HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos

Garavito, Gloria; Yunis, Edmond J.; Egea, Eduardo; Ramírez, Luis Alberto; Malagón, Clara; Iglesias, Antonio; Cruz, Oscar F. De La; Uribe, Óscar Osío; Navarro, Édgar; Martı́nez, Paz; Jaraquemada, Dolores

doi:10.1016/j.humimm.2004.01.016

Cited by 24 publications

(10 citation statements)

References 23 publications

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“…Comi et al (1999) analyzed familial clustering of autoimmune disorders in autism (using families of 61 autistic patients and 46 controls), finding that across seven such conditions, only combined adult and juvenile rheumatoid arthritis exhibited a significant difference between autism (46% of family members) and controls (26%) (odds ratio 2.4, P < 0.05). Juvenile rheumatoid arthritis represents a heterogeneous set of rheumatoid conditions showing partial overlap with adult rheumatoid arthritis with regard to the role of DRB1*04 (Garavito et al 2004). The difference between autism (39%) and controls (24%) for adult rheumatoid arthritis considered separately was nonsignificant (odds ratio 2.1, P = 0.095).…”

Section: Resultsmentioning

confidence: 99%

Comparative immunogenetics of autism and schizophrenia

Crespi

Thiselton

2011

Genes, Brain and Behavior

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Autism and schizophrenia are highly heritable neurodevelopmental disorders, each mediated by a diverse suite of genetic and environmental risk factors. Comorbidity and familial aggregation of such neurodevelopmental disorders with other disease-related conditions can provide important insights into their etiology. Epidemiological studies have documented reduced rates of rheumatoid arthritis, a systemic autoimmune condition, in schizophrenia, and recent work has shown increased rates of rheumatoid arthritis in first-degree relatives of autistic individuals, especially mothers. Advances in understanding the genetic basis of rheumatoid arthritis have shown that much of the genetic liability to this condition is due to risk and protective alleles at the HLA DRB1 locus. These data allow robust testing of the hypotheses that allelic variation at DRB1 pleiotropically modulates risk of rheumatoid arthritis, autism and schizophrenia. Systematic review of the literature indicates that reported associations of DRB1 variants with these three conditions are congruent with a pleiotropic model: DRB1*04 alleles have been associated with increased risk of rheumatoid arthritis and autism but decreased risk of schizophrenia, and DRB1*13 alleles have been associated with protection from rheumatoid arthritis and autism but higher risk of schizophrenia. These convergent findings from genetics and epidemiology imply that a subset of autism and schizophrenia cases may be underlain by genetically based neuroimmune alterations, and that analyses of the causes of risk and protective effects from DRB1 variants may provide new approaches to therapy.

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Section: Resultsmentioning

confidence: 99%

Comparative immunogenetics of autism and schizophrenia

Crespi

Thiselton

2011

Genes, Brain and Behavior

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“…Evidence suggests that different alleles confer susceptibility in different ethnic groups, as is the case for other MHC-associated diseases. (38–40) A caveat of interpreting genetic studies that use pre-ILAR classification criteria is that the patient groups are possibly heterogeneous; for example, the pauciarticular subtype could include HLA-B27 + cases. (4)…”

Section: Pathogenesismentioning

confidence: 99%

Oligoarticular and polyarticular JIA: epidemiology and pathogenesis

et al. 2009

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Summary Juvenile idiopathic arthritis (JIA) refers to a group of chronic childhood arthropathies, currently classified into subtypes primarily on the basis of clinical features. Research has focused on the hypothesis that these subtypes arise through distinct etiologic pathways. In this Review, we discuss four subtypes of JIA: persistent oligoarticular, extended oligoarticular, rheumatoid-factor positive polyarticular and rheumatoid-factor-negative polyarticular. These subtypes differ in prevalence between ethnic groups and are associated with different HLA alleles. Non-HLA genetic risk factors have also been identified, some of which reveal further molecular differences between these subtypes, while others suggest mechanistic overlap. Investigations of immunophenotypes also provide insights into subtype differences: adaptive immunity appears to have a prominent role in both polyarticular and oligoarticular JIA, and the more-limited arthritis observed in persistent oligoarticular JIA as compared with extended oligoarticular JIA may reflect more-potent immunoregulatory T-cell activity in the former. Tumor necrosis factor seems to be a key mediator of both polyarticular and oligoarticular JIA, especially in the extended oligoarticular subtype, although elevated levels of other cytokines also are observed. Limited data on monocytes, dendritic cells, B cells, natural killer T cells, and neutrophils suggest that the contributions of these cells differ across subtypes of JIA. Within each subtype, however, common pathways appear to drive joint damage.

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“…El HLA ha sido, a su vez, relacionado con enfermedades autoinmunitarias e infecciosas; las más importantes son: dengue [11], artritis [12,13], lupus eritematoso sistémico [14], HTLV-II [15] y tuberculosis [16], entre otras, debido a la predisposición y asociación funcional de algunos alelos con la mayor o menor respuesta autoinmunitaria o antiinfecciosa.…”

Section: Introductionunclassified

Bajo polimorfismo en el sistema de antígenos de leucocitos humanos en población mestiza colombiana

Ávila-Portillo

Carmona

Franco³

et al. 2010

Univ. Med.

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Objetivo. Este trabajo tiene como objetivo describir la frecuencia de alelos y de haplotipos de antígenos HLA de clases I y II en población mestiza colombiana.Metodología. Se estudiaron 197 individuos colombianos no emparentados y 157 individuos emparentados que conformaban 53 familias, provenientes de diferentes regiones del país, remitidos para estudios de HLA de clases I y II por el método PCR-SSP a los laboratorios de inmunología del Hospital Militar Central de Bogotá y al Instituto de Referencia Andino.Resultados. El haplotipo HLA-A*24 B*35 DR*04 fue el más frecuente en la población estudiada, lo cual concuerda con otros estudios de mestizos colombianos.Conclusiones. El desequilibrio de Hardy-Weinberg hallado en la población analizada en el presente estudio, debe alertar sobre una eventual reducción en el repertorio de respuesta inmunitaria en los colombianos, lo cual podría ser el origen de una consecuente fragilidad de la población frente a nuevas infecciones que podrían convertirse en epidemias.

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HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos

Cited by 24 publications

References 23 publications

Comparative immunogenetics of autism and schizophrenia

Comparative immunogenetics of autism and schizophrenia

Oligoarticular and polyarticular JIA: epidemiology and pathogenesis

Bajo polimorfismo en el sistema de antígenos de leucocitos humanos en población mestiza colombiana

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