PSORS12

Psoriasis 12, also known as psoriasis susceptibility 12, is a genetic locus associated with psoriasis. There is a close association with psoriasis 1 and psoriasis 2. PSORS12 is located on chromosome 20q13. An important gene associated with psoriasis 12 is RNF114 (Ring Finger Protein 114).

In a genome-wide association study involving 318 UK patients with psoriasis and 288 controls, Capon et al. (2008) found an association between psoriasis and rs495337 on chromosome 20q13. The results were replicated in a second UK cohort of 1 429 patients and in a third German cohort of 932 patients, yielding a combined p-value of 1.4 x 10(-8). The SNP is located in a genomic region that is in linkage disequilibrium with the RNF114 gene (612451), which is expressed in skin, T lymphocytes, and dendritic cells.

Onoufriadis et al (2012) analyzed the RNF114 gene in 485 psoriasis patients and 842 control subjects and identified four disease-associated variants in the RNF114 promoter, each of which was present in a single patient. It was further shown that 2 of the variants, -41C-T and -64C-A, were associated with decreased SP1 (189906) binding activity and RNF114 gene expression.

1. Capon F et al (2008) Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Molec Genet 17: 1938-1945.
2. Onoufriadis A et al. (2012) Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene. J Invest Derm 132: 1297-1299