title: A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis.
abstract: A C-insertion polymorphism in the NOD2 gene (3020insC) on chromosome 16 is a rare mutation associated with Crohn's disease. Crohn's disease and psoriasis are more commonly observed together than expected by chance. Furthermore a susceptibility locus for psoriasis has been identified on chromosome 16q which overlaps the recently identified susceptibility locus for Crohn's disease. Thus, NOD2 may potentially be important as a candidate susceptibility gene for psoriasis. We tested this hypothesis by genotyping psoriasis patients for the C-insertion polymorphism using the Taqman ABI 7700 sequencing system. No statistically significant differences were observed between psoriasis vulgaris (n = 216), palmo-plantar pustular psoriasis (PPP) (n = 100), guttate psoriasis (n = 118) and the control group (n = 283). In both patient and control groups, no mutant homozygotes were observed and approximately 4% were heterozygotes. This particular insertion mutation in the NOD2 gene does not appear to contribute to the genetic susceptibility of psoriasis vulgaris, PPP or guttate psoriasis. However, other mutations exist in the NOD2 gene, which may potentially have a role in psoriasis susceptibility.
authors.affiliation: St. John's Institute of Dermatology, Guy's, Kings & St Thomas' School of Medicine, London, UK.
authors.forename: C
authors.initials: C
authors.lastname: Young
authors.forename: M H
authors.initials: MH
authors.lastname: Allen
authors.forename: A
authors.initials: A
authors.lastname: Cuthbert
authors.forename: M
authors.initials: M
authors.lastname: Ameen
authors.forename: C
authors.initials: C
authors.lastname: Veal
authors.forename: J
authors.initials: J
authors.lastname: Leman
authors.forename: A D
authors.initials: AD
authors.lastname: Burden
authors.forename: B
authors.initials: B
authors.lastname: Kirby
authors.forename: C E M
authors.initials: CE
authors.lastname: Griffiths
authors.forename: R C
authors.initials: RC
authors.lastname: Trembath
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
authors.forename: J N W N
authors.initials: JN
authors.lastname: Barker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003424:Crohn Disease / Q000150:complications / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D011110:Polymorphism, Genetic; D011565:Psoriasis / Q000150:complications / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D004247:DNA