Differences in HLA antigens between patients with mixed connective tissue disease and systemic lupus erythematosus.

Ruuska, P; Hämeenkorpi, R; Forsberg, S; Julkunen, Heikki; Mäkitalo, R; Ilonen, Jorma; Tiilikainen, A

doi:10.1136/ard.51.1.52

Cited by 34 publications

(9 citation statements)

References 25 publications

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“…Serologically defined DR4 was reported to be associated with anti-U1 RNP antibody in Caucasians from various origins (12)(13)(14)(15)(16), but we did not detect a DR4 association in Japanese, as described in a previous serologic analysis (17). If an ANA and HLA association is postulated to exist worldwide among many ethnic groups, this discrepancy could be explained by a different distribution of HLA class I1 alleles.…”

Section: Discussioncontrasting

confidence: 46%

“…These observations indicate that patients with anti-U1 RNP antibody are heterogeneous, both clinically and serologically. Several studies of immunogenetic correlations with anti-U 1 RNP antibody employing serologic HLA typing have shown an increased frequency of DR4 in white patients (12)(13)(14)(15)(16) and of DQ3 in Japanese patients (17), but some investigators failed to detect any associations (1 8,19). Recent molecular immunogenetic analysis has revealed an increased frequency of one of the DQ3 subantigens, DQ8 (DQB1*0302), in white patients with S L E and anti-U1 RNP antibody, as compared with race-matched healthy controls (20).…”

Section: Discussionmentioning

confidence: 99%

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Major histocompatibility complex class ii gene associations with anti–u1 small nuclear ribonucleoprotein antibody relationship to immunoreactivity with individual constituent proteins

Kuwana

Okano

Kaburaki

et al. 1995

Arthritis & Rheumatism

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Objective. To better define immunogenetic associations with the anti–U1 ribonucleoprotein (U1 RNP) autoantibody response. Methods. HLA class II alleles were determined by genotyping in 49 Japanese rheumatic disease patients with anti–U1 RNP antibody and 43 race‐matched healthy controls. Immunoreactivities to U1 RNP constituent proteins (70K, A, B/B′, and C) were detected by immunoblots using purified HeLa cell Sm antigen, and antibody titer was determined by passive hemagglutination assay. Results. DQB1*0302 was significantly more frequent in anti–U1 RNP–positive patients than in controls (43% versus 14%; odds ratio [OR] = 4.6, corrected P = 0.03). All anti–U1 RNP–positive patients had either a DQB1*0601, *0602, *0301, *0302, or *0303 allele, which share tyrosine at position 30, and the amino acid sequence Thr, Arg, Ala, Glu, Leu, Asp, and Thr at positions 71–77 in the DQB1 ß1 domain. In contrast, one of these alleles was found in 81% of the controls (OR = 24, P = 0.002). In addition, anti–U1 RNP antibody was associated with unique DQB*0302; DRB1*0401 haplotype. Anti‐70K reactivity and antibody titer were positively associated with a basic amino acid residue, arginine or histidine, at position 13 (DR2 or DR4) and were negatively associated with the amino acid sequence Ile, Leu, Glu, and Asp at positions 67–70, which was present in some of the DR5‐, DR6‐, and DR8‐associated alleles, in the DRB1 ß1 domain. Anti‐C reactivity was strongly associated with DR2, particularly with DRB1*1502. Conclusion. The several shared epitopes located on HLA–DRB1 and DQB1 genes control the anti–U1 RNP autoantibody response.

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Section: Discussioncontrasting

confidence: 46%

Section: Discussionmentioning

confidence: 99%

Major histocompatibility complex class ii gene associations with anti–u1 small nuclear ribonucleoprotein antibody relationship to immunoreactivity with individual constituent proteins

Kuwana

Okano

Kaburaki

et al. 1995

Arthritis & Rheumatism

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“…A cornerstone in the advocacy of the existence of "MCTD" is the association between antibody production and HLA haplotypes. Different studies have demonstrated an association between the presence of anti-U1RNP antibody and an HLA-DR4-specific haplotype [20][21][22]34]. Genth et al [23] studied 35 patients with anti-U1RNPpositive ARD, with a mean disease duration of 6.3 years.…”

Section: Immunologic and Genetic Featuresmentioning

confidence: 99%

“…This is due to an apparently similar clinical picture in some anti-RNP-positive patients with overlapping features of ARD, a tendency to the insidious development of PAH (pulmonary arterial hypertension) and ILD (interstitial lung disease), and relatively uncommon renal or neurological involvement. A genetic association between HLA haplotype and anti-U1RNP antibodies was discovered, which some have interpreted as supporting the concept of MCTD [20][21][22]. However, other studies demonstrated that this linkage did not correlate with clinical disease expression, merely with antibody production [23,24].…”

Section: Introduction: a Historical Perspectivementioning

confidence: 99%

“Mixed connective tissue disease”: a condition in search of an identity

Alves

Isenberg

2020

Clin Exp Med

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Mixed connective tissue disease was first described as a new autoimmune rheumatic disease in 1972 based on the claim of a distinct clinical picture associated with anti-RNP antibody positivity. Subsequently, this new entity has divided opinions in the rheumatology community. We have reviewed recent cohort studies with more than 100 patients, comparing the clinical and immunological features, treatment, prognosis and evolution to well-defined autoimmune rheumatic diseases. We also reviewed clinical features of undifferentiated autoimmune rheumatic diseases based on the most recent studies. After gathering and reviewing these data, we discuss whether the designation "mixed connective tissue disease" should be maintained.

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“…On the other hand, several recent reports showed that MCTDwas a distinct disease entity (3)(4)(5). Regarding a genetic markers, MCTD-associated HLAis distinct from the SLE-and SSc-associated HLAin Japanese and Caucasian patients (3,6,7). Furthermore, as a clinical feature of this disease, pulmonary hypertension (PH) is a characteristic organ involvement and is the most frequent cause of death, especially in Japan (8)(9)(10).…”

mentioning

confidence: 99%