Identification of cell types, tissues and pathways affected by risk loci in psoriasis

• Published in: Molecular genetics and genomics : MGG 2016-04, Vol.291 (2), p.1005-1012
• Main Authors: Lin, Yan, Zhao, Pan, Shen, Changbing, Shen, Songke, Zheng, Xiaodong, Zuo, Xianbo, Yang, Sen, Zhang, Xuejun, Yin, Xianyong
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biochemistry; Biomedical and Life Sciences; CD56 Antigen - genetics; Dermatology; Disease; Gene expression; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; Genomics; Human Genetics; Humans; Immunity, Innate - genetics; Killer Cells, Natural - metabolism; Killer Cells, Natural - pathology; Life Sciences; Medical research; Metabolic Networks and Pathways - genetics; Methods Paper; Microbial Genetics and Genomics; Monocytes - metabolism; Monocytes - pathology; NF-kappa B - biosynthesis; NF-kappa B - genetics; Plant Genetics and Genomics; Polymorphism, Single Nucleotide; Psoriasis; Psoriasis - genetics; Psoriasis - pathology; Tissue Distribution - genetics; White people
• ISSN: 1617-4615; 1617-4623
• DOI: 10.1007/s00438-015-1141-4

Many common variants have been found associated with the risk of psoriasis, but the underlying mechanism is still largely unknown, mostly owing to the difficulty in dissecting the mechanism of each variant using representative cell type and tissue in biological experiments. We applied an integrative method SNPsea which has been developed by investigators in Broad, to identify the most relevant cell types, tissues, and pathways to psoriasis by assessing the condition specificity affected by psoriasis genome-wide association studies-implicated genes. We employed this software on 89 single-nucleotide polymorphisms with genome-wide significance in Han Chinese and Caucasian populations. We found significant evidence for peripheral blood CD56 + NK cells (P = 1.30 × 10⁻⁷), Langerhans cells (P = 4.96 × 10⁻⁶) and CD14+ monocytes (P