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Luis Uscanga - One of the best experts on this subject based on the ideXlab platform.
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¿Es posible una mejor identificación de la enfermedad celiaca en sujetos mexicanos por medio de HLA-DQ8 que de HLA-DQ2?
Revista de Gastroenterología de México, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Resumen Introduccion y objetivos Existe una fuerte asociacion entre la enfermedad celiaca (EC) y el antigeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en America Latina indican que el HLA-DQ8 podria ser mas frecuente. En Mexico no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribucion de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y metodos Se llevo a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se busco la presencia de marcadores serologicos, histologicos y geneticos de la EC. Resultados Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 anos presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontro HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea cronica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron mas frecuentemente la combinacion de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones En sujetos mexicanos con EC la expresion de HLA-DQ8 fue mas frecuente que la de HLA-DQ2, lo cual indica que la distribucion de HLA podria ser similar a las descritas en otros paises de America Latina. Sin embargo, la naturaleza y el tamano de la muestra de este estudio no permiten hacer mas conclusiones.
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¿Es posible una mejor identificación de la enfermedad celiaca en sujetos mexicanos por medio de HLA-DQ8 que de HLA-DQ2?
Elsevier, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Resumen: Introducción y objetivos: Existe una fuerte asociación entre la enfermedad celiaca (EC) y el antígeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en América Latina indican que el HLA-DQ8 podría ser más frecuente. En México no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribución de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y métodos: Se llevó a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se buscó la presencia de marcadores serológicos, histológicos y genéticos de la EC. Resultados: Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 años presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontró HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea crónica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron más frecuentemente la combinación de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones: En sujetos mexicanos con EC la expresión de HLA-DQ8 fue más frecuente que la de HLA-DQ2, lo cual indica que la distribución de HLA podría ser similar a las descritas en otros países de América Latina. Sin embargo, la naturaleza y el tamaño de la muestra de este estudio no permiten hacer más conclusiones. Abstract: Introduction and aims: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. In Mexico, the frequency of those alleles has not been reported in subjects with CD. Therefore, the aim of the present study was to evaluate the distribution of HLA-DQ2 and HLA-DQ8 in Mexican individuals with CD. Material and methods: An exploratory study was conducted on a cohort of 49 subjects with chronic diarrhea. Autoantibodies for CD, duodenal atrophy, and HLA haplotypes were determined. Results: Thirty individuals had CD (23 women, mean age 54.2 ± 15.5 years), 24 (80%) of whom expressed HLA-DQ8, 15 (50%) expressed HLA-DQ2, and 11 (37%) presented with both alleles. However, neither the HLA-DQ2 nor the HLA-DQ8 allele was found in 5 (10%) individuals. In subjects with chronic diarrhea that did not have CD, 12 (63%) presented with HLA-DQ2, and 7 (37%) with HLA-DQ8. Individuals with CD expressed the combinations of the HLA-DQ8/DQ2 alleles (37 vs. 5%) and the HLA-DR4/DQ8 alleles (60 vs. 26%) more frequently than the subjects without CD. Conclusions: In Mexican subjects with CD, HLA-DQ8 distribution was more frequent than that of HLA-DQ2, indicating a possible similarity to the frequency reported in other Latin American countries. However, given the nature of the present study and its sample size, further conclusions could not be reached. Palabras clave: Enfermedad celiaca, HLA-DQ2, HLA-DQ8, Keywords: Celiac disease, HLA-DQ2, HLA-DQ
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Is celiac disease better identified through HLA-DQ8 than through HLA-DQ2 in Mexican subjects?
Elsevier, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Introduction and aims: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. In Mexico, the frequency of those alleles has not been reported in subjects with CD. Therefore, the aim of the present study was to evaluate the distribution of HLA-DQ2 and HLA-DQ8 in Mexican individuals with CD. Material and methods: An exploratory study was conducted on a cohort of 49 subjects with chronic diarrhea. Autoantibodies for CD, duodenal atrophy, and HLA haplotypes were determined. Results: Thirty individuals had CD (23 women, mean age 54.2 ± 15.5 years), 24 (80%) of whom expressed HLA-DQ8, 15 (50%) expressed HLA-DQ2, and 11 (37%) presented with both alleles. However, neither the HLA-DQ2 nor the HLA-DQ8 allele was found in 5 (10%) individuals. In subjects with chronic diarrhea that did not have CD, 12 (63%) presented with HLA-DQ2, and 7 (37%) with HLA-DQ8. Individuals with CD expressed the combinations of the HLA-DQ8/DQ2 alleles (37 vs. 5%) and the HLA-DR4/DQ8 alleles (60 vs. 26%) more frequently than the subjects without CD. Conclusions: In Mexican subjects with CD, HLA-DQ8 distribution was more frequent than that of HLA-DQ2, indicating a possible similarity to the frequency reported in other Latin American countries. However, given the nature of the present study and its sample size, further conclusions could not be reached. Resumen: Introducción y objetivos: Existe una fuerte asociación entre la enfermedad celiaca (EC) y el antígeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en América Latina indican que el HLA-DQ8 podría ser más frecuente. En México no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribución de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y métodos: Se llevó a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se buscó la presencia de marcadores serológicos, histológicos y genéticos de la EC. Resultados: Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 años presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontró HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea crónica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron más frecuentemente la combinación de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones: En sujetos mexicanos con EC la expresión de HLA-DQ8 fue más frecuente que la de HLA-DQ2, lo cual indica que la distribución de HLA podría ser similar a las descritas en otros países de América Latina. Sin embargo, la naturaleza y el tamaño de la muestra de este estudio no permiten hacer más conclusiones. Keywords: Celiac disease, HLA-DQ2, HLA-DQ8, Palabras clave: Enfermedad celiaca, HLA-DQ2, HLA-DQ
Mehmet Haberal - One of the best experts on this subject based on the ideXlab platform.
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panel reactive antibody positivity and associated hla antibodies in turkish end stage renal disease patients
Tissue Antigens, 2002Co-Authors: F N Ozdemir, M Turan, Siren Sezer, Z Arat, A Gulmus, E Kulah, Mehmet HaberalAbstract:Pre and postrenal transplantation panel reactive antibody (PRA) screening is associated with increased rates of hyperacute or acute-graft rejection and graft loss. It has been suggested that phenotypic HLA-antigens are involved in PRA sensitization. This study investigated the relationships between HLA-specific antibody frequencies and PRA sensitization in Turkish patients with end-stage renal disease (ESRD). Three hundred and forty patients on the renal transplantation waiting list participated. We determined the level of PRA sensitization and the candidates' class I and II HLA-antibody profile. Panel reactive antibody levels greater than 30% were accepted as positive. The frequencies of the different antibodies in the sensitized group were calculated. Twenty-four (7%) of the 340 patients showed PRA-ABC positivity and 34 (10%) showed DR positivity. Thirty-nine (11.5%) of the candidates were PRA-positive. The most frequent class I HLA-antibodies in this group were A2, A34, and B56, and the most frequent class II antibodies were DR1, DR7, DR10, DR11, DR14, DR52, DQ1, DQ4, DQ6, and DQ7. Analysis showed that the presence of each of these HLA class II antibodies was significantly correlated with PRA positivity. Apart from the presence of HLA-A2, A24, and DR11 antibodies, the HLA profile for the PRA-positive candidates differed from that of the general Turkish population. In conclusion, identification of the associated HLA-specific antibodies and correlation with the Turkish population HLA-antigen distribution will identify high-risk patients as candidates for transplantation.
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PANEL‐REACTIVE ANTIBODY POSITIVITY AND ASSOCIATED HLA‐ANTIBODIES IN TURKISH END‐STAGE RENAL DISEASE PATIENTS
Tissue Antigens, 2002Co-Authors: F N Ozdemir, M Turan, Siren Sezer, Z Arat, A Gulmus, E Kulah, Mehmet HaberalAbstract:Pre and postrenal transplantation panel reactive antibody (PRA) screening is associated with increased rates of hyperacute or acute-graft rejection and graft loss. It has been suggested that phenotypic HLA-antigens are involved in PRA sensitization. This study investigated the relationships between HLA-specific antibody frequencies and PRA sensitization in Turkish patients with end-stage renal disease (ESRD). Three hundred and forty patients on the renal transplantation waiting list participated. We determined the level of PRA sensitization and the candidates' class I and II HLA-antibody profile. Panel reactive antibody levels greater than 30% were accepted as positive. The frequencies of the different antibodies in the sensitized group were calculated. Twenty-four (7%) of the 340 patients showed PRA-ABC positivity and 34 (10%) showed DR positivity. Thirty-nine (11.5%) of the candidates were PRA-positive. The most frequent class I HLA-antibodies in this group were A2, A34, and B56, and the most frequent class II antibodies were DR1, DR7, DR10, DR11, DR14, DR52, DQ1, DQ4, DQ6, and DQ7. Analysis showed that the presence of each of these HLA class II antibodies was significantly correlated with PRA positivity. Apart from the presence of HLA-A2, A24, and DR11 antibodies, the HLA profile for the PRA-positive candidates differed from that of the general Turkish population. In conclusion, identification of the associated HLA-specific antibodies and correlation with the Turkish population HLA-antigen distribution will identify high-risk patients as candidates for transplantation.
Frits Koning - One of the best experts on this subject based on the ideXlab platform.
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Pathophysiology of celiac disease.
Journal of Pediatric Gastroenterology and Nutrition, 2014Co-Authors: Frits KoningAbstract:Celiac disease (CD) is strongly associated with HLA-DQ2 and HLA-DQ8, HLA-class II molecules that present antigen-derived peptides to CD4 T cells. Indeed, proinflammatory CD4 T cells specific for gluten-derived peptides bound to HLA-DQ2 or HLA-DQ8 are present in the lamina propria of patients, and not found in nonceliac controls. While gluten peptides bind poorly to HLA-DQ2/8, modification by tissue tranglutaminase converts the neutral amino acid glutamine into glutamic acid, introducing a negative charge that allows high affinity binding. Thus, the association between CD and HLA-DQ2/8 is well understood. What is less clear is why only a small minority of HLA-DQ2/8 positive individuals develops CD, why disease can develop at any stage in life and present with highly variable symptoms. I discuss this in the framework of the multiple hit model: next to genetic predisposition, multiple other factors-some extrinsic, some intrinsic-can favour or protect from disease development.
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PS13 - 66. The type 1 diabetes associated HLA-DQ8-transdimer accommodates a unique islet peptide repertoire
Nederlands Tijdschrift voor Diabetologie, 2011Co-Authors: Menno Van Lummel, Peter A. Van Veelen, Jan W. Drijfhout, Arnaud Zaldumbide, George M. C. Janssen, Antonis K. Moustakas, Bart O. Roep, George Papadopoulos, Frits KoningAbstract:In spite of the promise of decades of genetic research and the recently hyped expectations following genome-wide association studies in T1D, it remains unknown why HLADQ2 and HLA-DQ8 are strongly predisposing haplotypes for T1D. We understand even less why HLA-DQ2/8 heterozygous individuals have a synergistically increased risk compared to HLA-DQ2 or HLA-DQ8 homozygote subjects that may result from the presence of a transdimer formed between the α-chain of HLA-DQ2 (DQA1*0501) and the β-chain of HLA-DQ8 (DQB1*0302) that may bind and present unique autoantigen derived diabetogenic epitopes.
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Celiac disease: how complicated can it get?
Immunogenetics, 2010Co-Authors: Jennifer May-ling Tjon, Jeroen Bergen, Frits KoningAbstract:In the small intestine of celiac disease patients, dietary wheat gluten and similar proteins in barley and rye trigger an inflammatory response. While strict adherence to a gluten-free diet induces full recovery in most patients, a small percentage of patients fail to recover. In a subset of these refractory celiac disease patients, an (aberrant) oligoclonal intraepithelial lymphocyte population develops into overt lymphoma. Celiac disease is strongly associated with HLA-DQ2 and/or HLA-DQ8, as both genotypes predispose for disease development. This association can be explained by the fact that gluten peptides can be presented in HLA-DQ2 and HLA-DQ8 molecules on antigen presenting cells. Gluten-specific CD4^+ T cells in the lamina propria respond to these peptides, and this likely enhances cytotoxicity of intraepithelial lymphocytes against the intestinal epithelium. We propose a threshold model for the development of celiac disease, in which the efficiency of gluten presentation to CD4^+ T cells determines the likelihood of developing celiac disease and its complications. Key factors that influence the efficiency of gluten presentation include: (1) the level of gluten intake, (2) the enzyme tissue transglutaminase 2 which modifies gluten into high affinity binding peptides for HLA-DQ2 and HLA-DQ8, (3) the HLA-DQ type, as HLA-DQ2 binds a wider range of gluten peptides than HLA-DQ8, (4) the gene dose of HLA-DQ2 and HLA-DQ8, and finally,(5) additional genetic polymorphisms that may influence T cell reactivity. This threshold model might also help to understand the development of refractory celiac disease and lymphoma.
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Design of new high-affinity peptide ligands for human leukocyte antigen-DQ2 using a positional scanning peptide library.
Human Immunology, 2010Co-Authors: Ulrike Jüse, Frits Koning, Ludvig M Sollid, Yvonne Van De Wal, Burkhard FleckensteinAbstract:Human leukocyte antigen (HLA)-DQ2 (DQA1 x 0501/DQB1 x 0201) is associated with several immune disorders, including celiac disease, which is caused by an inappropriate T-cell response to gluten. Interference with peptide presentation by HLA-DQ2, for example, by the use of peptide blockers, is a possible treatment strategy for such HLA-associated disorders. A successful implementation of this strategy will depend on the identification of ligands that bind much better to HLA-DQ2 than the disease related epitopes. We have used a positional scanning nonapeptide library to determine the optimal amino acids for each position of the HLA-DQ2 binding frame. By combining the optimal residues in each position, we were able to design high affinity binders to HLA-DQ2. Interestingly, the decapeptide with highest affinity was composed of the most favorable residues in each position. This sequence bound 50-fold better than the immunodominant gluten epitope DQ2-alpha-I-gliadin, which makes it an interesting lead compound for the development of blockers. For some natural HLA-DQ2 ligands, the correlation between measured and predicted affinities was poorer, but notably these peptides did not have optimal amino acids at all positions. Our approach represents a straightforward strategy for developing high-affinity binders to HLA class II molecules.
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Dominance of an alternative CLIP sequence in the celiac disease associated HLA-DQ2 molecule.
Immunogenetics, 2008Co-Authors: Martina Wiesner, Peter A. Van Veelen, Jan W. Drijfhout, George K. Papadopoulos, Dariusz Stepniak, Antonis K. Moustakis, Frits KoningAbstract:During assembly, HLA class II molecules associate with the invariant chain. As the result, the peptide-binding groove is occupied by an invariant chain peptide termed CLIP (class-II-associated invariant chain peptide; sequence MRMATPLLM). By mass spectrometry, we have now characterized peptides that are naturally present in HLA-DQ2. This analysis revealed that 22 variants of Ii-derived peptides are associated with HLA-DQ2. Strikingly, the large majority of those do not contain the conventional CLIP sequence MRMATPLLM, but instead a peptide that partially overlaps with CLIP, sequence TPLLMQALPM. Peptide binding studies indicate that this alternative CLIP peptide has superior HLA-DQ2 binding properties compared to the conventional CLIP and that the minimal nine-amino-acid binding core consists of the sequence PLLMQALPM, findings that could be corroborated by molecular simulation. The alternative CLIP peptide was also found to be present in HLA-DQ2 molecules isolated from human thymus. Moreover, the alternative CLIP peptide was also found in association with HLA-DQ8. Together, these results indicate that HLA-DQ2 and HLA-DQ8 associate with an alternative CLIP sequence, a property that may relate to the strong association between HLA-DQ molecules and human autoimmune diseases.
E. Cerda-contreras - One of the best experts on this subject based on the ideXlab platform.
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¿Es posible una mejor identificación de la enfermedad celiaca en sujetos mexicanos por medio de HLA-DQ8 que de HLA-DQ2?
Revista de Gastroenterología de México, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Resumen Introduccion y objetivos Existe una fuerte asociacion entre la enfermedad celiaca (EC) y el antigeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en America Latina indican que el HLA-DQ8 podria ser mas frecuente. En Mexico no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribucion de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y metodos Se llevo a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se busco la presencia de marcadores serologicos, histologicos y geneticos de la EC. Resultados Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 anos presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontro HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea cronica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron mas frecuentemente la combinacion de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones En sujetos mexicanos con EC la expresion de HLA-DQ8 fue mas frecuente que la de HLA-DQ2, lo cual indica que la distribucion de HLA podria ser similar a las descritas en otros paises de America Latina. Sin embargo, la naturaleza y el tamano de la muestra de este estudio no permiten hacer mas conclusiones.
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¿Es posible una mejor identificación de la enfermedad celiaca en sujetos mexicanos por medio de HLA-DQ8 que de HLA-DQ2?
Elsevier, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Resumen: Introducción y objetivos: Existe una fuerte asociación entre la enfermedad celiaca (EC) y el antígeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en América Latina indican que el HLA-DQ8 podría ser más frecuente. En México no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribución de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y métodos: Se llevó a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se buscó la presencia de marcadores serológicos, histológicos y genéticos de la EC. Resultados: Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 años presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontró HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea crónica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron más frecuentemente la combinación de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones: En sujetos mexicanos con EC la expresión de HLA-DQ8 fue más frecuente que la de HLA-DQ2, lo cual indica que la distribución de HLA podría ser similar a las descritas en otros países de América Latina. Sin embargo, la naturaleza y el tamaño de la muestra de este estudio no permiten hacer más conclusiones. Abstract: Introduction and aims: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. In Mexico, the frequency of those alleles has not been reported in subjects with CD. Therefore, the aim of the present study was to evaluate the distribution of HLA-DQ2 and HLA-DQ8 in Mexican individuals with CD. Material and methods: An exploratory study was conducted on a cohort of 49 subjects with chronic diarrhea. Autoantibodies for CD, duodenal atrophy, and HLA haplotypes were determined. Results: Thirty individuals had CD (23 women, mean age 54.2 ± 15.5 years), 24 (80%) of whom expressed HLA-DQ8, 15 (50%) expressed HLA-DQ2, and 11 (37%) presented with both alleles. However, neither the HLA-DQ2 nor the HLA-DQ8 allele was found in 5 (10%) individuals. In subjects with chronic diarrhea that did not have CD, 12 (63%) presented with HLA-DQ2, and 7 (37%) with HLA-DQ8. Individuals with CD expressed the combinations of the HLA-DQ8/DQ2 alleles (37 vs. 5%) and the HLA-DR4/DQ8 alleles (60 vs. 26%) more frequently than the subjects without CD. Conclusions: In Mexican subjects with CD, HLA-DQ8 distribution was more frequent than that of HLA-DQ2, indicating a possible similarity to the frequency reported in other Latin American countries. However, given the nature of the present study and its sample size, further conclusions could not be reached. Palabras clave: Enfermedad celiaca, HLA-DQ2, HLA-DQ8, Keywords: Celiac disease, HLA-DQ2, HLA-DQ
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Is celiac disease better identified through HLA-DQ8 than through HLA-DQ2 in Mexican subjects?
Elsevier, 2018Co-Authors: E. Cerda-contreras, K.l. Ramírez-cervantes, J. Granados, L. Mena, C. Núñez-Álvarez, Luis UscangaAbstract:Introduction and aims: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. In Mexico, the frequency of those alleles has not been reported in subjects with CD. Therefore, the aim of the present study was to evaluate the distribution of HLA-DQ2 and HLA-DQ8 in Mexican individuals with CD. Material and methods: An exploratory study was conducted on a cohort of 49 subjects with chronic diarrhea. Autoantibodies for CD, duodenal atrophy, and HLA haplotypes were determined. Results: Thirty individuals had CD (23 women, mean age 54.2 ± 15.5 years), 24 (80%) of whom expressed HLA-DQ8, 15 (50%) expressed HLA-DQ2, and 11 (37%) presented with both alleles. However, neither the HLA-DQ2 nor the HLA-DQ8 allele was found in 5 (10%) individuals. In subjects with chronic diarrhea that did not have CD, 12 (63%) presented with HLA-DQ2, and 7 (37%) with HLA-DQ8. Individuals with CD expressed the combinations of the HLA-DQ8/DQ2 alleles (37 vs. 5%) and the HLA-DR4/DQ8 alleles (60 vs. 26%) more frequently than the subjects without CD. Conclusions: In Mexican subjects with CD, HLA-DQ8 distribution was more frequent than that of HLA-DQ2, indicating a possible similarity to the frequency reported in other Latin American countries. However, given the nature of the present study and its sample size, further conclusions could not be reached. Resumen: Introducción y objetivos: Existe una fuerte asociación entre la enfermedad celiaca (EC) y el antígeno leucocitario humano (HLA). En Europa predomina el alelo HLA-DQ2; sin embargo, estudios en América Latina indican que el HLA-DQ8 podría ser más frecuente. En México no se ha reportado la frecuencia de estos alelos en sujetos con EC. Por lo tanto, el objetivo de nuestro estudio fue determinar la distribución de HLA-DQ2 y HLA-DQ8 en sujetos mexicanos con EC. Material y métodos: Se llevó a cabo un estudio exploratorio con una cohorte de 49 individuos, en quienes se buscó la presencia de marcadores serológicos, histológicos y genéticos de la EC. Resultados: Treinta sujetos (23 mujeres) con una edad promedio de 54.2 ± 15.5 años presentaron EC; 24 (80%) de ellos expresaron HLA-DQ8 y 15 (50%) HLA-DQ2; 11 (37%) presentaron ambos alelos; sin embargo, en 5 (10%) individuos no se encontró HLA-DQ2 ni HLA-DQ8. Entre los sujetos con diarrea crónica que no tuvieron EC, 12 (63%) presentaron HLA-DQ2 y 7 (37%) HLA-DQ8. Los sujetos con EC expresaron más frecuentemente la combinación de HLA-DQ8/DQ2 (37% vs. 5%) y los alelos HLA-DR4/DQ8 (60% vs. 26%). Conclusiones: En sujetos mexicanos con EC la expresión de HLA-DQ8 fue más frecuente que la de HLA-DQ2, lo cual indica que la distribución de HLA podría ser similar a las descritas en otros países de América Latina. Sin embargo, la naturaleza y el tamaño de la muestra de este estudio no permiten hacer más conclusiones. Keywords: Celiac disease, HLA-DQ2, HLA-DQ8, Palabras clave: Enfermedad celiaca, HLA-DQ2, HLA-DQ
Jingxiang Zhong - One of the best experts on this subject based on the ideXlab platform.
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association of human leukocyte antigen hla dq and hla dqa1 dqb1 alleles with vogt koyanagi harada disease a systematic review and meta analysis
Medicine, 2018Co-Authors: Tuo Deng, Jingxiang ZhongAbstract:OBJECTIVE: The aim of this study was to evaluate the association of human leukocyte antigen (HLA)-DQ and HLA-DQA1/DQB1 alleles with Vogt-Koyanagi-Harada (VKH), providing further evidences on the genetic background of this disease. METHODS: A comprehensive literature search was conducted on the relationship of HLA-DQ and/or HLA-DQA1/DQB1 alleles with VKH through PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, VIP, and databases for grey literature. The last search was in October 2017. Pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated from extracted data to access the strength of the association between a genotype and VKH. RESULTS: HLA-DQ4 was confirmed to increase the risk of VKH significantly (OR = 4.63, 95% CI: 1.74-12.31, P = .002), while HLA-DQ1 seemed to reduce VKH occurrence with OR = 0.32 (95% CI: 0.22-0.47, P < .00001). HLA-DQA1*0301-(OR = 4.52, 95% CI: 1.42-14.35, P = .01) and HLA-DQB1*0401-(OR = 23.12, 95% CI: 11.54-46.31, P < .00001) positive patients probably had a rising tendency to suffer from VKH. Alleles including HLA-DQA1*0103, 0401, 0501 and HLA-DQB1*0301, 0402, 0601, 0603 were significant protective genetic factors. CONCLUSION: We concluded that HLA-DQ4 carriers had a higher risk of VKH and HLA-DQ1 seemed to be protective. People with positive HLA-DQA1*0301 and HLA-DQB1*0401 demonstrated to be more susceptible to VKH. HLA-DQA1*0103, 0401, 0501 and HLA-DQB1*0301, 0402, 0601, 0603 could be potential protectors.
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Association of human leukocyte antigen (HLA)-DQ and HLA-DQA1/DQB1 alleles with Vogt–Koyanagi–Harada disease: A systematic review and meta-analysis
Medicine, 2018Co-Authors: Bing Liu, Tuo Deng, Linxin Zhu, Jingxiang ZhongAbstract:OBJECTIVE The aim of this study was to evaluate the association of human leukocyte antigen (HLA)-DQ and HLA-DQA1/DQB1 alleles with Vogt-Koyanagi-Harada (VKH), providing further evidences on the genetic background of this disease. METHODS A comprehensive literature search was conducted on the relationship of HLA-DQ and/or HLA-DQA1/DQB1 alleles with VKH through PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, VIP, and databases for grey literature. The last search was in October 2017. Pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated from extracted data to access the strength of the association between a genotype and VKH. RESULTS HLA-DQ4 was confirmed to increase the risk of VKH significantly (OR = 4.63, 95% CI: 1.74-12.31, P = .002), while HLA-DQ1 seemed to reduce VKH occurrence with OR = 0.32 (95% CI: 0.22-0.47, P