Comparative studies of the major histocompatibility complex in french canadian and non–french canadian caucasians with systemic lupus erythematosus

Goldstein, Rose; Sengar, D. P. S.

doi:10.1002/art.1780360813

Cited by 55 publications

(32 citation statements)

References 50 publications

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“…This could be due to the presence of genetic heterogeneity. 20,21,31,32 In this study, the C4A*Q0 allele was found in two out of the 130 control groups, while C4B*Q0 was present in two out of the 130 SLE patients. These results however, did not show any significant association to the occurrence of SLE disorder.…”

Section: Discussionmentioning

confidence: 76%

A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

Puah

Lh²,

Chew

et al. 2007

Lupus

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The aim of the present study was to investigate the association of C4 gene mutations with systemic lupus erythematosus, in 130 Malaysian SLE patients and 130 healthy controls. Generally, various PCR approaches were used to screen the mutations of the C4 genes, which included 2 bp (+TC) insertions at codon 1213 in exon 29, 1 bp deletions (-C) at codon 811 in exon 20, 1 bp (-C), 2 bp (-GT) deletions at codons 522 and 497 in exon 13 and null alleles. No mutations located at exons 13, 20 and 29 of the C4 gene, were detected amongst the patient and control samples in this study. C4A*Q0 was found in two out of the 130 control samples, while C4B*Q0 was present in two out of the 130 SLE patients. Overall, our results do not demonstrate a significant association to these known C4 mutations identified by previous studies, in the Malaysian scenario.

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Section: Discussionmentioning

confidence: 76%

A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

Puah

Lh²,

Chew

et al. 2007

Lupus

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“…The B8-DR3 haplotype, frequently detected in SLE and other autoimmune syndromes (42,43), was significantly increased in all patient groups. Although it was not associated with specific features of autoimmunity, there was a high frequency of this haplotype in the small number of anti-Roϩ patients.…”

Section: Discussionmentioning

confidence: 88%

Association of HLA alleles and clinical features in patients with synovitis of recent onset

El‐Gabalawy

Goldbach‐Mansky

Smith

et al. 1999

Arthritis & Rheumatism

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Objective. To determine how HLA alleles are associated with the clinical disease patterns of patients with synovitis of recent onset. Methods. The HLA alleles A, B, C, DR1, and DQ1 were determined in a cohort of 211 patients (mean age 42 years, 64% female, 79% white) with recent-onset synovitis in 1 or more peripheral joints. At a mean disease duration of 33 weeks, 98 patients (46%) met the American College of Rheumatology (ACR) criteria for rheumatoid arthritis (RA), 38 (18%) met the European Spondylarthropathy Study Group criteria for spondylarthropathy (SpA), and 75 (36%) were classified as having undifferentiated arthropathy (UA). Controls were racially matched healthy individuals (n 244). Results. Shared epitope (SE) alleles were significantly more common in rheumatoid factor-positive (RF) patients fulfilling the ACR RA criteria than in other patients with early arthritis (65% versus 35%; P < 0.001). In addition, the RA patients had by far the highest frequency of radiographic erosions (52% and 39% in RF and RF RA, respectively, versus 3% and 9% in SpA and UA patients, respectively; P < 0.0001). The presence of SE alleles was a particularly strong predictor of early erosions in the RF RA patients (odds ratio [OR] 6.8, 95% confidence interval [95% CI] 1.2-45). The presence of 2 SE alleles or an associated DQ1*0301 (DQ7) or DQ1*0302 (DQ8) allele appeared to modestly increase the risk of early erosions, although these DQ alleles were in strong linkage disequili-brium with DR1*0401, both in the patient and in the control populations. B27 was linked with the presence of SE alleles in the patients, including those patients fulfilling the RA criteria, but not in the controls (12% versus 3%; P < 0.001). Enthesitis was present in 23 (11%) of 211 patients, was highly associated with B27 (OR 4.2, 95% CI 1.5-11.5), and surprisingly, was not a feature specific only to the SpA group. The B8-DR3 haplotype was significantly increased in the patient subgroups compared with controls (17% versus 7%; P < 0.01), although the clinical significance of this association is unclear. Conclusion. This study of HLA associations in a diverse cohort of early synovitis patients emphasizes the complex degree of genetic interaction between alleles at several major histocompatibility complex loci, which regulates clinical phenotypes. In particular, SE and B27, while predisposing patients to characteristic clinical syndromes, had an unexpected degree of association in this cohort, perhaps explaining the overlap in clinical features in many patients. Synovitis in 1 or more peripheral joints is the presenting feature of several chronic inflammatory ar-thropathies. The clinical spectrum of rheumatoid arthritis (RA) and the seronegative spondylarthropathies (SpA), which are disorders presumably having distinct pathogenetic mechanisms, can be difficult to differentiate early in the disease course. Moreover, a large proportion of patients with synovitis of recent onset lack specific diagnostic features and are classified as having undifferentiated ...

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“…29,30 Our previous study comparing French Canadian and non-French Canadian Caucasians with SLE to healthy ethnically matched control subjects, demonstrated that the strongest association with disease susceptibility in the non-French Canadian population was the extended haplotype HLA-B8, DR3, Dw24, DQ2, C4A gene deletion. 31 In contrast, the C4A gene deletion was not increased above controls in French Canadians and when the deletion was present, it was not strongly associated with the above noted haplotype. The strongest association in the French subset was with HLA-DQ6 imparting a relative risk of 2.6.…”

Section: Introductionmentioning

confidence: 77%

Clinical correlates, serum autoantibodies and the role of the major histocompatibility complex in French Canadian and non-French Canadian Caucasians with SLE

Podrebarac

Boisert²,

Goldstein

1998

Lupus

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Comparative studies of the major histocompatibility complex in french canadian and non–french canadian caucasians with systemic lupus erythematosus

Cited by 55 publications

References 50 publications

A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

Association of HLA alleles and clinical features in patients with synovitis of recent onset

Clinical correlates, serum autoantibodies and the role of the major histocompatibility complex in French Canadian and non-French Canadian Caucasians with SLE

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