S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene

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S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene

Enerbäck, Charlotta, 1965 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Enlund, Fredrik, 1968 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Inerot, Annica, 1949 (author): Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology

Samuelsson, Lena, 1962 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Wahlström, Jan, 1939 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Swanbeck, Gunnar, 1934 (author): Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology

Martinsson, Tommy, 1956 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

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2000
2000
English.
In: J Invest Dermatol. - 0022-202X .- 0022-202X. ; 114:6, s. 1158-63

Related links:: https://gup.ub.gu.se...

Journal article (peer-reviewed)

Abstract Subject headings

Psoriasis is a heterogeneous disease in which several reports suggest the presence of a susceptibility gene in or in the proximity of the human leukocyte antigen complex in chromosome 6p. There is an association between HLA-Cw6 and young onset of the disease. The S gene (corneodesmosin), located 160 kb telomeric of HLA-C, is a strong candidate for psoriasis due to its reportedly exclusive expression in differentiating keratinocytes. We have studied this gene in a large Swedish psoriasis population and we report a strikingly high degree of polymorphism in the coding parts of the gene, 1 every 100 base pairs. We used a stratified approach to compare the polymorphic variants in patients and controls. A single nucleotide polymorphism in the coding region leading to an amino acid exchange (Ser-->Phe) that differed significantly between patients and controls was identified (position 619). Owing to a high allele frequency in a larger control group, however, and an insignificant influence of the variant on the age at onset distribution curve based on a large psoriasis population, we could not confirm that this coding single nucleotide polymorphism was involved in disease etiology. We also examined the single nucleotide polymorphism in position 1243, recently proposed to have an influence on the pathogenesis of the disease. This polymorphism showed less association to the disease as compared with the single nucleotide polymorphism at positions 619 and 722. Such a high degree of variation present also in an HLA gene which is not involved in immune response indicates the difficulty involved in assessing the role of a specific allele in the pathogenesis of a complex disease in this region. A strong association effect due to linkage disequilibrium in an extended region in the HLA complex is also a complicating factor.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences (hsv//eng)

Keyword

Alleles
DNA Restriction Enzymes/analysis
Female
Glycoproteins/*genetics
HLA Antigens/chemistry/genetics
HLA-C Antigens/genetics
Heat-Shock Proteins/analysis
Humans
Male
Peptide Fragments/analysis
Psoriasis/*genetics
Sequence Analysis
DNA
Sweden

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ref (subject category)
art (subject category)

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Other Medical an ...

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By the university: University of Gothenburg

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