PMID- 10599883
OWN - NLM
STAT- MEDLINE
DCOM- 20000111
LR  - 20191210
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 54
IP  - 5
DP  - 1999 Nov
TI  - Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with 
      HLA and association with psoriasis vulgaris.
PG  - 439-49
AB  - Corneodesmosin (CD) is thought to play a key role in corneocyte cohesion, and its
      proteolysis appears to be a major event in the process of desquamation. Recently 
      it was shown that CD is encoded by the S-gene, which is located approximately 160
      kb telomeric of HLA-C. In the present study, the role of CD in the genetics of
      psoriasis vulgaris was studied in greater detail. The second exon of the CD gene 
      was sequenced in 86 HLA-typed individuals from 13 psoriasis multiplex families. A
      total of 11 silent dimorphisms and 7 variants resulting in amino acid
      substitutions were found. Pedigree analysis showed that these variants could be
      grouped into 7 alleles, encoding 6 different amino acid sequences. These alleles 
      are in strong linkage disequilibrium with HLA-B and -C, indicating that the
      polymorphism of the CD gene is ancient and well conserved rather than sporadic.
      One allele at the CD locus, designated CD2, displayed strong linkage
      disequilibrium with HLA-Cw6, the HLA allele most prominently associated with
      psoriasis. CD2 demonstrated a greater relative risk than Cw6 (3.4 vs. 2.5, not
      significant) and higher significant transmission disequilibrium with psoriasis
      than any of the investigated HLA-alleles. Due to its biologic function, cellular 
      location and disease association, the CD gene appears to be an excellent
      candidate gene for PSORS1, the HLA-linked determinant of psoriasis vulgaris.
FAU - Jenisch, S
AU  - Jenisch S
AD  - Department of Immunology, University of Kiel, Germany.
      jenisch@immunologie.uni-kiel.de
FAU - Koch, S
AU  - Koch S
FAU - Henseler, T
AU  - Henseler T
FAU - Nair, R P
AU  - Nair RP
FAU - Elder, J T
AU  - Elder JT
FAU - Watts, C E
AU  - Watts CE
FAU - Westphal, E
AU  - Westphal E
FAU - Voorhees, J J
AU  - Voorhees JJ
FAU - Christophers, E
AU  - Christophers E
FAU - Kronke, M
AU  - Kronke M
LA  - eng
SI  - GENBANK/AJ238461
SI  - GENBANK/AJ238462
SI  - GENBANK/AJ238463
SI  - GENBANK/AJ238464
SI  - GENBANK/AJ238465
SI  - GENBANK/AJ238466
SI  - GENBANK/AJ238467
GR  - P30 HG00209-03/HG/NHGRI NIH HHS/United States
GR  - R01 AR4274-01/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (CDSN protein, human)
RN  - 0 (Glycoproteins)
RN  - 0 (HLA Antigens)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
SB  - IM
MH  - Alleles
MH  - Cohort Studies
MH  - Exons
MH  - Family Health
MH  - Genetic Predisposition to Disease
MH  - Glycoproteins/*genetics
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - Histocompatibility Testing
MH  - Humans
MH  - Intercellular Signaling Peptides and Proteins
MH  - *Linkage Disequilibrium
MH  - Molecular Sequence Data
MH  - *Polymorphism, Genetic
MH  - Psoriasis/*genetics/immunology
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - 10.1034/j.1399-0039.1999.540501.x [doi]
PST - ppublish
SO  - Tissue Antigens. 1999 Nov;54(5):439-49. doi: 10.1034/j.1399-0039.1999.540501.x.