title: Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
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.
authors: 1] 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.
authors: Xianbo
authors: X
authors: Zuo
authors: 1] 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.
authors: Liangdan
authors: L
authors: Sun
authors: 1] 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.
authors: Xianyong
authors: X
authors: Yin
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Jinping
authors: J
authors: Gao
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Yujun
authors: Y
authors: Sheng
authors: 1] Department of Dermatology, Huashan Hospital, Fudan University, Shanghai 200040, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China.
authors: Jinhua
authors: J
authors: Xu
authors: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors: Jianzhong
authors: J
authors: Zhang
authors: Department of Dermatology, No.1 Hospital of China Medical University, Shenyang, Liaoning 110001, China.
authors: Chundi
authors: C
authors: He
authors: Department of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong 272011, China.
authors: Ying
authors: Y
authors: Qiu
authors: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors: Guangdong
authors: G
authors: Wen
authors: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong 250022, China.
authors: Hongqing
authors: H
authors: Tian
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Xiaodong
authors: X
authors: Zheng
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Shengxiu
authors: S
authors: Liu
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Wenjun
authors: W
authors: Wang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Weiran
authors: W
authors: Li
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Yuyan
authors: Y
authors: Cheng
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Longdan
authors: L
authors: Liu
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Yan
authors: Y
authors: Chang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Zaixing
authors: Z
authors: Wang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Zenggang
authors: Z
authors: Li
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Longnian
authors: L
authors: Li
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Jianping
authors: J
authors: Wu
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Ling
authors: L
authors: Fang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Changbing
authors: C
authors: Shen
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Fusheng
authors: F
authors: Zhou
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Bo
authors: B
authors: Liang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Gang
authors: G
authors: Chen
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Hui
authors: H
authors: Li
authors: 1] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [2] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [3] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [4] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Yong
authors: Y
authors: Cui
authors: The Third People's Hospital of Hangzhou, Hangzhou, Zhejiang 310009, China.
authors: Aie
authors: A
authors: Xu
authors: Department of Dermatology, General Hospital of PLA Air Force, Beijing 100036, China.
authors: Xueqin
authors: X
authors: Yang
authors: Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China.
authors: Fei
authors: F
authors: Hao
authors: Department of Dermatology, Tianjin Changzheng Hospital, Tianjin 300106, China.
authors: Limin
authors: L
authors: Xu
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Xing
authors: X
authors: Fan
authors: Department of Dermatology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150000, China.
authors: Yuzhen
authors: Y
authors: Li
authors: Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical College, Huhehot, Inner Mongolia 010050, China.
authors: Rina
authors: R
authors: Wu
authors: Shanghai Skin Diseases and STD Hospital, Shanghai 200050, China.
authors: Xiuli
authors: X
authors: Wang
authors: Department of Dermatology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning 116011, China.
authors: Xiaoming
authors: X
authors: Liu
authors: Department of Dermatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Zhenjiang 310009, China.
authors: Min
authors: M
authors: Zheng
authors: Department of Dermatology, Dalian Dermatosis Hosptial, Liaoning 116011, China.
authors: Shunpeng
authors: S
authors: Song
authors: Department of Dermatology, Yijishan Hospital of Wannan Medical College, Wuhu, Anhui 241000, China.
authors: Bihua
authors: B
authors: Ji
authors: Department of Dermatology, The First Affiliated Hospital of Zhejiang University School of Medicine, Zhenjiang 310006, China.
authors: Hong
authors: H
authors: Fang
authors: Department of Dermatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
authors: Jianbin
authors: J
authors: Yu
authors: Department of Dermatology, Anshan Tanggangzi hosptial, Liaoning 210300, China.
authors: Yongxin
authors: Y
authors: Sun
authors: Department of Dermatology, First Affiliated Hospital of Xinjiang Medical University, Xinjiang 830054, China.
authors: Yan
authors: Y
authors: Hui
authors: Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong 250022, China.
authors: Furen
authors: F
authors: Zhang
authors: Department of Dermatology, General Hospital of Beijing Military Command, Beijing 100010, China.
authors: Rongya
authors: R
authors: Yang
authors: 1] Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China [2] Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, Anhui 230032, China [3] State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, Anhui 230032, China [4] Key Lab of Dermatology, Ministry of Education, Hefei, Anhui 230032, China [5] Key Lab of Gene Resources Utilization for Severe Inherited Disorders, Anhui 230032, China.
authors: Sen
authors: S
authors: Yang
authors: 1] 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.
authors: Xuejun
authors: X
authors: Zhang
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D055233:Cornified Envelope Proline-Rich Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D020672:I-kappa B Proteins / Q000235:genetics; D000072179:Interleukin-1 Receptor-Like 1 Protein; D053762:Interleukin-12 Subunit p40 / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens; D000072000:NF-KappaB Inhibitor alpha; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D017471:Receptors, Interferon / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D055815:Young Adult
chemical_list: C410167:AIM2 protein, human; C570280:AP5B1 protein, human; D033942:Adaptor Proteins, Vesicular Transport; C095550:CASR protein, human; D055233:Cornified Envelope Proline-Rich Proteins; D004268:DNA-Binding Proteins; D020672:I-kappa B Proteins; C086185:IFNGR2 protein, human; C500879:IL12B protein, human; C079241:IL1RL1 protein, human; D000072179:Interleukin-1 Receptor-Like 1 Protein; D053762:Interleukin-12 Subunit p40; D047908:Intracellular Signaling Peptides and Proteins; C524769:LCE3D protein, human; D008565:Membrane Proteins; D008840:Microfilament Proteins; D015778:Minor Histocompatibility Antigens; C000606204:NFKBIA protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D017471:Receptors, Interferon; C088203:SON protein, human; C485904:SYNE2 protein, human; C470314:TMC6 protein, human; C117046:TNIP1 protein, human; D015534:Trans-Activators; C114253:ZNF143 protein, human; D000072000:NF-KappaB Inhibitor alpha; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C116420:ZFYVE16 protein, human; D012697:Serine Endopeptidases