Single-nucleotide polymorphisms and in patients with psoriasis, psoriatic arthritis, and SAPHO syndrome

Gunter Assmann (1) , Annette D. Wagner (2) , Mueller Monika (3) , Claudia Pfoehler (4) , Michael Pfreundschuh (1) , Wolfgang Tilgen (4) , Klaus Roemer (1)

1 Internal Medicine I, Oncology and Rheumatology and José-Carreras-Research Center
2 MHH - Department of Nephrology
3 Pediatrics
4 Department of Dermatology

Psoriasis (Ps), psoriatic arthritis (PsA), and SAPHO syndrome are diseases of unknown etiology that share common clinical features; however, family studies support the hypothesis of a genetic background for each of these diseases. To study the two common single-nucleotide polymorphisms (SNP) in the murine-double-minute-2-() and genes in patients with Ps, PsA, and SAPHO syndrome. Genomic DNA was obtained from 187 patients with Ps, 50 with PsA, and 36 with SAPHO as well as 478 healthy controls. -gene SNP and -gene SNP genotypes were determined by the polymerase chain reaction. Genotype and allele frequencies were analyzed with χ-tests. Among the patients with Ps and PsA, no differences in allele or genotype frequencies of the -gene SNP and -gene SNP were detected. However, in the SAPHO patients group, the frequencies of the allele and the genotype were significantly increased compared with the controls ( allele: 51.4 vs. 38.7%,  = 0.034; genotype : 36.1 vs. 14.2%,  = 0.002). In addition, the frequencies of the allele and the genotype were also increased in the SAPHO patients cohort ( allele: 36.1 vs. 25.6%,  = 0.05; genotype : 16.7 vs. 6.3%,  = 0.05). SAPHO syndrome may be linked to an imbalance between MDM2 and p53 regulation with a “weak” p53-response associated with the SNP 309 G allele. In contrast, the p53 network does not seem to play a major role in pathogenesis of Ps or PsA.

Mots clés: Polymorphism; p53; Mdm2; Psoriasis; Arthritis; SAPHO

Gunter Assmann, Annette D. Wagner, Mueller Monika, Claudia Pfoehler, Michael Pfreundschuh, et al.. Single-nucleotide polymorphisms and in patients with psoriasis, psoriatic arthritis, and SAPHO syndrome. Rheumatology International, 2009, 30 (10), pp.1273-1276. ⟨10.1007/s00296-009-1136-8⟩. ⟨hal-00552493⟩