Genes associated with rheumatoid arthritis and mild inflammatory arthritis. I. Major histocompatibility complex class I, II, and III allotypes.

Puttick, A H; Briggs, David; Welsh, Ken I.; Vaughan, R. W.; Williamson, Eilidh; Boyce, Michael; Jacoby, R K; Jones, Valerie E.

doi:10.1136/ard.49.4.219

Cited by 10 publications

(4 citation statements)

References 15 publications

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“…However, with followup it was clear that patients who studies (10)(11)(12)23,24). Two possible explanations for this finding are that the action of the locus occurs after the initiation of RA or that patients with mild or self-limiting RA have an entirely separate disease that is not associated with the MHC.…”

Section: Discussionmentioning

confidence: 94%

Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome

Gough

Faint

Salmon

et al. 1994

Arthritis & Rheumatism

175

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Objective. To test the hypothesis that genetic characterization of patients at the time they present with inflammatory arthritis can predict subsequent destructive disease.Methods. We evaluated 177 patients with early arthritis. Patients were serologically tested for rheumatoid factor (RF) and were DNA oligotyped for the presence of conserved base sequences in the third hypervariable region (HVR3) of the DRBl gene, previously shown to be associated with severe rheumatoid arthritis (RA). Homozygosity in the patient's genotype was confirmed usiiig restriction fragment length polymorphism analysis. The main outcome measure was radiologic erosions at 1 year.Results. At presentation, 120 patients fulfilled the American College of Rheumatology 1987 criteria for RA, 64% of whom possessed the conserved base sequences, compared with 45% of 347 healthy controls (P < 0.001) and with 56% of 57 patients with other inflammatory arthritis (P not significant). Within the RA population, the frequency of Dw4/Dw14 compound heterozygotes was disproportionately increased. The presence of either HVR3 or RF had a relative risk of 13.49 for erosions, with a sensitivity of 95% (specificity 39%); the presence of both HVR3 and RF had a relative risk of 8.13, with a specificity of 88% (sensitivity 53%).

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Section: Discussionmentioning

confidence: 94%

Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome

Gough

Faint

Salmon

et al. 1994

Arthritis & Rheumatism

175

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“…This has obvious relevance to SSc, in which male sex could be regarded as protective, and may also be relevant to rheumatic diseases in general, in which there is both a sex bias, and protection afforded by the MHC. In rheumatoid arthritis, for example, it has also been shown that the specific reduction in the frequency of DR2 is significant only among female patients (61).…”

Section: Discussionmentioning

confidence: 99%

A molecular and serologic analysis of the major histocompatibility complex and complement component c4 in systemic sclerosis

Briggs

Stephens

Vaughan

et al. 1993

Arthritis & Rheumatism

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Objective. To investigate the contributions of the major histocompatibility complex (MHC) and C4 alleles to systemic sclerosis (SSc), and to pulmonary fibrosis and autoantibody expression in SSc, by analysis at the DNA level.Methods. One hundred fifteen patients with SSc were tested serologically for alleles of the class I MHC loci, and were tested for class I1 alleles (DRB, DQA, and DPB) by a combination of restriction fragment length polymorphism (RFLP) analysis and oligonucleotide probes with polymerase chain reaction amplification. C4 was studied by protein phenotyping and RFLP analysis in 80 patients. Correlations were made between disease status, pulmonary fibrosis, and expression of anticentromere antibodies (ACA) and antScl-70.Results. The C4A-null phenotype was found to provide the strongest disease association factor of the Conclusion. Of all the potential markers of disease susceptibility analyzed, the C4A locus was the strongest. C4AQO and DQAZ are independent susceptibility factors for SSc. The development of pulmonary fibrosis in SSc patients can be predicted using combined MHC and autoantibody analysis. The MHC alleles associated with the expression of disease-specific autoantibodies are not markers for disease susceptibility. Scleroderma (systemic sclerosis; SSc) and related disorders comprise a spectrum of acquired diseases characterized by fibrosis and vasculopathy . The spectrum ranges from localized scleroderma (morphea), where the emphasis is on dermal fibrotic disease, to diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (1cSSc) ( l ) , in which, to varying degrees, both the fibrotic and vascular elements are present and internal organ involvement is common.SSc is not considered to be an inherited disease, but there is a genetic association with the major histocompatibility complex (MHC) (see below). The human MHC comprises a discontinuous set of loci determining cell surface glycoproteins, which are spe-

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“…Além disso, diferentes cepas secretam proteínas/enzimas que, além de inibir a ativação do complemento, inibem a quimiotaxia e ativação fagocitária induzida por produtos de ativação do complemento, como C5a e C3a (30) . As proteínas BF, C2 e C4 ocupam um papel essencial nas primeiras etapas da ativação do complemento e na subseqüente opsonização, transporte e solubilização de complexos imunes (8) . Sabe-se que diferentes alótipos de BF, C2 e C4 apresentam diferenças em suas atividades funcionais ou em seus níveis plasmáticos.…”

Section: Discussionunclassified

“…Além da influência familiar (2)(3)(4) , associações significantes têm sido encontradas em diferentes populações, especialmente com antígenos da classe II do complexo principal de histocompatibilidade (MHC) (5)(6)(7) . Vários estudos demonstram significante associação entre diferentes alótipos do complemento e doenças autoimunes e infecciosas, tais como artrite reumatóide, esclerose múl-tipla, lúpus eritematoso sistêmico, doença de Chagas e hanseníase (8)(9)(10)(11)(12) . Os componentes do complemento C2, fator B (BF) e C4 estão entre as proteínas codificadas pela região da classe III do MHC.…”

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Associação do alótipo raro C4A6 do sistema complemento com a doença cardíaca reumática

Messias-Reason¹,

Cavalcanti²,

Radominski³

2004

Rev. Bras. Reumatol.

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RESUMOObjetivo: determinar se os alótipos do Fator B (BF), C2 e C4 (C4A e C4B) do sistema complemento poderiam ser marcadores para a doença cardíaca reumática (DCR) na população brasileira. Métodos: foram estudados 49 pacientes com DCR crônica. Os controles incluíram 65 indivíduos saudáveis, não aparentados, pareados com a amostra dos pacientes de acordo com o sexo, idade e grupo racial. Os alótipos de BF, C2, C4A e C4B foram determinados por técnicas-padrão, incluindo Western blot para a determinação das variantes de C2 e C4, utilizando-se anticorpos monoclonais e policlonais. Resultados: este estudo demonstrou um significante aumento do alelo raro C4A*6 (p=0,003 RR=11,85) e diminuição de C4A*3 nos pacientes, quando comparados com os controles. Além disso, alelos nulos de C4 e raros de C4 e BF foram observados com maior freqüência nos pacientes. Conclusões: considerando-se que foram avaliados somente pacientes com DCR, mais estudos serão necessários para que se possa esclarecer se o alelo C4A6 pode ser um marcador da forma cardíaca ou da própria doença.

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Genes associated with rheumatoid arthritis and mild inflammatory arthritis. I. Major histocompatibility complex class I, II, and III allotypes.

Cited by 10 publications

References 15 publications

Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome

Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome

A molecular and serologic analysis of the major histocompatibility complex and complement component c4 in systemic sclerosis

Associação do alótipo raro C4A6 do sistema complemento com a doença cardíaca reumática

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