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Updated: Apr 15, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis
Xianbo Zuo1, Liangdan Sun1, Xianyong Yin1
11] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Department of Dermatology, Huashan Hospital, Fudan University, Shanghai 200040, China [3] Department of Dermatology, No.2 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [4] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [5] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [6] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [7] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
Abstract:
Genome-wide association studies (GWASs) have reproducibly associated ∼40 susceptibility loci with psoriasis. However, the missing heritability is evident and the contributions of coding variants have not yet been systematically evaluated. Here, we present a large-scale whole-exome array analysis for psoriasis consisting of 42,760 individuals. We discover 16 SNPs within 15 new genes/loci associated with psoriasis, including C1orf141, ZNF683, TMC6, AIM2, IL1RL1, CASR, SON, ZFYVE16, MTHFR, CCDC129, ZNF143, AP5B1, SYNE2, IFNGR2 and 3q26.2-q27 (P<5.00 × 10(-08)). In addition, we also replicate four known susceptibility loci TNIP1, NFKBIA, IL12B and LCE3D-LCE3E. These susceptibility variants identified in the current study collectively account for 1.9% of the psoriasis heritability. The variant within AIM2 is predicted to impact protein structure. Our findings increase the number of genetic risk factors for psoriasis and highlight new and plausible biological pathways in psoriasis.
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