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Genes (20)
Species: human : 20 | |
Human | DSG4 | 147409 | desmoglein 4 | DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome | Human | ATP2C1 | 27032 | ATPase, Ca++ transporting, type 2C, member 1 | INFERRED, Score=800, UMLKSK CUI: C0030807 | Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | case-control study describing PTPN22 R620W in pemphigus; no association found between the R620W phenotype and either form of the disease (PV or PF); findings suggest that this polymorphism does not contribute to disease susceptibility | Human | IL10 | 3586 | interleukin 10 | Title:Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.|Association:Not Found|Conclusion:Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF. The increased frequency of the low producer IL-10 haplotype (-1082 /-819 A/T) suggest that the carriage of this haplotype might predispose to pemphigus or the high and intermediate producer haplotypes may be protective factors | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | Title:Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.|Association:Not Found|Conclusion:Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF. | Human | IL4R | 3566 | interleukin 4 receptor | Title:Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.|Association:Not Found|Conclusion:Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF. | Human | IL1B | 3553 | interleukin 1, beta | Title:Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.|Association:Not Found|Conclusion:Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF. | Human | IL1A | 3552 | interleukin 1, alpha | Title:Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.|Association:Not Found|Conclusion:Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF. | Human | HSPB1 | 3315 | heat shock 27kDa protein 1 | P38MAP kinase and HSP27 are phosphorylated in pemphigus skin | Human | HLA-DRB1 | 3123 | | DRB1*0402 without DQB1*0302 is the most relevant HLA-DRB1 allele responsible for the pathogenesis of pemphigus in Venezuelan patients with pemphigus vulgaris Title:Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.|Association:Not Found|Conclusion:These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process. Title:[Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]|Association:Not Found|Conclusion:The results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans. Title:Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.|Association:Not Found|Conclusion:These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV. | Human | HLA-DQB1 | 3119 | | DRB1*0402 without DQB1*0302 is the most relevant HLA-DRB1 allele responsible for the pathogenesis of pemphigus in Venezuelan patients with pemphigus vulgaris Title:[Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]|Association:Y|Conclusion:The results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans. Title:Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.|Association:Not Found|Conclusion:These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV. Title:Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.|Association:Not Found|Conclusion:These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process. | Human | HLA-C | 3107 | | Title:Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.|Association:Not Found|Conclusion:These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV. | Human | HLA-B | 3106 | | Title:Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.|Association:Y|Conclusion:These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process. | Human | HLA-A | 3105 | | Title:Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.|Association:Not Found|Conclusion:These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV. | Human | DSG3 | 1830 | desmoglein 3 | Data suggest that although the desmoglein (Dsg)3 depletion is not indicative for adhesive strength, it may indicate pathogenic changes within the cell and it plays a role in skin fragility or susceptibility to blister formation in pemphigus patients | Human | DSG1 | 1828 | desmoglein 1 | IgM anti-Dsg1 are common in fogo selvagem patients in their native environment and uncommon in other pemphigus phenotypes | Human | MAPK14 | 1432 | mitogen-activated protein kinase 14 | P38MAP kinase and HSP27 are phosphorylated in pemphigus skin | Human | CHRNA7 | 1139 | cholinergic receptor, nicotinic, alpha 7 (neuronal) | M1 muscarinic and alpha7 nicotinic receptors have roles in inhibition of pemphigus acantholysis | Human | CHRM1 | 1128 | cholinergic receptor, muscarinic 1 | M1 muscarinic and alpha7 nicotinic receptors have roles in inhibition of pemphigus acantholysis | Human | CDK2 | 1017 | cyclin-dependent kinase 2 | major Cdk2-dependent multiple gene regulatory events are present in pemphigus vulgar |
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