title: Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).
abstract: A psoriasis susceptibility locus has been mapped to the HLA region in the proximity of the HLA-C locus. This critical region also contains the CDSN gene coding for the corneodesmosin protein. In a case-control association study of psoriasis in the Sardinian population, we analyzed the allele distribution of eight intragenic SNPs (positions 619, 767, 1215, 1118, 1236, 1243, 1331, 1593) of the CDSN gene and the six haplotypes that are coded by these SNPs. Our study showed that these CDSN haplotypes are very stable and well-conserved in the Sardinian population. The CDSN2 haplotype was found to be associated with susceptibility to psoriasis. The association did not depend upon any one of the intragenic SNPs taken separately. At the HLA-C locus, the Cw6 and Cw7 alleles were dragged along by linkage disequilibrium with the CDSN2 haplotype and only revealed a trend towards association with the disease. Therefore, the intragenic SNPs of the CDSN gene and the HLA-Cw6 and Cw7 alleles are not directly involved in susceptibility to psoriasis. However, the strong association of the CDSN2 haplotype suggests a possible role for the CDSN gene and its chromosome region in susceptibility to psoriasis.
authors.affiliation: Medical Genetics, Department of Medical Sciences, University of Cagliari, Italy. s.orru@tiscalinet.it
authors.forename: S
authors.initials: S
authors.lastname: Orrù
authors.forename: E
authors.initials: E
authors.lastname: Giuressi
authors.forename: M
authors.initials: M
authors.lastname: Casula
authors.forename: A
authors.initials: A
authors.lastname: Loizedda
authors.forename: R
authors.initials: R
authors.lastname: Murru
authors.forename: M
authors.initials: M
authors.lastname: Mulargia
authors.forename: M V
authors.initials: MV
authors.lastname: Masala
authors.forename: D
authors.initials: D
authors.lastname: Cerimele
authors.forename: M
authors.initials: M
authors.lastname: Zucca
authors.forename: N
authors.initials: N
authors.lastname: Aste
authors.forename: P
authors.initials: P
authors.lastname: Biggio
authors.forename: C
authors.initials: C
authors.lastname: Carcassi
authors.forename: L
authors.initials: L
authors.lastname: Contu
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D015236:HLA-C Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics* / Q000473:pathology
chemical_list: C109656:CDSN protein, human; D006023:Glycoproteins; D015236:HLA-C Antigens; C040178:HLA-C*70 antigen; D036341:Intercellular Signaling Peptides and Proteins