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- DOI: 10.1111/j.1365-2133.2008.08482.x
- PMID: 18341666
- UKPMCID: 18341666
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Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.
Smith, Rh Ll; Warren, R B; Eyre, S; Ke, X; Young, H S; Allen, M; Strachan, D; McArdle, W; Gittins, M P; Barker, J N W N; Griffiths, C E M; Worthington, J
Br J Dermatol. 2008;158(5):962-8.
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Full-text held externally
- DOI: 10.1111/j.1365-2133.2008.08482.x
- PMID: 18341666
- UKPMCID: 18341666
Abstract
BACKGROUND: Psoriasis, a chronic inflammatory skin disease, affects approximately 2% of the population worldwide. Although the aetiology of psoriasis is poorly understood, patients with disease of early onset (Type I, age of onset<or=40 years) usually have a strong genetic component to the disease. OBJECTIVES: The purpose of this study was to investigate the role of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene region in susceptibility to Type I psoriasis. PATIENTS AND METHODS: Thirteen single nucleotide polymorphisms (SNPs) mapping to the PTPN22 region were genotyped in 647 patients with Type I psoriasis and 566 normal controls. RESULTS: The rs2476601 (R620W) SNP, widely associated with other inflammatory autoimmune diseases, showed no evidence of association with susceptibility to Type I psoriasis. Two SNPs (rs1217414 and rs3789604) demonstrated significant association with Type I psoriasis and were subsequently genotyped in a further 253 unrelated patients and 2024 normal controls. rs1217414 and rs3789604 were also significantly associated with Type I psoriasis in the combined datasets (P=0.003 and P=0.0002, respectively); furthermore carriage of both risk alleles was also significantly associated (P=0.002). CONCLUSIONS: This study demonstrates evidence of association of two SNPs (rs1217414 and rs3789604) in the PTPN22 region with Type I psoriasis, providing evidence for a role of this gene in Type I psoriasis that is not conferred by the R620W variant previously associated with a number of inflammatory diseases.