsy in the study group. Our study suggested no significant correlation between narcolepsy, MS and HLA-DQB1*06:02. The HLA-DQB1*06:02 allele alone was not sufficient to cause MS patients to develop narcolepsy.

APA, Harvard, Vancouver, ISO, and other styles

2

Sophia Hsuan-Jung, Chen, Miyadera Hiroko, and Tokunaga Katsushi. "Analysis of HLA-DQ protein and peptide interaction in association to auto-immune mechanism of narcolepsy. (P5069)." Journal of Immunology 190, no. 1_Supplement (May 1, 2013): 111.17. http://dx.doi.org/10.4049/jimmunol.190.supp.111.17.

Full text

Abstract:

Abstract Human narcolepsy is a sleep disorder characterized by excessive daytime sleepiness (EDS), cataplexy, and abnormalities of rapid eye movement (REM). Strong HLA class II association was determined where the narcoleptic individuals of diverse ethnic backgrounds share a specific HLA class II haplotype, DQA1*01:02-DQB1*06:02. It has been also reported that hypocretin in the CSF of narcoleptic patients are significantly decreased and that hypocretin producing cells are disrupted in patients’ brain. We hypothesized that hypocretin or other proteins specifically expressed in hypocretin producing cells in the hypothalamus, are presented by HLA-DQA1*01:02-DQB1*06:02, and induce activation of self-reactive T cells. To analyze the peptide-binding reperitore of HLA-DQA1*01:02-DQB1*06:02, we transduced murine fibroblast cells with HLA-DQA1*01:02-DQB1*06:02 (suscceptible), DQA1*01:03-DQB1*06:01 (resistant), DQA1*01:03-DQB1*06:03 (resistant), and DQA1*01:02-DQB1*06:04 (neutral) alleles by retrovirus-vectors and confirmed stable DQ proteins expression. Using these cell lysates we analyzed binding affinity of synthetic peptides designed for hypocretin-A, -B, and other proteins expressed in hypocretin producing cells.

APA, Harvard, Vancouver, ISO, and other styles

3

Bubnova, L. N., E. V. Kuzmich, I. E. Pavlova, E. V. Belyaeva, and M. A. Terentyeva. "Comparative analysis of immunogenetic characteristics of potential hematopoietic stem cell donors from the registries of two Russian megapolises." Medical Immunology (Russia) 24, no. 5 (October 31, 2022): 1047–56. http://dx.doi.org/10.15789/1563-0625-cao-2539.

Full text

Abstract:

Efficacy of search for the unrelated compatible transplant donors depends on a number of factors. Of most importance are the standards of primary HLA typing, and the immunogenetic diversity of the donor pool. Timely donor selection guarantees the optimal timing for stem cell transplantation. This factor exerts positive influence upon the transplantation outcomes. In 2019, The Bone Marrow Donors Registry at the Russian Research Institute of Haematology and Transfusiology has implemented HLA-typing for HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1 genes as a standard for primary immunogenetic examination, in order to reduce the donor search period. The aim of our study was to evaluate the HLA typing results for potential stem cell donors at our Registry as compared with immunogenetic profile of donors at the Registries arranged in two Russian megapolises. All currently known groups of HLA-C, HLA-DRB1, HLA-DQB1 gene alleles, 19 of 21 open groups of HLA-A gene alleles, 34 of 36 known groups of HLA-B gene alleles were screened in the donors from our Registry. The most common HLA alleles groups were as follows: A*02 (0.2957), A*03 (0.1432), A*01 (0.1155), A*24 (0.1128); B*07 (0.1282), B*35 (0.1084), B*44 (0.0921), B*18 (0.0745); C*07 (0.2738), C*04 (0.1361), C*12 (0.1202), C*03 (0.1134), C*06 (0.1127); DRB1*15 (0.1445), DRB1*07 (0.1420), DRB1*13 (0.1271), DRB1*01 (0.1269), DRB1*11 (0.1216); DQB1*03 (0.3517), DQB1*06 (0.2269). A total of 1702 HLA-A*-B*-C*-DRB1*-DQB1*-haplotypes were revealed in our donor pool. The frequency of nine HLA-haplotypes exceeded 0.01: A*01-B*08-C*07-DRB1*03-DQB1*02 (0.0366), A*03-B*07-C*07-DRB1*15-DQB1*06 (0.0269), A*03-B*35-C*04-DRB1*01-DQB1*05 (0.0238), A*02-B*13-C*06-DRB1*07-DQB1*02 (0.0204), A*02-B*07-C*07-DRB1*15-DQB1*06 (0.0184), A*25-B*18-C*12-DRB1*15-DQB1*06 (0.0127), A*02-B*18-C*07-DRB1*11-DQB1*03 (0.0126), A*02-B*15-C*03-DRB1*04-DQB1*03 (0.0123), A*02-B*41-C*17-DRB1*13-DQB1*03 (0.0109). We carried out a comparative analysis of the HLA-haplotypes distribution for the donors of three Russian registers: Russian Research Institute of Haematology and Transfusiology (St. Petersburg); First St. Petersburg State I. Pavlov Medical University (St. Petersburg); National Medical Research Center for Hematology (Moscow). The six most common HLA-haplotypes among the donors from three Russian registers had the same rank positions and frequencies. The differences of some less common HLA-haplotypes distribution were determined. The results of our study indicate the immunogenetic diversity of the donor pool the Registry of Russian Research Institute of Haematology and Transfusiology. This fact, along with usage of international standards for primary immunogenetic examination is a prerequisite for effective donor search for the patients requiring stem cell transplantation.

APA, Harvard, Vancouver, ISO, and other styles

4

Loginova, M. A., S. S. Kutyavina, D. N. Smirnova, V. V. Cheranev, and I. V. Paramonov. "FEATURES OF DISTRIBUTION HLA-ALLELES AND HAPLOTYPES IN KALMYKS." Russian Clinical Laboratory Diagnostics 64, no. 4 (October 7, 2019): 243–49. http://dx.doi.org/10.18821/0869-2084-2019-64-4-243-249.

Full text

Abstract:

Conducted high-resolution HLA-typing loci HLA-A, -B, -C, -DRB1 and -DQB1 by massively parallel sequencing of 150 potential donors of hematopoietic stem cells from the Republic of Kalmykia. In the studied population, four new alleles identified that not previously registered by the International Committee on the Nomenclature of Factors of the HLA-system of WHO. During the HLA-typing identified: 29 alleles at the HLA-A locus, 44 - at the HLA-B locus, 26 - at the HLA-C locus, 15 - at the DQB1 locus, 37 - at the HLA-DRB1 locus. The following alleles have a frequency of more than 10%: HLA-A*02:01 (11,7%), HLA-A*01:01 (11%), HLA-B*51:01 (10,3%), HLA-B*58:01 (10,3%), HLA-C*06:02 (17,7%), HLA-C*03:04 (10,3%), HLA-C*03:02 (10%), HLA-DQB1*03:01 (26,7%), HLA-DQB1*02:02 (10%), HLA-DRB1*07:01 (11,7%). The most common HLA-A-B-C-DQB1-DRB1 haplotype is A*02:05-B*50:01-C*06:02-DQB1*02:02-DRB1*07:01 (3,7%). Deviations from the Hardy - Weinberg equilibrium not identified.

APA, Harvard, Vancouver, ISO, and other styles

5

Street, J., C. Harvey, E. Cook, J. Johnson, and C. Darke. "Three new HLA-DQB1 alleles -DQB1*03:113,DQB1*06:02:15andDQB1*06:129." Tissue Antigens 86, no. 3 (July 23, 2015): 216–17. http://dx.doi.org/10.1111/tan.12619.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Loginova, Maria, Igor Paramonov, and Andrey Belyaev. "Detection of an HLA‐DQB1*06 variant, HLA‐DQB1*06:364, in a Russian individual." HLA 96, no. 1 (February 11, 2020): 127–28. http://dx.doi.org/10.1111/tan.13831.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Kuzmich, E., A. Nasredinova, A. Alyanskiy, and B. Afanasyev. "Identification of a new HLA-DQB1*06 allele, HLA-DQB1*06:210 , by monoallelic Sanger sequencing." HLA 90, no. 2 (April 18, 2017): 132–33. http://dx.doi.org/10.1111/tan.13043.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Troshina, Ekaterina, Marina Yukina, Nurana Nuralieva, Evgeny Vasilyev, Olga Rebrova, Ravida Akhmatova, Anna Ikonnikova, et al. "Association of Alleles of Human Leukocyte Antigen Class II Genes and Severity of COVID-19 in Patients of the ‘Red Zone’ of the Endocrinology Research Center, Moscow, Russia." Diseases 10, no. 4 (November 2, 2022): 99. http://dx.doi.org/10.3390/diseases10040099.

Full text

Abstract:

The aim of this study was to assess the correlations of clinical features of patients with moderate and severe courses of COVID-19, comorbidity (endocrine, autoimmune, cardiovascular, oncological, and pulmonary diseases), and alleles of the HLA class II system genes. One hundred COVID-19 patients hospitalized in the Endocrinology Research Centre, Moscow, Russia, were analyzed for age, gender, smoking, comorbidity, and invasive mechanical ventilation. Computer tomography was used to assess the severity of the disease. HLA-DRB1, HLA-DQA1, and HLA-DQB1 alleles were identified in samples from 100 patients and samples from 327 randomly selected individuals collected in the prepandemic period (control group). There was no association of gender, age, weight, body mass index, smoking, and comorbidity with the severity of COVID-19. Allele DQB1*06:02-8 was more common in patients (p < 0.00005), and DQB1*06:01 and DQB1*05:03 were more common in the control group (p < 0.00005, and p = 0.0011, respectively). DQB1*06:02-8 can probably be considered as predisposing to moderate and severe COVID-19, and DQB1*06:01 can be considered as protective. No association of these alleles with comorbidity was found. Our results suggest that carriers of predisposing alleles, with cardiovascular and non-autoimmune endocrine diseases, should take more stringent preventive measures, and if infected, a more aggressive COVID-19 treatment strategy should be used.

APA, Harvard, Vancouver, ISO, and other styles

9

Tshabalala, Mqondisi, Charlotte Ingram, Terry Schlaphoff, Veronica Borrill, Alan Christoffels, and Michael S. Pepper. "Human Leukocyte Antigen-A, B, C, DRB1, and DQB1 Allele and Haplotype Frequencies in a Subset of 237 Donors in the South African Bone Marrow Registry." Journal of Immunology Research 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/2031571.

Full text

Abstract:

Human leukocyte antigen- (HLA-) A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele and haplotype frequencies were studied in a subset of 237 volunteer bone marrow donors registered at the South African Bone Marrow Registry (SABMR). Hapl-o-Mat software was used to compute allele and haplotype frequencies from individuals typed at various resolutions, with some alleles in multiple allele code (MAC) format. Four hundred and thirty-eight HLA-A, 235 HLA-B, 234 HLA-DRB1, 41 HLA-DQB1, and 29 HLA-C alleles are reported. The most frequent alleles were A∗02:02g (0.096), B∗07:02g (0.082), C∗07:02g (0.180), DQB1∗06:02 (0.157), and DRB1∗15:01 (0.072). The most common haplotype was A∗03:01g~B∗07:02g~C∗07:02g~DQB1∗06:02~DRB1∗15:01 (0.067), which has also been reported in other populations. Deviations from Hardy-Weinberg equilibrium were observed in A, B, and DRB1 loci, with C~DQB1 being the only locus pair in linkage disequilibrium. This study describes allele and haplotype frequencies from a subset of donors registered at SABMR, the only active bone marrow donor registry in Africa. Although the sample size was small, our results form a key resource for future population studies, disease association studies, and donor recruitment strategies.

APA, Harvard, Vancouver, ISO, and other styles

10

Cho, Louise, Ashminder Kaur, Nezih Cereb, Py‐Yu Lin, and Kuo‐Liang Yang. "HLA‐DQB1*06:132 , an HLA‐DQB1*06 variant, discovered in a Singaporean Malay bone marrow donor." HLA 96, no. 2 (April 19, 2020): 243–44. http://dx.doi.org/10.1111/tan.13889.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Casamitjana, N., J. Gil, E. Campos, M. Santos, N. Nogues, A. Ribera, and E. Palou. "Identification of a novel HLA-DQB1*06 allele, DQB1*0618." Tissue Antigens 58, no. 4 (October 2001): 269–71. http://dx.doi.org/10.1034/j.1399-0039.2001.580409.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

Le, Wei-Bo, Jing-Song Shi, Yang Fan, and Si-Wen Gong. "HLA Alleles and Prognosis of PLA2R-Related Membranous Nephropathy." Clinical Journal of the American Society of Nephrology 16, no. 8 (June 3, 2021): 1221–27. http://dx.doi.org/10.2215/cjn.18021120.

Full text

Abstract:

Background and objectivesAssociations between HLA alleles and susceptibility to M-type phospholipase A2 receptor (PLA2R)–related membranous nephropathy have been well defined previously in Chinese patients. However, the relationships between HLA alleles and kidney outcome remain unclear.Design, setting, participants, & measurementsFive HLA genes (DRB1, DQA1, DQB1, DRB3, and DRB5) were genotyped in a prospective cohort of 392 patients with PLA2R-related membranous nephropathy. The associations between HLA alleles and kidney outcomes were studied.ResultsA total of 79 HLA alleles were identified in this study. Four HLA alleles, DRB1*13:01 (n=12; hazard ratio, 3.7; 95% confidence interval, 1.8 to 7.8; P<0.001), DQB1*06:03 (n=12; hazard ratio, 3.7; 95% confidence interval, 1.8 to 7.8; P<0.001), DRB1*04:05 (n=12; hazard ratio, 3.8; 95% confidence interval, 1.5 to 9.5; P=0.004), and DQB1*03:02 (n=21; hazard ratio, 3.1; 95% confidence interval, 1.4 to 6.7; P=0.005), were associated with a ≥40% eGFR decline during follow-up. DRB1*13:01 and DQB1*06:03 were tightly linked with each other. Forty-four of the 392 patients (11%) carried at least one of the four identified risk HLA alleles in this study. Compared with patients who were negative for all risk HLA alleles, those carrying at least one risk HLA allele had a significant risk of a ≥40% eGFR decline during follow-up (hazard ratio, 3.9; 95% confidence interval, 2.3 to 6.7; P<0.001). After adjusting for age, sex, proteinuria, albumin, eGFR, and anti-PLA2R antibody levels, multivariable Cox analysis showed that patients carrying any of the four risk HLA alleles remained associated with a higher risk of a ≥40% decline in eGFR (hazard ratio, 4.1; 95% confidence interval, 2.3 to 7.1; P<0.001).ConclusionsCarrying any of the HLA alleles, DRB1*13:01/DQB1*06:03, DRB1*04:05, and DQB1*03:02, was independently associated with poor prognosis in Chinese patients with PLA2R-related membranous nephropathy.

APA, Harvard, Vancouver, ISO, and other styles

13

Baek, In-Cheol, Eun-Jeong Choi, Dong-Hwan Shin, Hyoung-Jae Kim, Haeyoun Choi, and Tai-Gyu Kim. "Allele and haplotype frequencies of human leukocyte antigen-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, -DPA1, and -DPB1 by next generation sequencing-based typing in Koreans in South Korea." PLOS ONE 16, no. 6 (June 21, 2021): e0253619. http://dx.doi.org/10.1371/journal.pone.0253619.

Full text

Abstract:

Allele frequencies and haplotype frequencies of HLA-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, -DPA1, and -DPB1 have been rarely reported in South Koreans using unambiguous, phase-resolved next generation DNA sequencing. In this study, HLA typing of 11 loci in 173 healthy South Koreans were performed using next generation DNA sequencing with long-range PCR, TruSight® HLA v2 kit, Illumina MiSeqDx platform system, and Assign™ for TruSight™ HLA software. Haplotype frequencies were calculated using the PyPop software. Direct counting methods were used to investigate the association with DRB1 for samples with only one copy of a particular secondary DRB locus. We compared these allele types with the ambiguous allele combinations of the IPD-IMGT/HLA database. We identified 20, 40, 26, 31, 19, 16, 4, and 16 alleles of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1, respectively. The number of HLA-DRB3/4/5 alleles was 4, 5, and 3, respectively. The haplotype frequencies of most common haplotypes were as follows: A*33:03:01-B*44:03:01-C*14:03-DRB1*13:02:01-DQB1*06:04:01-DPB1*04:01:01 (2.89%), A*33:03:01-B*44:03:01-C*14:03 (4.91%), DRB1*08:03:02-DQA1*01:03:01-DQB1*06:01:01-DPA1*02:02:02-DPB1*05:01:01 (5.41%), DRB1*04:05:01-DRB4*01:03:01 (12.72%), DQA1*01:03:01-DQB1*06:01:01 (13.01%), and DPA1*02:02:02-DPB1*05:01:01 (30.83%). In samples with only one copy of a specific secondary DRB locus, we examined its association with DRB1. We, thus, resolved 10 allele ambiguities in HLA-B, -C (each exon 2+3), -DRB1, -DQB1, -DQA1, and -DPB1 (each exon 2) of the IPD-IMGT/HLA database. Korean population was geographically close to Japanese and Han Chinese populations in the genetic distances by multidimensional scaling (MDS) plots. The information obtained by HLA typing of the 11 extended loci by next generation sequencing may be useful for more exact diagnostic tests on various transplantations and the genetic population relationship studies in South Koreans.

APA, Harvard, Vancouver, ISO, and other styles

14

Cosentini, E., M. Andreani, G. Ciardiello, A. Di Luzio, and M. Testi. "Characterization of a novelHLA-DQB1*06allele,HLA-DQB1*06:04:04." Tissue Antigens 82, no. 1 (April 5, 2013): 73–74. http://dx.doi.org/10.1111/tan.12119.

Full text

APA, Harvard, Vancouver, ISO, and other styles

15

Werneck, Lineu Cesar, Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, and Rosana Herminia Scola. "Multiple sclerosis: disease modifying therapy and the human leukocyte antigen." Arquivos de Neuro-Psiquiatria 76, no. 10 (October 2018): 697–704. http://dx.doi.org/10.1590/0004-282x20180103.

Full text

Abstract:

ABSTRACT Objective: To investigate the potential relationship between the human leukocyte antigen (HLA) type (class I and II) and the response to several disease-modifying therapies (DMTs) in patients with multiple sclerosis (MS). Methods: We analyzed clinical data of 87 patients with MS at the beginning and end of each type of DMT including the disease duration, Expanded Disability Status Scale and Multiple Sclerosis Severity Score (MSSS). Genotyping of HLA-DRB1, HLA-DPB1, HLA-DQB1, HLA-A, HLA-B and HLA-C alleles were identified using high-resolution techniques. Statistical correlation between the HLA type and response to DMTs was done using the initial and final MSSS. Results: Statistical relationships (p < 0.05) were found for only 15 of 245 alleles tested. There was a reduction in the MSSS for patients treated with corticosteroids (DRB1*15:01, DPB1*04:01, DQB1*02:01 and DQB1*03:01), azathioprine (DRB1*03:01, DPB1*04:01, DQB1*03:02, DQB1*06:02, HLA-C*07:02), interferon β-1a 22 mcg (DRB1*11:04, DQB1*03:01 and DQB1*03:02), interferon β-1a 30 mcg (DPB1*02:01, HLA-C*05:01) and interferon β-1b (DQB1*02:01). Conclusion: These findings suggest a few relationships between the HLA and response to DMTs in the disability for some types of HLA class I and II alleles in a specific subset of MS patients.

APA, Harvard, Vancouver, ISO, and other styles

16

Creary, Lisa E., Kalyan C. Mallempati, Sridevi Gangavarapu, Stacy J. Caillier, Jorge R. Oksenberg, and Marcelo A. Fernández-Viňa. "Deconstruction of HLA-DRB1*04:01:01 and HLA-DRB1*15:01:01 class II haplotypes using next-generation sequencing in European-Americans with multiple sclerosis." Multiple Sclerosis Journal 25, no. 6 (April 23, 2018): 772–82. http://dx.doi.org/10.1177/1352458518770019.

Full text

Abstract:

Background: The association between HLA-DRB1*15:01 with multiple sclerosis (MS) susceptibility is well established, but the contribution of the tightly associated HLA-DRB5*01:01 allele has not yet been completely ascertained. Similarly, the effects of HLA-DRB1*04:01 alleles and haplotypes, defined at the full-gene resolution level with MS risk remains to be elucidated. Objectives: To characterize the molecular architecture of class II HLA-DR15 and HLA-DR4 haplotypes associated with MS. Methods: Next-generation sequencing was used to determine HLA-DQB1, HLA-DQA1, and HLA-DRB1/4/5 alleles in 1403 unrelated European-American patients and 1425 healthy unrelated controls. Effect sizes of HLA alleles and haplotypes on MS risk were measured by odds ratio (OR) with 95% confidence intervals. Results: HLA-DRB1*15:01:01:01SG (OR = 3.20, p < 2.2E–16), HLA-DRB5*01:01:01 (OR = 2.96, p < 2.2E–16), and HLA-DRB5*01:01:01v1_STR1 (OR = 8.18, p = 4.3E–05) alleles all occurred at significantly higher frequencies in MS patients compared to controls. The most significant predis-posing haplotypes were HLA-DQB1*06:02:01~ HLA-DQA1*01:02:01:01SG~HLA-DRB1*15:01:01:01SG~HLA-DRB5*01:01:01 and HLA-DQB1*06:02:01~HLA-DQA1*01:02:01:01SG~HLA-DRB1*15:01:01:01SG~HLA-DRB5*01:01:01v1_STR1 (OR = 3.19, p < 2.2E–16; OR = 9.30, p = 9.7E–05, respectively). Analyses of the HLA-DRB1*04 cohort in the absence of HLA-DRB1*15:01 haplotypes revealed that the HLA-DQB1*03:01:01:01~HLA-DQA1*03:03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was protective (OR = 0.64, p = 0.028), whereas the HLA-DQB1*03:02:01~HLA-DQA1*03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was associated with MS susceptibility (OR = 1.66, p = 4.9E–03). Conclusion: HLA-DR15 haplotypes, including genomic variants of HLA-DRB5, and HLA-DR4 haplotypes affect MS risk.

APA, Harvard, Vancouver, ISO, and other styles

17

Cho, M. C., S. Y. Ko, H. B. Oh, Y. S. Heo, and O. J. Kwon. "HLA-DQB1*05:06, a novel HLA-DQB1*05 allele identified by sequence-based typing." Tissue Antigens 77, no. 4 (March 9, 2011): 344–46. http://dx.doi.org/10.1111/j.1399-0039.2010.01630.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

Zawadzka-Starczewska, Katarzyna, Bogusław Tymoniuk, Bartłomiej Stasiak, Andrzej Lewiński, and Magdalena Stasiak. "Actual Associations between HLA Haplotype and Graves’ Disease Development." Journal of Clinical Medicine 11, no. 9 (April 29, 2022): 2492. http://dx.doi.org/10.3390/jcm11092492.

Full text

Abstract:

The association between HLA and the risk of Graves’ disease (GD) has been analyzed for many years. However, the results were often inconsistent and mostly regarded Asian populations. The purpose of our study was to perform HLA genotyping using a next-generation sequencing (NGS) method in Caucasians, to find out which alleles are eventually correlated with GD morbidity as well as which of them can be considered protective. HLA-A, -B, -C, -DQB1, -DRB1 were genotyped using a next-generation sequencing method in 2376 persons, including 159 GD patients and 2217 healthy controls. We have demonstrated a significant association between the risk of GD and the following alleles: HLA-B*08:01, -B*39:06, -B*37:01, -C*07:01, -C*14:02, -C*03:02, -C*17:01, -DRB1*03:01, -DRB1*11:01, -DRB1*13:03, -DRB1*01:03, -DRB1*14:01, -DQB1*03:01, DQB1*02:01. The alleles HLA-B*39:06, -B*37:01, -C*14:02, -C*03:02, -C*17:01, -DRB1*14:01 are novel GD-associated, previously not-reported independent ones with no linkage disequilibrium with other high-risk alleles. On the other hand, the frequencies of HLA-B*07:02, -C*07:02, -C*03:04, DRB1*07:01, -DQB1*02:02, -DQB1*03:03 were significantly lower in GD compared to controls. This study demonstrated the actual relationships between HLA and GD based on the NGS method and provided a novel set of alleles as a reliable tool for an individual personalized risk assessment.

APA, Harvard, Vancouver, ISO, and other styles

19

Rivera-Pirela, Sergio E., Miriam Echeverría, Pedro Salcedo, Georgina Márquez, Zuhey Carrillo, Yennis Parra, Ana María Cipriani, José R. Núñez, and Melchor Álvarez de Mon. "HLA DRB1*, DQB1*, DPA1*, and DPB1* and their association with the pathogenesis of leukemia in the population of Venezuela." Revista Alergia México 63, no. 3 (August 27, 2016): 237. http://dx.doi.org/10.29262/ram.v63i3.147.

Full text

Abstract:

Antecedentes: El complejo de histocompatibilidad es un factor que influye en la patogénesis de las leucemias.Objetivos: se evaluó la presencia de alelos HLA clase II DRB1*, DQB1*, DPA1* y DPB1* en 47 pacientes con leucemia linfoide aguda (LLA) y 48 con leucemia mieloide crónica (LMC), para compararlos con 48 voluntarios sanos de Zulia, Venezuela, y determinar las posibles asociaciones de HLA con las leucemias.Métodos: Se utilizó la técnica de PCR-SSP de baja y alta resolución para las regiones HLA clase II DRB1*, DQB1*, DPA1* y DPB1* conforme las instrucciones del KIT Olerup SSP Genovision.Resultados: Los alelos HLA-DRB1*14, especialmente DRB1*14:21, -DPA1*1:06, -DPA1*01:03,-DPA1*02:01, y los haplotipos HLA-DPA1*01:03-DPB1*04:01, DPA1*01:03-DPB1*02:01, DPA1*01:03-DPB1*99:01, -DRB1*14-DPA1*01:03, -DRB1*15-DPA1*01:03 tuvieron asociación con LMC (RR > 3); los alelos HLA-DRB1*13, -DQB1*02, -DPA1*01:05, -DPA1*01:09 y los haplotipos HLA-DPA1*01:09-DPB1*02:01, DPA1*01:09-DPB1*04:01 resultaron protectores (RR < 1). Los alelos HLA-DQB1*04, -DQB1*05, -DPA1*1:06, -DPA1*01:07, -DPA1*1:08 tuvieron asociación positiva con LLA. Los alelos HLA-DPA1*01:09, -DPA1*02:01, -DPB1*02:01, -DPB1*03:01 y los haplotipos HLA-DPA1*01:03-DPB1*04:02, -DPA1*01:09-DPB1*02:01, -DPA1*01:09-DPB1*04:01, -DPA1*02:01-DPB1*04:02 resultaron asociados negativamente.Conclusiones: La ausencia de asociaciones con la región HLA-DRB1* en LLA y los otros patrones de asociación identificados sugieren marcadas diferencias en las patogénesis de las leucemias, lo que orienta hacia posibles deficiencias en la presentación antigénica para LLA o posibles efectos de mimetismo molecular en LMC.

APA, Harvard, Vancouver, ISO, and other styles

20

Tailor, Arun, Xiaoli Meng, Kareena Adair, John Farrell, James C. Waddington, Ann Daly, Munir Pirmohamed, Gordon Dear, B. Kevin Park, and Dean J. Naisbitt. "HLA DRB1*15:01-DQB1*06:02-Restricted Human CD4+ T Cells Are Selectively Activated With Amoxicillin-Peptide Adducts." Toxicological Sciences 178, no. 1 (August 10, 2020): 115–26. http://dx.doi.org/10.1093/toxsci/kfaa128.

Full text

Abstract:

Abstract Amoxicillin-clavulanate is the most common cause of idiosyncratic drug-induced liver injury (DILI). Drug-specific CD4+ T cells have been detected in patients with DILI, suggestive of an immune etiology. Furthermore, genetic associations including the human leucocyte antigen (HLA) DRB1*15:01-DQB1*06:02 haplotype influence susceptibility. Amoxicillin forms protein adducts that are postulated to activate T cells, by conjugating with lysine residues. However, a role for such adducts has not been described. This study aimed to (1) investigate whether amoxicillin-modified HLA-DRB1*15:01-DQB1*06:02 binding peptides selectively activate DILI patient T cells and (2) define the nature of the T-cell response with respective to antigen structure. Peptides carrying lysine residues for amoxicillin binding in positions (KP) 2-6 and anchors for the HLA-DRB1*15:01-DQB1*06:02 haplotype were designed. The amoxicillin-modified peptides were characterized by mass spectrometry prior to culturing with patient peripheral blood mononuclear cell. T-cell clones were then tested for specificity with amoxicillin, unmodified- and amoxicillin-modified peptides, and structural variants. Amoxicillin-modified KP-2 and KP-3 peptide-specific CD4+ clones proliferated and secreted interferon gamma (IFN-γ), interleukin (IL)-10, perforin and/or IL-17/IL-22 in a dose-dependent manner and displayed no cross-reactivity with amoxicillin, unmodified peptide or with positional derivatives. The T cells response was HLA class II restricted and the amoxicillin-modified peptides bound selectively to HLA-DRB1*15:01 and/or DQB1*06:02. To conclude, we show that amoxicillin-modified peptides bind to both components of the risk haplotype to stimulate DILI patient T cells and describe the importance of the position of nucleophilic lysine residue in the HLA binding peptide sequence.

APA, Harvard, Vancouver, ISO, and other styles

21

Madore, Anne-Marie, Vanessa T. Vaillancourt, Yuka Asai, Reza Alizadehfar, Moshe Ben-Shoshan, Deborah L. Michel, Anita L. Kozyrskyj, et al. "HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergy." European Journal of Human Genetics 21, no. 10 (February 27, 2013): 1181–84. http://dx.doi.org/10.1038/ejhg.2013.13.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Laivacuma, Sniedze, Jeļena Eglīte, Aleksejs Derovs, and Ludmila Vīksna. "Distribution of HLA Allele Frequencies in Patients with Cystic and Alveolar Echinococcosis in Latvia." Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences. 73, no. 4 (August 1, 2019): 296–303. http://dx.doi.org/10.2478/prolas-2019-0047.

Full text

Abstract:

Abstract The aim of this study was to assess the relationship between HLA Class II alleles in two groups of patients in Latvia: patients with cystic and alveolar echinococcosis. The study included 37 patients from the Rīga East Clinical University Hospital with echinococcosis (29 patients with cystic echinococcosis and eight patients with alveolar echinococcosis) and 100 healthy control persons without echinococcosis. HLA Class II allele genotyping was performed using Real-time polymerase chain reaction–sequence specific primer (RT-PCR-SSP). The odds ratios (OR), with 95% confidence intervals (95% CI), were calculated using statistical analysis performed with IBM SPSS Statistics for Windows, Version 22.0, to evaluate the risk of developing the disease in an individual having a particular HLA genotype. In the case of cystic echinococcosis a more severe course of a disease can be anticipated in the presence of HLA-DRB1 alleles *17:01 and *07:01, -DQB1 *03:02, and *03:01, -DQA1*04:01 and haplotypes HLA-DRB1*04:01/-DQB1*03:01/ -DQA1*03:01, HLADRB1*11:01/ -DQB1*03:01 /-DQA1*05:01. However, in the group with alveolar echinococcosis it was associated with the HLA-DRB1 alleles *17:01 and *07:01, -DQB1 *05:01 and haplotypes HLA- DRB1*17:01/-DQB1*02:01-2/-DQA1*01:01, HLA-DRB1*11:01/ -DQB1*03:01/-DQA1*01:03 and HLA-DRB1*11:01/-DQB1*03:01/-DQA1*03:01. HLADRB1*15:01/-DQÂ1*06:02-8/-DQA1*05:01 and HLA-DRB1*13:01/-DQB1*02:01-2/-DQA1*05:01 haplotypes were protective in all patient groups. The limitations of this exploratory study indicate that a broader study needs to be conducted for revealing specific risk and protective HLA Class II haplotypes for patients with cystic and alveolar echinococcosis in Latvia.

APA, Harvard, Vancouver, ISO, and other styles

23

Ameen, Reem, Salem H. Al Shemmari, and Steven G. E. Marsh. "HLA Haplotype Frequencies and Genetic Profiles of the Kuwaiti Population." Medical Principles and Practice 29, no. 1 (March 15, 2019): 39–45. http://dx.doi.org/10.1159/000499593.

Full text

Abstract:

Objective: The aim of this study was to assess the HLA haplotype frequencies and genetic profiles of the Kuwaiti population. Materials and Methods: Whole venous blood was obtained from 595 healthy, unrelated Kuwaiti volunteers. The study population was genotyped for HLA class I (HLA-A, HLA-B, and HLA-C) and class II (HLA-DRB1 and HLA-DQB1) loci using sequence-specific oligonucleotide (SSO) probe-based hybridization and high-resolution HLA genotyping. Haplotype frequencies were estimated using an implementation of the expectation maximization algorithm that resolves both phase and allelic ambiguity. The Kuwaiti population was compared with other populations from the US National Marrow Donor Program (NMDP), by running a principal component analysis (PCA) on the relevant haplotype frequencies. Results: The most common HLA class I alleles in Kuwait were HLA-A*02:01g, HLA-C*06:02g, and HLA-B*50:01g with frequencies of 16, 14, and 12%, respectively. The most common HLA class II alleles in Kuwait were HLA-DQB1*02:01g and HLA-DRB1*07:01 with frequencies of 29.7 and 16.5%, respectively. The most common Kuwaiti haplotype observed was HLA-A*02:01g∼HLA-C*06:02g∼HLA-B*50:01g∼HLA-DRB1*07:01∼HLA-DQB1*02:01g at a frequency of 2.3%. The PCA demonstrated close genetic proximity of the Kuwaiti population with Middle Eastern, Southeast Asian, and North African populations in the NMDP. Conclusion: Identifying the haplotype diversity in the Kuwaiti population will contribute to the selection of an HLA-match for HSCT, disease associations, pharmacogenomics, and knowledge of population HLA diversity.

APA, Harvard, Vancouver, ISO, and other styles

24

Witter, K., T. Albert, R. Zahn, and T. Kauke. "A novel HLA-DQB1*06 allele, DQB1*0628, found through routine sequence-based HLA typing and confirmation of DQB1*060302." Tissue Antigens 69, no. 1 (January 2007): 102–3. http://dx.doi.org/10.1111/j.1399-0039.2006.00733.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Mohammad, Tawfeeq, Mohammad Al-Kurtas, Haider Zalzala, Batool Mahdi, Hyam Raouf, Laheeb Abid, and Zena Nehad. "Human leukocytes antigen HLA-DQB1 determine susceptibility to thyroid disease." Ibnosina Journal of Medicine and Biomedical Sciences 07, no. 06 (December 2015): 219–22. http://dx.doi.org/10.4103/1947-489x.210288.

Full text

Abstract:

Background: Thyroid disease is a common disease in women of the reproductive age. This disease arises due to complex interactions between environmental and genetic factors. However, the interactions between genes and environment are yet well defined. Among the main susceptibility genes that have been identified is the HLA-DQB1 gene locus. The major environmental factors include iodine, medications, infection, smoking, and possibly stress. Aim of study: To ascertain the association between HLA-DQB1 alleles and goitrous thyroid disease in a sample of Iraqi Arab Muslims. Patients and methods: A cross sectional case-control comparative study was carried out. Patients with thyroid disorders who attended this hospital in the period from September 2013 to June 2014 for thyroidectomy were studied. HLA-DQB1genotyping was done using a panel of sequence-specific oligonucleotide probes (SSOP) using HLA-DQB1 amplification and hybridization kits (SSO HLA type DQB1 plus and Mastermix for HLA type DQB1 Amp plus) using automated method by AutoLipa-48. Results: There was an increased frequency of HLADQB1*03:01and 0601 in control group compared with patients group (P=0.005, Odds ratio=0.0164, 95% CI: 0.0009-0.2926) and (P=0.01, Odd ratio=0.1667, 95% CI: 0.0412 to 0.6750) respectively. Other alleles like HLA-DQB1* 0202, 03:02, 0501 and 06:02 were detected in the patients' group but not in controls. Conclusions: HLA alleles have an effect on development thyroid disease. HLADQB1* 0301 and 0601 is a protective in Iraqi Arab Muslims individuals.

APA, Harvard, Vancouver, ISO, and other styles

26

Zhang, Lin, Yuan, Lin, and Huang. "HLA-DQB1 and HLA-DRB1 Variants Confer Susceptibility to Latent Autoimmune Diabetes in Adults: Relative Predispositional Effects among Allele Groups." Genes 10, no. 9 (September 13, 2019): 710. http://dx.doi.org/10.3390/genes10090710.

Full text

Abstract:

Latent autoimmune diabetes in adults (LADA) was recently demonstrated to be the most frequent form of adult-onset autoimmune diabetes mellitus. Case–control studies have investigated the relationship between human leukocyte antigen (HLA)-DQB1 and HLA-DRB1 polymorphisms and LADA risk, but their conclusions are inconsistent. This study aimed to more precisely explore the correlation between these HLA gene variants and LADA development. Eight databases, including PubMed, Embase, and Medline, were systematically searched for relevant studies up to September 15, 2018. We performed this retrospective study using meta-analysis and relative predispositional effect (RPE) methods. The meta-analysis results indicated that DQB1*02 (odds ratio (OR) = 1.685, pc < 0.005) and DQB1*06 (OR = 0.604, pc = 0.010) have opposite effects on susceptibility to LADA, while a significant decrease in LADA risk caused by DQB1*05 (OR = 0.764, pc = 0.100) disappeared upon Bonferroni correction. The RPE method confirmed the roles of DQB1*02 (χ² = 46.475, p < 0.001) and DQB1*06 (χ² = 17.883, p < 0.001) and further suggested protective effects of DQB1*05 (χ² = 16.496, p < 0.001). Additionally, the meta-analysis results showed that DRB1*03 (OR = 2.685, pc < 0.013), DRB1*04 (OR = 1.954, pc < 0.013), and DRB1*09 (OR = 1.346, pc < 0.013) are associated with increased LADA risk, while DRB1*12 (OR = 0.600, pc < 0.013) and DRB1*13 (OR = 0.583, pc < 0.013) carriers have a decreased risk of developing LADA. Furthermore, the RPE method revealed that DRB1*03 (χ² = 98.754, p < 0.001), DRB1*04 (χ² = 94.685, p < 0.001), DRB1*09 (χ² = 40.489, p < 0.001), DRB1*01 (χ² = 12.181, p < 0.001), DRB1*07 (χ² = 10.882, p = 0.001), and DRB1*08 (χ² = 5.000, p = 0.025) play protective roles against LADA. LADA showed a close relationship with genetic polymorphisms of HLA-DQB1 and WHLA-DRB1, which could contribute to a better understanding of disease pathogenesis and the identification of predisposing loci in the diagnosis and treatment of LADA.

APA, Harvard, Vancouver, ISO, and other styles

27

Lehmann, Claudia, Henry Loeffler-Wirth, Vera Balz, Juergen Enczmann, Ramona Landgraf, Nicole Lakowa, Thomas Gruenewald, Johannes C. Fischer, and Ilias Doxiadis. "Immunogenetic Predisposition to SARS-CoV-2 Infection." Biology 12, no. 1 (December 25, 2022): 37. http://dx.doi.org/10.3390/biology12010037.

Full text

Abstract:

Herein, we included 527 individuals from two Hospitals, Chemnitz and University-Hospital Leipzig. In total, 199 were negative for PCR and 328 were positive upon first admission. We used next generation sequencing for HLA-A, B, C, DRB1, DRB345, DQA1, DQB1, DPA1, and DPB1, and in some cases, HLA-E, F, G, and H. Furthermore, we molecularly defined 22 blood group systems comprising 26 genes and 5 platelet antigen genes. We observed a significant enrichment of homozygosity for DQA/DQB in the positive group. Within the negative subjects, HLA-B*57:01, HLA-B*55:01, DRB1*13:01, and DRB1*01:01 were enriched, and in the positive group, homozygosity for DQA/DQB, DRB1*09:01, and DRB1*15:01 was observed. DQA1*01:01, DQA1*02:01, and DQA1*01:03 were enriched in the negative group. HLA-DQB1*06:02 was enriched in the positive group, and HLA-DQB1*05:01 and HLA-DQB1*06:03 were enriched in the negative group. For the blood group systems MNS, RH, LE, FY, JK, YT, DO, and KN, enrichment was seen in both groups, depending on the antigen under observation. Homozygosity for D-positive RHD alleles, as well as the phenotypes M-N+ of the MNS blood group system and Yk(a-) of the KN system, were enriched in the positive group. All of these significances disappeared upon correction. Subjects who carried homozygous HPA-1a were more frequent in the negative group, contrasting with the finding that HPA-1ab was enriched in the positive group.

APA, Harvard, Vancouver, ISO, and other styles

28

De Silvestri, A., C. Capittini, G. Mallucci, R. Bergamaschi, C. Rebuffi, A. Pasi, M. Martinetti, and C. Tinelli. "The Involvement of HLA Class II Alleles in Multiple Sclerosis: A Systematic Review with Meta-analysis." Disease Markers 2019 (November 6, 2019): 1–7. http://dx.doi.org/10.1155/2019/1409069.

Full text

Abstract:

Multiple Sclerosis (MS) displays a heterogeneous clinical onset and progression, which are mostly unpredictable, but demyelination of the central nervous system (CNS) leads to substantial deficits of sensory, motor, autonomic, and neurocognitive functions. Considering all genetic studies on MS, including the advanced genome-wide association studies, the risk linked to HLA alleles remains the highest among other susceptibility genetic variants. However, given the genetic variability of HLA alleles in different ethnic groups, we conducted a systematic review of reviews and meta-analyses aiming at summarizing all the results on the association between MS and HLA class II genes. We systematically searched meta-analyses and systematic reviews dealing with MS and HLA in all ethnicities. From 154 records, we included 5 articles collecting HLA data from 15,232 MS patients and 24,194 ethnically matched controls. DRB1∗15 (OR ranging from 1.39 in Chinese Han to 2.59 in Caucasians) and DQB1∗06:02 (OR ranging from 1.91 in Caucasians to 2.49 in Colombian) alleles confer an increased risk for MS transethnically (Caucasians, Chinese, South Americans, Carribeans, Middle Easterners, Japanese, and North Africans). DRB1∗01, DRB1∗09, DRB1∗11, DRB1∗12, and DRB1∗16 alleles were protective, in agreement with the type of amino-acidic (aa) residues (ranging from position 9 to 90) included in pockets 1, 4, 6, 7, and 9, which are most involved in peptide presentation. Changes in aa residues affect the capability of HLA molecules in binding myelin peptides. DQB1∗06:02 risk allele seems to be the most interesting target as humanized mice expressing only DQB1∗06:02 develop MS-like disease mediated by autoimmune reactions against myelin oligodendrocytic basic protein that stabilizes the myelin. Our summary of results from a high number of patients and controls suggests that allelic variants from both DQB1 and DRB1 genes are equally involved in MS susceptibility/protection transethnically.

APA, Harvard, Vancouver, ISO, and other styles

29

Dittmar, Manuela, Maximilian Ide, Michael Wurm, and George J. Kahaly. "Early onset of polyglandular failure is associated with HLA-DRB1*03." European Journal of Endocrinology 159, no. 1 (July 2008): 55–60. http://dx.doi.org/10.1530/eje-08-0082.

Full text

Abstract:

ObjectivesPolyglandular failure or autoimmunity (PGA) involves at least two endocrine diseases. Several genes may play a role in its etiology. This study analyzed 1) whether HLA-DRB1, HLA-DQB1, and MHC class I chain-related gene A (MICA) polymorphisms are associated in PGA and 2) whether PGA patients display stronger associations with these immune genes than patients with monoglandular autoimmunity (MGA).DesignAssociation study.MethodsHLA-DRB1, HLA-DQB1, and MICA alleles were analyzed in 73 patients with PGA, 283 with MGA, and 206 healthy controls. The HLA-DRB1 and HLA-DQB1 polymorphisms were determined with PCR-amplified DNA being hybridized with PCR-sequence-specific oligonucleotide probes. MICA microsatellites were typed by PCR amplification and fragment size analysis on a DNA sequencer.ResultsHLA-DRB1*03 was strongly increased in patients with PGA (50.7%) versus both controls (21.8%, Pc<0.0001; RR=2.32, 95% CI=1.62–3.33) and MGA (11.4%, Pc<0.0001). HLA-DRB1*03 was highly prevalent in PGA patients with early versus late disease onset (P<0.05, logistic regression analysis). HLA-DRB1*04 allele carriers were more present in PGA versus controls (53.4% vs 22.4%, Pc<0.0001, RR=2.38, 95% CI=1.68–3.38). Further, HLA-DQB1*02 was increased in PGA versus controls (Pc<0.01), whereas HLA-DQB1*06 was decreased (Pc<0.001). Patients with PGA showed more MIC A5.1 and less MIC A6 allele carriers than controls (NS). Presence of the MIC A5.1 allele was not associated with the HLA-DRB1*03 or HLA-DQB1 alleles.ConclusionsHLA-DRB1*03 is a stronger genetic marker in PGA than in MGA, foremost in those with early disease onset.

APA, Harvard, Vancouver, ISO, and other styles

30

Shaker, Olfat, Heba Bassiony, Maissa El Raziky, Samer S. El-Kamary, Gamal Esmat, Akmal M. El-Ghor, and Mona M. Mohamed. "Human Leukocyte Antigen Class II Alleles (DQB1 and DRB1) as Predictors for Response to Interferon Therapy in HCV Genotype 4." Mediators of Inflammation 2013 (2013): 1–10. http://dx.doi.org/10.1155/2013/392746.

Full text

Abstract:

Human leukocyte antigens class II play an important role in immune response against HCV. We investigated whether HLA class II alleles influence susceptibility to HCV infection and response to interferon therapy. HLA-DRB1 and -DQB1 loci were genotyped using PCR-SSO Luminex technology. According to our regimen, 41 (66%) of patients achieved sustained virological response to combined treatment of IFN and ribavirin. Frequencies of DQB1*0313 allele and DRB1*04-DRB1*11, DQB1*0204-DQB1*0313, DQB1*0309-DQB1*0313, and DQB1*0313-DQB1*0319 haplotypes were significantly more frequent in nonresponders than in responders. In contrast, DQB1*02, DQB1*06, DRB1*13, and DRB1*15 alleles were significantly more frequent in responders than in nonresponders. Similarly, DRB1*1301, DRB1*1361, and DRB1*1369 alleles and DRB1*1301-DRB1*1328, DRB1*1301-DRB1*1361, DRB1*1301-DRB1*1369, DRB1*1328-DRB1*1361, and DRB1*1328-DRB1*1369 haplotypes were significantly found only in responders. Some alleles and linkages showed significantly different distributions between patient and healthy groups. These alleles may be used as predictors for response to treatment or to susceptibility to HCV infection in the Egyptian population.

APA, Harvard, Vancouver, ISO, and other styles

31

He, J. J., W. Zhang, J. He, F. M. Zhu, and H. J. Lv. "Characterization of a novel allele,HLA-DQB1*06:47." Tissue Antigens 82, no. 1 (April 26, 2013): 74–75. http://dx.doi.org/10.1111/tan.12127.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Kovacs, Andrea A. Z., Naoko Kono, Chia-Hao Wang, Daidong Wang, Toni Frederick, Eva Operskalski, Phyllis C. Tien, et al. "Association of HLA Genotype With T-Cell Activation in Human Immunodeficiency Virus (HIV) and HIV/Hepatitis C Virus–Coinfected Women." Journal of Infectious Diseases 221, no. 7 (November 10, 2019): 1156–66. http://dx.doi.org/10.1093/infdis/jiz589.

Full text

Abstract:

Abstract Background Global immune activation and HLA alleles are each associated with the pathogenesis of human immunodeficiency virus (HIV) and hepatitis C virus . Methods We evaluated the relationship between 44 HLA class I and 28 class II alleles and percentages of activated CD8 (CD8+CD38+DR+) and CD4 (CD4+CD38+DR+) T cells in 586 women who were naive to highly active antiretroviral therapy. We used linear generalized estimating equation regression models, adjusting for race/ethnicity, age, HIV load, and hepatitis C virus infection and controlling for multiplicity using a false discovery rate threshold of 0.10. Results Ten HLA alleles were associated with CD8 and/or CD4 T-cell activation. Lower percentages of activated CD8 and/or CD4 T cells were associated with protective alleles B*57:03 (CD8 T cells, −6.6% [P = .002]; CD4 T cells, −2.7% [P = .007]), C*18:01 (CD8 T cells, −6.6%; P < .0008) and DRB1*13:01 (CD4 T cells, −2.7%; P < .0004), and higher percentages were found with B*18:01 (CD8 T cells, 6.2%; P < .0003), a detrimental allele. Other alleles/allele groups associated with activation included C*12:03, group DQA1*01:00, DQB1*03:01, DQB1*03:02, DQB1*06:02, and DQB1*06:03. Conclusion These findings suggest that a person’s HLA type may play a role in modulating T-cell activation independent of viral load and sheds light on the relationship between HLA, T-cell activation, immune control, and HIV pathogenesis.

APA, Harvard, Vancouver, ISO, and other styles

33

Fenske, Timothy S., and Lee Ann Baxter-Lowe. "Two novel HLA-DQB1*06 alleles reveal additional heterogeneity of HLA-DQw1." Tissue Antigens 40, no. 1 (July 1992): 49–52. http://dx.doi.org/10.1111/j.1399-0039.1992.tb01958.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Diego, Vincent P., Bernadette W. Luu, Alexis Garza, Marco Hofmann, Marcio A. Almeida, Jerry S. Powell, Long V. Dinh, et al. "Disentangling the Effects of HLA DRB1*15:01 and DQB1*06:02 to Establish the True HLA Risk Allele for Inhibitor Development in the Treatment of Hemophilia A." Blood 136, Supplement 1 (November 5, 2020): 1–2. http://dx.doi.org/10.1182/blood-2020-142716.

Full text

Abstract:

The HLA haplotype DRB1*15:01/DQB1*06:02 has been shown to be associated with the development of inhibitory antibodies ("inhibitors") against therapeutic FVIII (tFVIII) proteins in Hemophilia A (HA) patients. Moreover, this same haplotype has also been implicated with an increased risk for the development of multiple sclerosis, narcolepsy, and drug-induced-hypersensitivity and -liver-injury. Recent reports in the literature have indicated that the alleles of this haplotype may have differential effects on immunogenicity despite the fact that they are in strong linkage disequilibrium (LD). Thus, the question arises as to which of the two constituent alleles of this haplotype is the true HLA risk allele. To address this question we analyzed peptidomic profiling data on HLA-class-II (HLAcII)-presented peptides from dendritic cell (DC)-protein processing and presentation assays (PPPAs) performed in two independent experiments performed by Peyron et al. (2018) and Diego et al. (2020) which reported results on both the HLA-DQ and -DR isomers. The tFVIII in both experiments is full-length recombinant FVIII (FL-rFVIII). We performed log-linear mixed model analyses under two models, where the dependent variable in both models is the logarithm of the expected peptide count. Under Model 1, we analyzed in the fixed effect component of the model a single HLA allele predictor variable consisting of 10 levels represented by distinct DRB1 and DQB1 alleles (4 and 6 levels, respectively). Under this model, we analyzed in the random effects component of the model variables for individuals (8 and 9 levels from Peyron et al. and Diego et al., respectively), experiments (2 levels for Peyron et al. and Diego et al.), and HLA isomers (2 levels for DQ and DR). The random effects component of the model serves to reduce the error (or "noise") in our estimation of the predictive effect of HLA alleles for the peptide counts by accounting for the clustering due to individuals, experiments, and isomers. This approach therefore can be understood as maximizing the signal-to-noise ratio. Model 2 was more focused in that the single HLA allele predictor variable in the fixed effect component consisted of only DQB1*06:02 and DRB1*15:01. Model 2 was also simpler in that we only accounted for two random effect variables, namely for individuals (in this case 2 and 6 levels for Peyron et al. and Diego et al., respectively) and experiments. Thus, Model 2 is a direct head-to-head comparison of the two main HLA alleles of interest. The Model 1 results are reported in Figure 1A and B, where it can be seen that relative to the baseline reference allele provided by DQB1*02:01, both DQB1*06:02 and DRB1*15:01 are at significantly increased risk of contributing to the overall peptide count. Results are reported as risk ratios (RRs) and their associated 95% confidence interval lower and upper bounds (95% CI LB and 95% CI UB). For DQB1*06:02 and DRB1*15:01 respectively, we found a RR (95% CI LB, 95% CI UB) of 1.76 (1.24, 2.50) and 14.16 (10.38, 19.33). Because they are compared to the same baseline, the two RRs may also be directly compared, thus showing that DRB1*15:01 contributes significantly more to the overall peptide count than DQB1*06:02. Under Model 2 (the head-to-head comparison), the RR for the DRB1*15:01 allele against the baseline DQB1*06:02 allele is 7.00 (5.80, 8.44) (Figure 2A and B). These results contribute to the field of precision medicine because they demonstrate that even in the case of alleles in tight LD, their effects can be effectively disentangled by a DC-PPPA and a log-linear mixed model analysis. Our results support the conclusion that in regard to the well-known risk haplotype of DQB1*06:02/DRB1*15:01, the true HLA risk allele seems to be DRB1*15:01. Disclosures Luu: Haplogenics Corporation: Current Employment. Hofmann:CSL Behring: Current Employment. Powell:Haplogenics Corporation: Membership on an entity's Board of Directors or advisory committees. Dinh:Haplogenics Corporation: Current Employment. Escobar:National Hemophilia Foundation: Consultancy, Membership on an entity's Board of Directors or advisory committees; Takeda: Consultancy, Membership on an entity's Board of Directors or advisory committees; Sanofi: Consultancy, Membership on an entity's Board of Directors or advisory committees; Genentech, Inc.: Consultancy, Membership on an entity's Board of Directors or advisory committees; Novo Nordisk: Consultancy, Membership on an entity's Board of Directors or advisory committees; Pfizer: Consultancy, Membership on an entity's Board of Directors or advisory committees. Maraskovsky:CSL Behring: Current Employment. Howard:Haplogenics Corporation: Membership on an entity's Board of Directors or advisory committees.

APA, Harvard, Vancouver, ISO, and other styles

35

Ndung'u, Thumbi, Simani Gaseitsiwe, Enoch Sepako, Florence Doualla-Bell, Trevor Peter, Soyeon Kim, Ibou Thior, Vladimir A. Novitsky, and Max Essex. "Major Histocompatibility Complex Class II (HLA-DRB and -DQB) Allele Frequencies in Botswana: Association with Human Immunodeficiency Virus Type 1 Infection." Clinical Diagnostic Laboratory Immunology 12, no. 9 (September 2005): 1020–28. http://dx.doi.org/10.1128/cdli.12.9.1020-1028.2005.

Full text

Abstract:

ABSTRACT Southern Africa is facing an unprecedented public health crisis due to the high prevalence of human immunodeficiency virus type 1 (HIV-1). Vaccine development and testing efforts, mainly based on elicitation of HIV-specific T cells, are under way. To understand the role of human leukocyte antigen (HLA) class II alleles in HIV pathogenesis and to facilitate HLA-based HIV-1 vaccine design, we analyzed the frequencies of HLA class II alleles within the southern African country of Botswana. Common HLA class II alleles were identified within the Batswana population through the molecular genotyping of DRB and DQB1 loci. The DRB1 allele groups DRB1*01, DRB1*02/15, DRB1*03, DRB1*11, and DRB1*13 were encountered at frequencies above 20%. Within the DQB1 locus, DQB1*06 (47.7%) was the most common allele group, followed by DQB1*03 (39.2%) and DQB1*04 (25.8%). We found that DRB1*01 was more common in HIV-negative than in HIV-positive individuals and that those who expressed DRB1*08 had lower median viral loads. We demonstrate that the frequencies of certain HLA class II alleles in this Batswana population differ substantially from those in North American populations, including African-Americans. Common allele groups within Botswana cover large percentages of other African populations and could be targeted in regional vaccine designs.

APA, Harvard, Vancouver, ISO, and other styles

36

Ueda, Sho, Daisuke Oryoji, Ken Yamamoto, Jaeduk Yoshimura Noh, Ken Okamura, Mitsuhiko Noda, Koichi Kashiwase, et al. "Identification of Independent Susceptible and Protective HLA Alleles in Japanese Autoimmune Thyroid Disease and Their Epistasis." Journal of Clinical Endocrinology & Metabolism 99, no. 2 (February 1, 2014): E379—E383. http://dx.doi.org/10.1210/jc.2013-2841.

Full text

Abstract:

Background: Autoimmune thyroid disease (AITD) includes Graves disease (GD) and Hashimoto thyroiditis (HT), which partially share immunological features. Determining the genetic basis that distinguishes GD and HT is a key to understanding the differences between these 2 related diseases. Aim: The aims of this study were to identify HLA antigens that can explain the immunopathological difference between GD and HT and to elucidate epistatic interactions between protective and susceptible HLA alleles, which can delineate the distinct function of HLA in AITD etiology. Design: We genotyped 991 patients with AITD (547 patients with GD and 444 patients with HT) and 481 control subjects at the HLA-A, HLA-C, HLA-B, DRB1, DQB1, and DPB1 loci. A direct comparison of HLA antigen frequencies between GD and HT was performed. We further analyzed an epistatic interaction between the susceptible and protective HLA alleles in the development of GD and HT. Results: We identified 4 and 2 susceptible HLA molecules primarily associated with GD and HT, respectively, HLA-B*35:01, HLA-B*46:01, HLA-DRB1*14:03, and HLA-DPB1*05:01 for GD and HLA-A*02:07 and HLA-DRB4 for HT. In a direct comparison between GD and HT, we identified GD-specific susceptible class II molecules, HLA-DP5 (HLA-DPB1*05:01; Pc = 1.0 × 10−9) and HLA-DR14 (HLA-DRB*14:03; Pc = .0018). In contrast, HLA components on 3 common haplotypes in Japanese showed significant protective effects against the development of GD and HT (HLA-A*24:02-C*12:02-B*52:01-DRB1*15:02-DQB1*06:01-DPB1*09:01 and HLA-A*24:02-C*07:02-B*07:02-DRB1*01:01-DQB1*05:01-DPB1*04:02 haplotypes for GD and HLA-A*33:03-C*14:03-B*44:03-DRB1*13:02-DQB1*06:04-DPB1*04:01 haplotype for GD and HT). Interestingly, the representative protective HLA, HLA-DR13 (HLA-DRB1*13:02), was epistatic to susceptible HLA-DP5 in controlling the development of GD. Conclusion: We show that HLA exerts a dual function, susceptibility and resistance, in controlling the development of GD and HT. We also show that the protective HLA allele is partially epistatic to the susceptible HLA allele in GD.

APA, Harvard, Vancouver, ISO, and other styles

37

Fakhoury, H. A., M. Alzahrani, A. S. Alaskar, and A. H. Hajeer. "Description of a novel HLA-DQB1 allele,HLA-DQB1*06:126, in the Saudi stem cell donor registry." HLA 87, no. 1 (November 24, 2015): 58–59. http://dx.doi.org/10.1111/tan.12703.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Fagbemi, Kaossarath A., Thierry C. Marc Medehouenou, Simon Azonbakin, Marius Adjagba, Razack Osseni, Jocelyne Ahoueya, Arnaud Agbanlinsou, Raphael Darboux, Lamine Baba-Moussa, and Anatole Laleye. "HLA Class II Allele, Haplotype, and Genotype Associations with Type 1 Diabetes in Benin: A Pilot Study." Journal of Diabetes Research 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/6053764.

Full text

Abstract:

Background. Several studies have reported the implication of HLA-DR/DQ loci in the susceptibility to type 1 diabetes (T1D). Since no such study has yet been performed in Benin, this pilot one aimed at assessing HLA class II allele, haplotype, and genotype associations with T1D. Material and Methods. Class II HLA genotyping was performed in 51 patients with T1D and 51 healthy unrelated controls by means of the PCR-SSP method. The diagnosis of T1D was set up according to American Diabetes Association criteria. Odds ratio (OR) and its 95% confidence interval (95% CI) were calculated to assess the associations between T1D and HLA alleles, haplotypes, and genotypes. Results. Participants were aged 1–24 years. T1D was significantly associated with DR3, DQA1∗05:01, DQB1∗02:01, and DR3-DR4. No significant associations were observed with DR4, DQB1∗03:02, and DQB1∗06:02. Conclusion. Certain HLA class II alleles, haplotypes, and genotypes were related to T1D and may be used as genetic susceptibility markers to T1D in Benin.

APA, Harvard, Vancouver, ISO, and other styles

39

Skibola, Christine F., Lucia Conde, Martyn T. Smith, and Fenna C. M. Sille. "Functional Characterization of HLA SNPs Associated with Risk of Follicular Lymphoma." Blood 120, no. 21 (November 16, 2012): 1551. http://dx.doi.org/10.1182/blood.v120.21.1551.1551.

Full text

Abstract:

Abstract Abstract 1551 Background: Genome-wide association studies (GWAS) suggest an important role of genetic variation in the etiology of follicular lymphoma (FL). Multiple susceptibility alleles in the human leukocyte antigen (HLA) Class I and II regions on chromosome 6p21.33–32 have been identified for FL, including rs10484561 (OR = 1.95, P = 1.12×10−29) and rs2647012 SNP (OR = 0.64, P = 2×10−21) (Conde et al., Nat Gen, 2010; Smedby et al. Plos Gen, 2011). Moreover, high-resolution HLA typing using next-generation sequencing has identified a number of HLA alleles associated with FL including the extended haplotype DRB1*01:01—DQA1*01:01—DQB1*05:01 that is in complete linkage disequilibrium with rs10484561 (D'=1), and DRB1*15-DQA1*01-DQB1*06, which is highly correlated with rs2647012 (D'=1) (Skibola et al., Tissue Antigens, 2012). We hypothesized that these SNPs or protein variants may alter immune responses to specific antigens and influence tumor development through effects on gene expression or protein structure. To gain a further understanding of the mechanisms involved, here we explored the effects of HLA alleles on expression at the transcriptional and protein level. Methods: HLA-DRB1, HLA-DQB1 and HLA-DQA1 mRNA expression and protein levels were measured by RT-qPCR and flow cytometry, respectively, in 40 lymphoblastoid cell lines (Coriell) where wild type and variant rs10484561 and rs2647012 genotypes were compared. Results: HLA-DQB1 gene expression changes were significantly associated with rs2647012 genotypes, where the presence of the variant (protective) allele correlated with higher HLA-DQB1 transcript levels. Flow cytometry with HLA-specific antibodies and pan-HLA antibodies (against DR/DQ/DP) also confirmed that the variant rs2647012 allele was associated with higher HLA-DQB1 protein levels. No significant changes were observed in HLA-DRB1, HLA-DQB1 or HLA-DQA1 transcript or protein levels when comparing rs10484561 wild type versus variant alleles. Conclusions: We did not detect significant differences in transcript or surface protein levels based on rs10484561 genotypes. These findings suggest that the increased risk of FL associated with rs10484561 that is in high LD with the HLA-DRB1*0101—DQA1*0101—DQB1*0501 extended haplotype is not due to transcriptional modulation, but may be due to effects on protein structure. On the other hand, the protective rs2647012 variant was associated with higher HLA-DQB1 mRNA and protein expression, suggesting that rs2647012 or a SNP in LD influences FL risk through effects on gene expression. We are currently testing the influence of additional FL risk alleles in the 6p21.3 region on HLA gene and protein expression, as well as investigating whether FL risk alleles alter HLA expression in other cell types. Disclosures: No relevant conflicts of interest to declare.

APA, Harvard, Vancouver, ISO, and other styles

40

Campagnuolo, Débora Greice, Rafael Formeton Cita, and Tatiana Elias Colombo. "Frequência dos alelos do sistema antígeno leucocitário humano em doadores e pacientes pré-transplante de medula óssea." Arquivos de Ciências da Saúde 25, no. 1 (April 23, 2018): 71. http://dx.doi.org/10.17696/2318-3691.25.1.2018.853.

Full text

Abstract:

Introdução: O estudo da frequência dos alelos detectados nos doadores e pacientes previamente selecionados para o transplante de medula óssea permite estimar as reais chances de um paciente em lista de espera encontrar um doador HLA idêntico não relacionado, além de facilitar e direcionar o planejamento do crescimento do Registro. Objetivo: Descrever e analisar a frequência dos alelos, genótipos e haplótipos HLA de classe I (HLA-A, -B e -C) e classe II (HLA-DRB1 e -DQB1) dos doadores e pacientes pré-transplante de medula óssea, genotipados no laboratório de Imunogenética-HLA do Hospital de Câncer de Barretos. Métodos: Um total de 98 amostras de doadores foram selecionadas com tipificações em alta resolução. As amostras foram tipificadas para os loci HLA-A, -B, -C, -DR e -DQ. Resultados: O predomínio da raça branca reflete a composição étnica da nossa região estudada. As doenças de base mais comuns que levaram o paciente ao transplante foram a leucemia aguda linfóide (34%) e mielóide (29,2%). Os grupos alélicos mais frequentes nos registros foram A*02, A*24, A*03, A*01, B*35, B*44, C*07, DQB1*03, DQB1*05, DQB1*06, DRB1*01 e DRB1*13. Conclusões: Os resultados encontrados reforçam a importância de conhecer o perfil demográfico e imunogenético das regiões do Brasil, contribuindo desta forma na redução do tempo de espera por um doador histocompatível.

APA, Harvard, Vancouver, ISO, and other styles

41

Al-Motwee, Saleh, Dunia Jawdat, Ghassan S. Jehani, Hanan Anazi, Abdullah Shubaili, Paul Sutton, Aytul F. Uyar, and Ali H. Hajeer. "Association of HLA-DRB1*15 and HLA-DQB1* 06 with SLE in Saudis." Annals of Saudi Medicine 33, no. 3 (May 2013): 229–34. http://dx.doi.org/10.5144/0256-4947.2013.229.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Todorova, K., G. Diederich, W. Ebell, J. S. Kühl, C. Schönemann, and H. Schulze. "Detection of a novel HLA-DQB1 allele, designatedDQB1*06:49." Tissue Antigens 80, no. 4 (July 9, 2012): 387–88. http://dx.doi.org/10.1111/j.1399-0039.2012.01927.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Han, Fang, Ling Lin, Barbara Schormair, Fabio Pizza, Giuseppe Plazzi, Hanna M. Ollila, Sona Nevsimalova, et al. "HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency." Sleep 37, no. 10 (October 1, 2014): 1601–8. http://dx.doi.org/10.5665/sleep.4066.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

Wang, X. J., H. Y. Sun, Q. H. Li, and K. Ru. "Identification of a novel HLA-DQB1 allele,HLA-DQB1*06:148, by sequence-based typing in a Chinese individual." Tissue Antigens 85, no. 6 (April 7, 2015): 514–15. http://dx.doi.org/10.1111/tan.12559.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

Ferre, April L., Peter W. Hunt, Delandy H. McConnell, Megan M. Morris, Juan C. Garcia, Richard B. Pollard, Hal F. Yee, Jeffrey N. Martin, Steven G. Deeks, and Barbara L. Shacklett. "HIV Controllers with HLA-DRB1*13 and HLA-DQB1*06 Alleles Have Strong, Polyfunctional Mucosal CD4+ T-Cell Responses." Journal of Virology 84, no. 21 (August 18, 2010): 11020–29. http://dx.doi.org/10.1128/jvi.00980-10.

Full text

Abstract:

ABSTRACT A small percentage of human immunodeficiency virus (HIV)-infected individuals, termed elite controllers, are able to spontaneously control HIV replication in blood. As the gastrointestinal mucosa is an important site of HIV transmission and replication as well as CD4+ T-cell depletion, it is important to understand the nature of the immune responses occurring in this compartment. Although the role of the HIV-specific CD8+ T-cell responses in mucosal tissues has been described, few studies have investigated the role of mucosal HIV-specific CD4+ T cells. In this study, we assessed HIV-specific CD4+ T-cell responses in the rectal mucosa of 28 “controllers” (viral load [VL] of <2,000 copies/ml), 14 “noncontrollers” (VL of >10,000 copies/ml), and 10 individuals on highly active antiretroviral therapy (HAART) (VL of <75 copies/ml). Controllers had higher-magnitude Gag-specific mucosal CD4+ T-cell responses than individuals on HAART (P < 0.05), as measured by their ability to produce gamma interferon (IFN-γ), interleukin-2 (IL-2), tumor necrosis factor alpha (TNF-α), and macrophage inflammatory protein 1β (MIP-1β). The frequency of polyfunctional mucosal CD4+ T cells was also higher in controllers than in noncontrollers or individuals on HAART (P < 0.05). Controllers with the strongest HIV-specific CD4+ T-cell responses possessed class II HLA alleles, HLA-DRB1*13 and/or HLA-DQB1*06, previously associated with a nonprogression phenotype. Strikingly, individuals with both HLA-DRB1*13 and HLA-DQB1*06 had highly polyfunctional mucosal CD4+ T cells compared to individuals with HLA-DQB1*06 alone or other class II alleles. The frequency of polyfunctional CD4+ T cells in rectal mucosa positively correlated with the magnitude of the mucosal CD8+ T-cell response (Spearman's r = 0.43, P = 0.005), suggesting that increased CD4+ T-cell “help” may be important in maintaining strong CD8+ T-cell responses in the gut of HIV controllers.

APA, Harvard, Vancouver, ISO, and other styles

46

Ananeva, Anastasiia, Nailia Osipova, Anna Andryushkina, and Elena Shagimardanova. "Identification of the novel HLA‐DQB1 , allele DQB1 *06:02:44 by next‐generation sequencing." HLA 97, no. 1 (October 8, 2020): 91–92. http://dx.doi.org/10.1111/tan.14081.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Hartmann, Felix J., Raphaël Bernard-Valnet, Clémence Quériault, Dunja Mrdjen, Lukas M. Weber, Edoardo Galli, Carsten Krieg, et al. "High-dimensional single-cell analysis reveals the immune signature of narcolepsy." Journal of Experimental Medicine 213, no. 12 (November 7, 2016): 2621–33. http://dx.doi.org/10.1084/jem.20160897.

Full text

Abstract:

Narcolepsy type 1 is a devastating neurological sleep disorder resulting from the destruction of orexin-producing neurons in the central nervous system (CNS). Despite its striking association with the HLA-DQB1*06:02 allele, the autoimmune etiology of narcolepsy has remained largely hypothetical. Here, we compared peripheral mononucleated cells from narcolepsy patients with HLA-DQB1*06:02-matched healthy controls using high-dimensional mass cytometry in combination with algorithm-guided data analysis. Narcolepsy patients displayed multifaceted immune activation in CD4+ and CD8+ T cells dominated by elevated levels of B cell–supporting cytokines. Additionally, T cells from narcolepsy patients showed increased production of the proinflammatory cytokines IL-2 and TNF. Although it remains to be established whether these changes are primary to an autoimmune process in narcolepsy or secondary to orexin deficiency, these findings are indicative of inflammatory processes in the pathogenesis of this enigmatic disease.

APA, Harvard, Vancouver, ISO, and other styles

48

Penova, Marina, Shuji Kawaguchi, Jun-ichirou Yasunaga, Takahisa Kawaguchi, Tomoo Sato, Meiko Takahashi, Masakazu Shimizu, et al. "Genome wide association study of HTLV-1–associated myelopathy/tropical spastic paraparesis in the Japanese population." Proceedings of the National Academy of Sciences 118, no. 11 (March 1, 2021): e2004199118. http://dx.doi.org/10.1073/pnas.2004199118.

Full text

Abstract:

HTLV-1–associated myelopathy (HAM/TSP) is a chronic and progressive inflammatory disease of the central nervous system. The aim of our study was to identify genetic determinants related to the onset of HAM/TSP in the Japanese population. We conducted a genome-wide association study comprising 753 HAM/TSP patients and 899 asymptomatic HTLV-1 carriers. We also performed comprehensive genotyping of HLA-A, -B, -C, -DPB1, -DQB1, and -DRB1 genes using next-generation sequencing technology for 651 HAM/TSP patients and 804 carriers. A strong association was observed in HLA class I (P = 1.54 × 10−9) and class II (P = 1.21 × 10−8) loci with HAM/TSP. Association analysis using HLA genotyping results showed that HLA-C*07:02 (P = 2.61 × 10−5), HLA-B*07:02 (P = 4.97 × 10−10), HLA-DRB1*01:01 (P = 1.15 × 10−9) and HLA-DQB1*05:01 (P = 2.30 × 10−9) were associated with disease risk, while HLA-B*40:06 (P = 3.03 × 10−5), HLA-DRB1*15:01 (P = 1.06 × 10−5) and HLA-DQB1*06:02 (P = 1.78 × 10−6) worked protectively. Logistic regression analysis identified amino acid position 7 in the G-BETA domain of HLA-DRB1 as strongly associated with HAM/TSP (P = 9.52 × 10−10); individuals homozygous for leucine had an associated increased risk of HAM/TSP (odds ratio, 9.57), and proline was protective (odds ratio, 0.65). Both associations were independent of the known risk associated with proviral load. DRB1-GB-7-Leu was not significantly associated with proviral load. We have identified DRB1-GB-7-Leu as a genetic risk factor for HAM/TSP development independent of proviral load. This suggests that the amino acid residue may serve as a specific marker to identify the risk of HAM/TSP even without knowledge of proviral load. In light of its allele frequency worldwide, this biomarker will likely prove useful in HTLV-1 endemic areas across the globe.

APA, Harvard, Vancouver, ISO, and other styles

49

Jia, Xiaoyuan, Tomoko Horinouchi, Yuki Hitomi, Akemi Shono, Seik-Soon Khor, Yosuke Omae, Kaname Kojima, et al. "Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population." Journal of the American Society of Nephrology 29, no. 8 (July 16, 2018): 2189–99. http://dx.doi.org/10.1681/asn.2017080859.

Full text

Abstract:

Background Nephrotic syndrome is the most common cause of chronic glomerular disease in children. Most of these patients develop steroid-sensitive nephrotic syndrome (SSNS), but the loci conferring susceptibility to childhood SSNS are mainly unknown.Methods We conducted a genome-wide association study (GWAS) in the Japanese population; 224 patients with childhood SSNS and 419 adult healthy controls were genotyped using the Affymetrix Japonica Array in the discovery stage. Imputation for six HLA genes (HLA-A, -C, -B, -DRB1, -DQB1, and -DPB1) was conducted on the basis of Japanese-specific references. We performed genotyping for HLA-DRB1/-DQB1 using a sequence-specific oligonucleotide-probing method on a Luminex platform. Whole-genome imputation was conducted using a phased reference panel of 2049 healthy Japanese individuals. Replication was performed in an independent Japanese sample set including 216 patients and 719 healthy controls. We genotyped candidate single-nucleotide polymorphisms using the DigiTag2 assay.Results The most significant association was detected in the HLA-DR/DQ region and replicated (rs4642516 [minor allele G], combined Pallelic=7.84×10−23; odds ratio [OR], 0.33; 95% confidence interval [95% CI], 0.26 to 0.41; rs3134996 [minor allele A], combined Pallelic=1.72×10−25; OR, 0.29; 95% CI, 0.23 to 0.37). HLA-DRB1*08:02 (Pc=1.82×10−9; OR, 2.62; 95% CI, 1.94 to 3.54) and HLA-DQB1*06:04 (Pc=2.09×10−12; OR, 0.10; 95% CI, 0.05 to 0.21) were considered primary HLA alleles associated with childhood SSNS. HLA-DRB1*08:02-DQB1*03:02 (Pc=7.01×10−11; OR, 3.60; 95% CI, 2.46 to 5.29) was identified as the most significant genetic susceptibility factor.Conclusions The most significant association with childhood SSNS was detected in the HLA-DR/DQ region. Further HLA allele/haplotype analyses should enhance our understanding of molecular mechanisms underlying SSNS.

APA, Harvard, Vancouver, ISO, and other styles

50

Loginova, Maria, Olga Makhova, and Igor Paramonov. "Characterization of two new HLA alleles, HLA‐A *02:942 and HLA‐DQB1 *06:02:47." HLA 97, no. 1 (September 22, 2020): 66–67. http://dx.doi.org/10.1111/tan.14070.

Full text

APA, Harvard, Vancouver, ISO, and other styles

Journal articles on the topic 'HLA-DQB1*06'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles