Journal of Clinical & Experimental Dermatology Research
Open Access

Exome sequencing reveals the contribution of coding variants for psoriasis

7^th European Dermatology Congress

June 13-14, 2016 Alicante, Spain

Yujun Sheng

Anhui Medical University, China

Posters & Accepted Abstracts: Clin Exp Dermatol Res

Abstract :

Psoriasis is a chronic and multifactorial skin disease characterized by sharply demarcated erythematous plaques with adherent silvery scales. Currently, more than 40 susceptibility genes/loci have been identified through large-scale association studies, particularly genome-wide association studies (GWAS); however, most of the identified risk variants are expected to be tagging SNPs and the functional coding variants of these susceptibility genes, particularly those that are of low frequency and rare, are largely refractory to the interrogation by GWAS and have therefore not been systematically investigated. To investigate the contribution of functional coding variants and non-coding variants to the genetic susceptibility of psoriasis and identify additional association with the disease, we carried out a large-scale sequencing analysis in three independent samples comprising 32,310 individuals of Chinese Han. We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis and identified 3 new susceptibility loci exceeded the genomewide significance threshold. The results of this study indicated that coding variants, at least non-synonymous ones with low and rare frequency might have limited contribution to the overall genetic risk of psoriasis and increase the number of confirmed psoriasis risk loci.

Biography :

Email: ahmusyj@163.com