Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus (Articolo in rivista)

Type
Label
  • Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus (Articolo in rivista) (literal)
Anno
  • 2004-01-01T00:00:00+01:00 (literal)
Alternative label
  • Emiliano Giardina; Francesca Capon; Maria Cristina De Rosa; Ruggiero Mango; Giovanna Zambruno; Angela Orecchia; Sergio Chimenti; Bruno Giardina; Giuseppe Novelli (2004)
    Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus
    in Annals of human genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Emiliano Giardina; Francesca Capon; Maria Cristina De Rosa; Ruggiero Mango; Giovanna Zambruno; Angela Orecchia; Sergio Chimenti; Bruno Giardina; Giuseppe Novelli (literal)
Pagina inizio
  • 639 (literal)
Pagina fine
  • 645 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 68 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome; Division of Medical Genetics, University of Leicester, LE1 7RH, United Kingdom; Institute of Biochemistry and Clinical Biochemistry and C.N.R. Institute for the study of the Chemistry of Molecular Recognition, Catholic University of Rome; Molecular and Cell Biology Laboratory, I.D.I.-IRCCS, Rome; Department of Dermatology, Tor Vergata University of Rome, Italy; Department of Cardiovascular Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas,72205, USA (literal)
Titolo
  • Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus (literal)
Abstract
  • Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Nonparametric linkage analyses have mapped many susceptibility loci on different chromosomes. We mapped one of these loci, PSORS4, on human chromosome 1q21. Using the linkage disequilibrium approach, we refined the critical region to a specific genomic interval of about 100 Kb which contains only the loricrin (LOR) gene. Here we report a genetic and functional study of this gene to verify its involvement in psoriasis pathogenesis.We document low expression of LOR in psoriatic skin of patients selected from families in which the disease was segregrating with the PSORS4 locus. Re-sequencing of the entire gene in a subset of patients revealed the existence of novel polymorphisms able to influence the protein structure, as shown by molecular modelling studies. However, no evidence for genetic association was detected in a large cohort of Italian nuclear families. This rules out the LOR gene as a candidate for the PSORS4 locus. (literal)
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