6.2-05 Rheumatoid-factor-negative polyarticular and pauciarticular juvenile arthritis are immunogenetically distinct

Fernandez-Vina, M.; Fink, Chester W.; Miller, Sheila; Šťastný, Peter

doi:10.1016/0198-8859(89)90693-9

Cited by 15 publications

(24 citation statements)

References 12 publications

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“…HLA testing was performed to determine if the patients with chromosome 22q11.2 deletion syndrome who developed polyarthritis expressed the HLA-DR, HLA-DQ, and HLA-DP specificities that confer a risk for polyarticular JRA: DR8, DR4, DRw52, DRB1*0801, DQA1*0401, DQB1*0402, DQB1*0602, DPBl*O301 (10,13,40). HLA typing results are reported in Table 2.…”

Section: Resultsmentioning

confidence: 99%

“…The association of chromosome 22q11.2 deletion syndrome with polyarthritis has been * Typing results are not presented as haplotypes. 1-Recognized polyarticular juvenile rheumatoid arthritis-associated allele (10)(11)(12)(13).…”

Section: Resultsmentioning

confidence: 99%

“…Although the etiology is not known, several studies have shown that certain class I1 major histocompatibility complex (MHC) alleles are associated with disease susceptibility and are specific for the individual subtype of JRA. For example, HLA-DRB1*0801, HLA-HLA-DQB1*0402, and HLA-DPBl"O201 predispose to pauciarticular JRA, and HLA-DPBl*0301, HLA-DQA1*0401, HLA-DQBl"0402, and HLA-DRB1*0801 predispose to polyarticular JRA (9)(10)(11)(12)(13). Various combinations of HLA types and epidemiologic features can confer a relative risk of up to 119, making HLA genes the most important identified genetic risk factor for JRA (9).…”

mentioning

confidence: 99%

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Juvenile rheumatoid arthritis‐like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

Sullivan

McDonald‐McGinn

Driscoll

et al. 1997

Arthritis & Rheumatism

116

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Objective. To investigate the association of polyarthritis and chromosome 22q11.2 deletions. Methods. Eighty patients with chromosome 22q11.2 deletion syndrome followed up at The Children's Hospital of Philadelphia were examined for evidence of arthropathy or arthritis. Patients with chromosome 22q11.2 deletion syndrome and polyarthritis underwent laboratory evaluations of immunologic function to determine the relationship of their immunodeficiency to the polyarthritis. Results. The prevalence of polyarthritis in patients with chromosome 22q11.2 deletion syndrome was markedly increased over the prevalence of polyarticular juvenile rheumatoid arthritis (JRA) in the general population. All 3 patients with polyarthritis had evidence of impaired T cell function. Two of the patients with polyarthritis also had IgA deficiency. Conclusion. The chromosome 22q11.2 deletion syndrome represents a primary T cell disorder which can be associated with a JRA‐like polyarthritis. All 3 patients with polyarthritis had evidence of more extensive immunoregulatory derangements than those typically seen in patients with chromosome 22q11.2 deletion, and these derangements may have predisposed to the development of polyarthritis.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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Juvenile rheumatoid arthritis‐like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

Sullivan

McDonald‐McGinn

Driscoll

et al. 1997

Arthritis & Rheumatism

116

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“…Interestingly, DPB1*0301 has also been associated with RF-negative adult onset RA. 22 While previous studies using different populations have found independent association of HLA-DPB1*0201 [5][6][7][8][9][10][11][12][13] with JIA, we only observed a marginally significant association (P c ¼ 0.05) in non-DRB1*JIASE patients with HLA-DPB1*0201(020102). This may indicate an independent effect of the DPB1*020102 allele in only a particular subset of our pauciarticular patients and/or, less likely, differences in the genetic background of the Finnish population and the other populations previously studied.…”

Section: Discussionmentioning

confidence: 50%

“…[5][6][7][8][9][10][11][12][13] However, only four studies have been published to date of DPB1 examination in polyarticular patients. 6,9,14,15 Although these findings suggest a role of HLA-DPB1 in JIA, the magnitude of an HLA-DPB1 effect and the difference in DPB1 susceptibility between pauciarticular and polyarticular patients remains unclear, particularly in light of the stronger DRB1 associations that have been described.…”

Section: Introductionmentioning

confidence: 99%

HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: more complexity within the MHC

Runstadler

Säilä²,

Savolainen³

et al. 2004

Genes Immun

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This study further defines genetic susceptibility to JIA in the region centromeric to HLA-DRB1. DNA from 234 Finnish JIA nuclear families and 639 elderly Finnish control individuals was genotyped for five functional SNPs within the TAP2 and TAP1 loci (B200 kb centromeric of HLA-DRB1). Subsets of the controls (186) and patients (145) that had been previously typed for HLA-DRB1 were also genotyped by sequence for the HLA-DPB1 locus. Case/control and transmission disequilibrium test (TDT) methods revealed an association with the DPB1*030101 allele for JIA (OR 2.3, 95% CI 1.5-3.5). Notably, a detailed haplotypic analysis of the TAP2/TAP1 loci and their interaction with the HLA-DPB1*030101 and DRB1*08 and *11 alleles showed a variety of over-represented and under-represented TAP2/TAP1 haplotypes not evident in the single marker analysis. The strongest effect was observed in the polyarticular RF negative JIA subgroup for the 2-2-1-2-1 TAP2/TAP1 haplotype (TAP2B and TAP1A alleles) which showed an independent effect from both DRB1*08 and *11 (Po0.000003) and DPB1*030101 (P ¼ 0.02). We have provided evidence that the extended haplotypes (including HLA-DRB1, TAP2/TAP1, and HLA-DPB1) of pauciarticular and polyarticular RF negative disease are distinct. This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.

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Juvenile rheumatoid arthritis as a complex genetic trait

Glass

Giannini

1999

Arthritis & Rheumatism

179

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6.2-05 Rheumatoid-factor-negative polyarticular and pauciarticular juvenile arthritis are immunogenetically distinct

Cited by 15 publications

References 12 publications

Juvenile rheumatoid arthritis‐like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

Juvenile rheumatoid arthritis‐like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: more complexity within the MHC

Juvenile rheumatoid arthritis as a complex genetic trait

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