CDSN, corneodesmosin, 1041

N. diseases: 101; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE We investigated, in 461 psoriatic patients and 454 healthy controls, the associations with psoriasis of four single-nucleotide polymorphisms (SNPs) from the psoriasis susceptibility 1 (PSORS1) interval: rs1062470 (PSORS1C1/CDSN), rs887466 (PSORS1C3), rs2894207 and rs10484554 (LOC105375015). 29589160 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE PSORS1C2 is a gene located between coiled-coil alpha-helical rod protein 1 (CCHCR1) and corneodesmosin (CDSN) within the psoriasis susceptibility locus 1 (PSORS1). 27943452 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 Biomarker disease BEFREE Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin using immunofluorescence microscopy. 25078048 2014
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 Biomarker disease BEFREE PSORS1C1/CDSN is a susceptibility gene for psoriasis. 23769905 2013
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE The CDSN gene is located in PSORS1, the major psoriasis susceptibility locus on the chromosome 6, but to date its involvement in the disease pathophysiology is not clear. 21628128 2011
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE In conclusion, this meta-analysis suggests that CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis. 22033905 2011
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE The recombinant haplotype analysis of the HLA-Cw6 and CDSN*TTC alleles in 228 Chinese families showed that the HLA-Cw6(-)/CDSN*TTC(+) recombinant haplotype is clearly not associated with risk for psoriasis (TratioNT = 29:57, p = 0.0025) in a Chinese population, suggesting that the CDSN*TTC allele itself does not confer risk without the presence of the HLA-Cw6 allele. 18369457 2008
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. 16965413 2006
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE I review two examples of such challenges: the cloning of GPR154 (GPRA) and AAA1 on chromosome 7p14 at a susceptibility locus for atopy and asthma, and the study of HLA-Cw6, CCHCR1 (HCR) and CDSN on chromosome 6p21 at PSORS1, the major susceptibility locus for psoriasis. 16096103 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE These results suggest that a major psoriasis susceptibility gene is likely to be located within a region of 150 kb telomeric to HLA-C and centromeric to the CDSN gene. 16297191 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE With two rounds of the method and five single nucleotide polymorphisms, molecular haplotypes of 29.3 kb spanning the HCR and CDSN genes, two genes associated with the susceptibility of psoriasis, of 11 members, belonging to a CEPH family, were revealed. 16134125 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE However the lack of association with HLA-Cw6 and CDSN alleles in Japanese psoriasis patients may be because Japanese patients exhibit a form of psoriasis similar to late onset or Type II psoriasis vulgaris in contrast to early onset or Type I disease characterizing our Caucasian population. 15953084 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN). 15529278 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. 15333584 2004
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE In fact, a significant association between CDSN polymorphism and psoriasis was recently recognized in Caucasian populations. 12956875 2003
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE We aimed to determine whether Cw6 and the genetic polymorphism of the CDSN gene, POU5F1 gene, MICA gene and the gene for TNF-alpha promoter region were associated with an increased risk of psoriasis in Chinese patients. 12653732 2003
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 Biomarker disease BEFREE These findings indicate that CDSN is not a major psoriasis susceptibility gene. 12366786 2002
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 Biomarker disease BEFREE However, the strong association of the CDSN2 haplotype suggests a possible role for the CDSN gene and its chromosome region in susceptibility to psoriasis. 12472658 2002
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE The corneodesmosin gene locus (CDSN) is only 160 kb telomeric to HLA-C and tightly associated with psoriasis. 11556968 2001
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 Biomarker disease BEFREE To investigate a potential role for Cdsn in psoriasis pathogenesis, protein expression studies were performed by quantitative immunohistochemistry on normal skin, psoriatic skin (lesional and nonlesional), and other skin disorders using monoclonal antibodies (G36-19 and F28-27). 11454986 2001
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE This fact suggests that the psoriasis susceptibility gene is located within a critical region of 147 kb, telomeric to HLA-C and centromeric to the corneodesmosin gene, and the association of Cw6 to psoriasis may be secondary to linkage disequilibrium. 11069619 2000
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE An association study of the new HCR polymorphisms and the previously suggested susceptibility alleles HLA-Cw*0602 and corneodesmosin allele 5 (CD*5) with psoriasis revealed a specific HCR variant associated with psoriasis susceptibility. 10888604 2000
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE One allele at the CD locus, designated CD2, displayed strong linkage disequilibrium with HLA-Cw6, the HLA allele most prominently associated with psoriasis. 10599883 1999
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease BEFREE The strong association found here, coupled with the biological involvement of the MHC S gene product corneodesmosin in skin physiology, implicates this locus (or a haplotype across HLA-C and MHC S ) in the impaired desquamation characteristic of psoriasis. 10332047 1999