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Selected Works

Selected Works

2007

Psoriasis

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Genetic Characterization Of The Psoriasis-Associated Gene Il23r, Steven J. Schrodi Apr 2007

Genetic Characterization Of The Psoriasis-Associated Gene Il23r, Steven J. Schrodi

Steven J Schrodi

Using a multi-tiered, case-control association design, scanning over 25,000 gene-centric SNPs, we recently identified two psoriasis susceptibility genes: IL12B and IL23R (Cargill et al, 2007). One of the IL23R missense SNPs implicated in psoriasis has also been strongly associated with predisposition to inflammatory bowel disease (Duerr et al, 2006; Van Limbergen et al, 2007; Rioux et al, 2007; Libioulle et al, 2007; Dubinsky et al, 2007). To refine our initial association results and further investigate the region involved in psoriasis risk, we extended our genetic analysis by resequencing this gene in 96 psoriatic individuals. Twelve novel IL23R SNPs were discovered …


Detailed Genetic Characterization Of The Psoriasis-Associated Gene Il12b To Further Define The Causal Variant(S), Steven J. Schrodi Apr 2007

Detailed Genetic Characterization Of The Psoriasis-Associated Gene Il12b To Further Define The Causal Variant(S), Steven J. Schrodi

Steven J Schrodi

A multi-tiered, case-control association study using a collection of over 25,000 gene-centric SNPs, identified association between a 3’UTR SNP in IL12B, rs3212227, and psoriasis risk (allelic Pcomb = 7.85 x 10-10) in three independent sample sets (Cargill et al. 2007) confirming the results of a previous small candidate gene study in Japanese (Tsunemi et al. 2002). To determine whether any other SNPs in this gene region were associated with psoriasis we used a combination of tag SNPs (N=27), which had the highest average power to detect disease-associated variants under a conservative disease model, and functional SNPs (N=3) to genotype our …