Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 44 patients with morphea the incidence of internal organ involvement was studied. For the clinical study, only patients with disseminated (22 patients), linear (20 patients), and generalized morphea (2 patients) were considered. Systemic parameters were determined for inflammation and the function of the esophagus, lung, heart and kidneys. In 22 patients, mostly with the linear form of morphea, the muscles were studied by electromyography. In 23 patients the HLA-A, HLA-B, HLA-C and HLA-DR patterns were determined; 27% of the patients showed systemic organ manifestations. Esophagus function was impaired in 10 and lung function in 6 cases; 15 patients showed myositis. The degree of systemic involvement was correlated with the type of morphea and the grade of systemic inflammation. Generalized morphea showed a high rate of organ involvement (2 of 2); in linear morphea organ involvement was reduced to 34% and in the disseminated form, to 14%. There was a significant association of HLA-DR1 and -DR5 with the different types of morphea.
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PMID:[Circumscribed scleroderma: internal manifestations and significant correlation to HLA-DR1 and DR5]. 387 10

Forty-eight patients with various kinds of myositis were studied for HLA-A, B, C, and DR antigens and compared to both local and 7th International Workshop controls. No A, B, or C antigens were increased except for B8 in white patients (7/13 or 54%) (p = 0.005, pc = NS) and for B7 in black patients (6/9 or 67%) (p = 0.02, pc = NS). HLA-DR3 occurred in 8/12, or 67% of whites with polymyositis (PM) as compared to 23% of white controls (p = 0.003, pc = 0.02). HLA-DRw6 was found in 7/9, or 78%, of blacks with PM compared to 26% of black local controls (p = 0.005, pc = 0.04) and 38% of black Workshop controls (p-0.05, pc = NS). Dermatomyositis (DM) patients, however, showed no increased frequencies of any HLA antigens. HLA-DR4 was decreased overall (p = 0.005, pc = 0.04). These immunogenetic differences between PM and DM suggest that they are pathogenetically different disorders.
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PMID:HLA-D related (DR) antigens in various kinds of myositis. 694 1

The idiopathic inflammatory myopathies (IIM) are systemic connective tissue diseases in which autoimmune pathology is suspected to promote chronic muscle inflammation and weakness. We have performed low to high resolution genotyping to characterize the allelic profiles of HLA-A, -B, -Cw, -DRB1, and -DQA1 loci in a large population of North American Caucasian patients with IIM representing the major clinicopathologic groups (n = 571). We confirmed that alleles of the 8.1 ancestral haplotype were important risk markers for the development of IIM, and a random forests classification analysis suggested that within this haplotype, HLA-B*0801, DRB1*0301 and/ or closely linked genes are the principal HLA risk factors. In addition, we identified several novel HLA factors associated distinctly with 1 or more clinicopathologic groups of IIM. The DQA1*0201 allele and associated peptide-binding motif (KLPLFHRL) were exclusive protective factors for the CD8+ T cell-mediated IIM forms of polymyositis (PM) and inclusion body myositis (IBM) (pc < 0.005). In contrast, HLA-A*68 alleles were significant risk factors for dermatomyositis (DM) (pc = 0.0021), a distinct clinical group thought to involve a humorally mediated immunopathology. While the DQA1*0301 allele was detected as a possible risk factor for IIM, PM, and DM patients (p < 0.05), DQA1*03 alleles were protective factors for IBM (pc = 0.0002). Myositis associated with malignancies was the most distinctive group of IIM wherein HLA Class I alleles were the only identifiable susceptibility factors and a shared HLA-Cw peptide-binding motif (AGSHTLQWM) conferred significant risk (pc = 0.019). Together, these data suggest that HLA susceptibility markers distinguish different myositis phenotypes with divergent pathogenetic mechanisms. These variations in associated HLA polymorphisms may reflect responses to unique environmental triggers resulting in the tissue pathospecificity and distinct clinicopathologic syndromes of the IIM.
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PMID:Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1 and -DQA1 allelic profiles and motifs define clinicopathologic groups in caucasians. 1626 9

The idiopathic inflammatory myopathies (IIM) are systemic connective tissue diseases defined by chronic muscle inflammation and weakness associated with autoimmunity. We have performed low to high resolution molecular typing to assess the genetic variability of major histocompatibility complex loci (HLA-A, -B, -Cw, -DRB1, and -DQA1) in a large population of European American patients with IIM (n = 571) representing the major myositis autoantibody groups. We established that alleles of the 8.1 ancestral haplotype (8.1 AH) are important risk factors for the development of IIM in patients producing anti-synthetase/anti-Jo-1, -La, -PM/Scl, and -Ro autoantibodies. Moreover, a random forests classification analysis suggested that 8.1 AH-associated alleles B*0801 and DRB1*0301 are the principal HLA risk markers. In addition, we have identified several novel HLA susceptibility factors associated distinctively with particular myositis-specific (MSA) and myositis-associated autoantibody (MAA) groups of the IIM. IIM patients with anti-PL-7 (anti-threonyl-tRNA synthetase) autoantibodies have a unique HLA Class I risk allele, Cw*0304 (pcorr = 0.046), and lack the 8.1 AH markers associated with other anti-synthetase autoantibodies (for example, anti-Jo-1 and anti-PL-12). In addition, HLA-B*5001 and DQA1*0104 are novel potential risk factors among anti-signal recognition particle autoantibody-positive IIM patients (pcorr = 0.024 and p = 0.010, respectively). Among those patients with MAA, HLA DRB1*11 and DQA1*06 alleles were identified as risk factors for myositis patients with anti-Ku (pcorr = 0.041) and anti-La (pcorr = 0.023) autoantibodies, respectively. Amino acid sequence analysis of the HLA DRB1 third hypervariable region identified a consensus motif, 70D (hydrophilic)/71R (basic)/74A (hydrophobic), conferring protection among patients producing anti-synthetase/anti-Jo-1 and -PM/Scl autoantibodies. Together, these data demonstrate that HLA signatures, comprising both risk and protective alleles or motifs, distinguish IIM patients with different myositis autoantibodies and may have diagnostic and pathogenic implications. Variations in associated polymorphisms for these immune response genes may reflect divergent pathogenic mechanisms and/or responses to unique environmental triggers in different groups of subjects resulting in the heterogeneous syndromes of the IIM.
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PMID:Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies. 1660 50