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PSORIASIS 12, SUSCEPTIBILITY TO; PSORS12

PSORIASIS 12, SUSCEPTIBILITY TO; PSORS12

Cytogenetic location: 20q13 Genomic coordinates (GRCh38): 20:59,700,000-64,444,167▼ MappingIn a genomewide association study involving 318 British patients w...

Cytogenetic location: 20q13 Genomic coordinates (GRCh38): 20:59,700,000-64,444,167

▼ Mapping
In a genomewide association study involving 318 British patients with psoriasis and 288 controls, Capon et al. (2008) found an association between psoriasis and rs495337 on chromosome 20q13 (p = 4.5 x 10(-5)). The findings were replicated in a second British cohort of 1,429 patients, and a third German cohort of 932 patients, yielding an overall combined p value of 1.4 x 10(-8). The SNP maps to a region of the genome in linkage disequilibrium with RNF114 (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 controls and identified 4 disease-associated variants in the RNF114 promoter, each of which was present in a single patient. Electrophoretic mobility shift analysis showed that 2 of the variants, -41C-T and -64C-A, were associated with reduced SP1 (189906)-binding activity and reduced RNF114 gene expression.

Tags: 20q13

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