Molecular analysis of HLA DRB1 and DQB1 in Italian pemphigus vulgaris patients

Lombardi, Maria Luisa; Tecame, G.; Fusco, Caterina; Ruocco, Vincenzo; Salerno, Alfredo; Mercuro, O.; Manzo, Ciro

doi:10.1016/0198-8859(94)90226-7

Cited by 18 publications

(33 citation statements)

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“…These findings are consistent with previous genotype analyses of AJ, French, Italian, Sardinian, Spanish, Argentinean, and Iranian populations [12,14,16,22,23,35]. A high occurrence of DRB1*1401 has been reported in those of Japanese [20] and Mediterranean lineage [12,13,15,22], as well as an increase in the DRB1*1404 allele in Chinese [19], Indian [21], Pakistani [18], and French [12] PV patients (Table 1). In the analysis of 32 AJ patients, only DRB1*0402 was significantly overrepresented at the DRB1 locus (Table 2).…”

Section: Hla Allele Associations In Ashkenazi Jewish and Non-jewish Csupporting

confidence: 91%

“…The frequencies of two alleles, DQB1*0503 and 0302, deviated significantly in NJ Caucasian patients from controls (Table 2). DQB1*0302 has been reported in studies of other nonJewish Europeans (French, Italian, Sardinian) [22] and DQB1*0503 has been reported to be overrepresented in patients who are non-Jewish of European descent [18] as well as several other ethnic groups [6,9,12,13,15,19,21,36]. The only significantly elevated allele at the DQB1 locus in AJ patients is 0302 (Table 2), consistent with previous reports.…”

Section: Hla Allele Associations In Ashkenazi Jewish and Non-jewish Csupporting

confidence: 89%

“…However, population studies of patients with PV have clearly shown that there are differences among the most prevalent alleles in various ethnic groups (summarized in Table 1). Nine DRB1 alleles have been associated with PV (DRB1*0402, *0403, *0406, *0802, *0804, *1401, *1404, *1405, *1408) in 11 distinct populations [12][13][14][15][16][17][18][19][20]. Two DQB1 alleles, DQB1*0302 and DQB1*0503, are associated with PV patients across the world as well [9,12,13,15,19,21].…”

Section: Introductionmentioning

confidence: 99%

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Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

Lee¹,

Lendas²,

Chow³

et al. 2007

Human Immunology

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Early studies of genetic susceptibility to pemphigus vulgaris (PV) showed associations between human leukocyte antigen (HLA) DR4 and DR6 and disease. The emergence of DNA sequencing techniques has implicated numerous DRB1 and DQB1 loci in various populations, leading to confusion regarding which exact alleles confer susceptibility. The strong linkage disequilibrium among DR and DQ HLA alleles further complicates the investigation of the true susceptibility loci. In this study, we report genotyping data for the largest sampling of North American Caucasian nonJewish and Ashkenazi Jewish PV patients studied to date and compare our data with other population studies. To pinpoint true susceptibility, alleles among overrepresented sequences, we applied a step-wise reductionist analysis through (1) determination of the degree of linkage disequilibrium (LD) between purportedly associated alleles, (2) haplotype frequencies comparisons, and (3) primary sequence comparisons of disease-associated versus non-disease-associated alleles to identify crucial differences in amino acid residues in putative peptide binding pockets. Collectively, our data provide extended support for the hypothesis that the HLA associations in Caucasian PV patients map to DRB1*0402 and DQB1*0503 alone. Further structure-function studies will be required to define the exact mechanisms of HLA-mediated control of susceptibility and resistance to disease. Human Immunology 68, 630 -643 (2007).

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Section: Hla Allele Associations In Ashkenazi Jewish and Non-jewish Csupporting

confidence: 91%

Section: Hla Allele Associations In Ashkenazi Jewish and Non-jewish Csupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

Lee¹,

Lendas²,

Chow³

et al. 2007

Human Immunology

View full text Add to dashboard Cite

show abstract

“…These findings are consistent with previous genotype analyses of AJ, French, Italian, Sardinian, Spanish, Argentinean, and Iranian populations [12,14,16,22,23,35]. A high occurrence of DRB1*1401 has been reported in those of Japanese [20] and Mediterranean lineage [12,13,15,22], as well as an increase in the DRB1*1404 allele in Chinese [19], Pakistani [21], and French [12] PV patients (Table 1). In the analysis of 32 AJ patients, only DRB1*0402 was significantly overrepresented at the DRB1 locus (Table 2).…”

Section: Hla Allele Associations In Ashkenazi Jewish and Non-jewish Csupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians With Pemphigus Vulgaris

et al. 2006

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Coexistence of rheumatoid arthritis, myasthenia gravis, and pemphigus superficialis

Schiavo

Guerrera

Migliaresi³

et al. 1995

Journal of the European Academy of Dermatology and Venereology

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D-Penicillamine (DP) is widely used nowadays in the treatment of rheumatoid arthritis, despite its well known side effects of an autoimmune nature, often associated with specific histocompatibility antigens (HLA). We report the case of a woman, suffering from rheumatoid arthritis (RA), treated with DP, who developed myasthenia gravis (MG) and pemphigus foliaceus (PF) and whose phenotype has only antigens usually associated with pemphigus. This may be the second published case of concurrent pemphigus and myasthenia gravis induced by D-penicillamine therapy, in the absence of thymoma.

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Molecular analysis of HLA DRB1 and DQB1 in Italian pemphigus vulgaris patients

Cited by 18 publications

References 0 publications

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians with Pemphigus Vulgaris

Disease Relevant HLA Class II Alleles Isolated by Genotypic, Haplotypic, and Sequence Analysis in North American Caucasians With Pemphigus Vulgaris

Coexistence of rheumatoid arthritis, myasthenia gravis, and pemphigus superficialis

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