HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

Nepom, Barbara S.; Malhotra, Uma; Schwarz, David; Nettles, J W; Schaller, Jane G.; Concannon, Patrick

doi:10.1002/art.1780341009

Cited by 31 publications

(14 citation statements)

References 32 publications

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“…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).…”

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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%

mentioning

confidence: 99%

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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“…Nepom et al studied 42 patients with JIA and 41 controls and found that DR8 was associated with a higher aetiological fraction than DQ4, but the findings did not reach statistical significance. 8 However, in a similar study of a cohort of 43 DR8 positive patients with JIA and 24 controls van Kerckhove et al found the opposite, concluding that DQ4 is at least as likely a candidate for the primary HLA association in JIA. 9 Another approach used is to analyse sequences of HLA class II alleles associated with JIA.…”

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confidence: 95%

Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype

Smerdel

Płoski²,

Flatø³

et al. 2002

Annals of the Rheumatic Diseases

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Background: Juvenile idiopathic arthritis (JIA) is strongly associated with the DR8-DQ4 haplotype. The genes encoding DR8 and DQ4 are in strong linkage disequilibrium (LD) and occur together on the same HLA haplotype in almost all patients and controls. Because of the strong LD it is not clear whether DR8, DQ4, or both, are primarily associated with JIA. Objective: To unveil the primary association of JIA-that is, with DR8 or DQ4. Methods: DRB1, DQA1, and DQB1 alleles of 585 Norwegian and 47 Polish unrelated patients with JIA (categorised as pauciarticular and rheumatoid factor negative polyarticular JIA), and of 3155 Norwegian and 158 Polish unrelated controls, were typed using a polymerase chain reaction or oligonucleotide hybridisation and sequence-specific primers method. Results: Several haplotypes which encoded DR8 (that is, carried DRB1*08) and which did not encode DQ4 (that is, did not carry DQA1*0401) were found. Such haplotypes were found in three Norwegian patients and two controls (p=0.029). In the Polish population such haplotypes were found among four patients with JIA and two controls (p=0.025). No haplotypes which carried DQA1*0401 and DQB1*0402 in the absence of DRB1*08 were found, either among patients with JIA (Polish and Norwegian) or among the controls (Polish). Conclusion: On the DR8-DQ4 haplotype the DRB1*08 allele is primarily associated with JIA.

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“…также выявили сходство в первом гипервариабельном регионе DR5, DR6, DR8 алле лей. Предполагают, что этот регион является «час тичным эпитопом» и может иметь важное значение в антигенном распознавании и, соответственно, в развитии ЮРА [39].…”

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Immunogenetic features of juvenile rheumatoid arthritis

Zolobova¹,

Yasdovsky²,

Voronin³

et al. 2007

rsp

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HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

Cited by 31 publications

References 32 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)

Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype

Immunogenetic features of juvenile rheumatoid arthritis

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