ArticleNature genetics2014
A large-scale screen for coding variants predisposing to psoriasis.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 6 of them syntheses that pooled it.
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106citing papers in PubMed, 6 pooled it
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Who cites it
106 citing papers in PubMed, 6 syntheses or guidelines pooled it, 216 citations in OpenAlex.
- Associations betweenBioMed research international · 2021Pooled it
- Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.Human molecular genetics · 2018Pooled it
- Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.Human molecular genetics · 2017Pooled it
- Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants.Nature communications · 2017Pooled it
- A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.Human molecular genetics · 2016Pooled it
- Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.Nature communications · 2015Pooled it
- A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China.BioMed research international · 2020Trial
- Molecular Signature and miRNA Pattern of CD4 + T Lymphocytes in Plaque Psoriasis.Clinical reviews in allergy & immunology · 2026Review
- Immunogenetics in psoriasis: towards personalised diagnosis and treatment strategies.Genes and immunity · 2026Review
- Synthetic Curcuminoids Combined with Blue-Light-Mediated Photodynamic Therapy for Anti-Inflammatory Effect and Potential Mechanism on Imiquimod-Induced Psoriasis-like Proliferation of Keratinocytes.International journal of molecular sciences · 2026Article
- Associations of plasma proteomic and polygenic profiling with incident psoriasis risk: a prospective cohort study.Journal of global health · 2026Article
- A new perspective on population genetics: Deciphering the relationship between genetic variants and disease prevalence in Psoriasis.PloS one · 2026Article
- Transcriptomic characterization of key psoriasis-associated genes based on single-cell RNA-seq and machine learning.PloS one · 2026Article
- Advances in Psoriasis Research: Decoding Immune Circuits and Developing Novel Therapies.International journal of molecular sciences · 2025Review
- Identification of novel IL17-related genes as prognostic and therapeutic biomarkers of psoriasis using comprehensive bioinformatics analysis and machine learning.Scientific reports · 2025Article
- Naturally derived bioactive compounds as precision modulators of immune and inflammatory mechanisms in psoriatic conditions.Inflammopharmacology · 2025Review
- High-coverage whole-genome sequencing of a Jakun individual from the "Orang Asli" Proto-Malay subtribe from Peninsular Malaysia.Human genome variation · 2025Article
- Psoriasis: Immunological and genetic blueprints driving pathogenesis and potential for personalized therapies.Iranian journal of basic medical sciences · 2025Review
- ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.Molecular genetics & genomic medicine · 2024Article
- An observational and genetic investigation into the association between psoriasis and risk of malignancy.Nature communications · 2024Observational
46 more citing papers are in PubMed but not listed here.
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Authors and funding
67 authors at 14 institutions in 2 countries.
Huayang Tang1] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2].
Xin Jin1] BGI-Shenzhen, Shenzhen, China. [2] School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China. [3].
Yang Li1] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2].
Hui Jiang1] BGI-Shenzhen, Shenzhen, China. [2].
Xianfa Tang1] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2].
Xu YangBGI-Shenzhen, Shenzhen, China.
Hui ChengDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Ying QiuDepartment of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
Gang ChenDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Junpu MeiBGI-Shenzhen, Shenzhen, China.
Fusheng ZhouDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Renhua WuBGI-Shenzhen, Shenzhen, China.
Xianbo ZuoDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Yong ZhangBGI-Shenzhen, Shenzhen, China.
Xiaodong ZhengDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Qi CaiDepartment of Dermatology, Second Hospital, Chengdu, China.
Xianyong YinDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Cheng QuanDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Haojing ShaoBGI-Shenzhen, Shenzhen, China.
Yong CuiDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Fangzhen TianDepartment of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
Xia ZhaoBGI-Shenzhen, Shenzhen, China.
Hong LiuShandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, China.
Fengli XiaoDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Fengping XuBGI-Shenzhen, Shenzhen, China.
Jianwen HanDepartment of Dermatology, Affiliated Hospital of Inner Mongolia Medical College, Huhehot, China.
Dongmei ShiDepartment of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
Anping ZhangDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Cheng ZhouDepartment of Dermatology, Peking University People's Hospital, Beijing, China.
Qibin LiBGI-Shenzhen, Shenzhen, China.
Xing FanDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Liya LinBGI-Shenzhen, Shenzhen, China.
Hongqing TianShandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, China.
Zaixing WangDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Huiling FuBGI-Shenzhen, Shenzhen, China.
Fang WangDepartment of Dermatology, Peking University People's Hospital, Beijing, China.
Baoqi YangShandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, China.
Shaowei HuangBGI-Shenzhen, Shenzhen, China.
Bo LiangDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Xuefeng XieBGI-Shenzhen, Shenzhen, China.
Yunqing RenDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Qingquan GuBGI-Shenzhen, Shenzhen, China.
Guangdong WenDepartment of Dermatology, Peking University People's Hospital, Beijing, China.
Yulin SunState Key Laboratory of Molecular Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College and Center of Basic Medical Sciences, Navy General Hospital, Beijing, China.
Xueli WuBGI-Shenzhen, Shenzhen, China.
Lin DangDepartment of Dermatology, Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Min XiaBGI-Shenzhen, Shenzhen, China.
Junjun ShanDepartment of Dermatology, Third People's Hospital of Hangzhou, Hangzhou, China.
Tianhang LiDepartment of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
Lin YangBGI-Shenzhen, Shenzhen, China.
Xiuyun ZhangDepartment of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
Yuzhen LiDepartment of Dermatology, Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Chundi HeDepartment of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
Aie XuDepartment of Dermatology, Third People's Hospital of Hangzhou, Hangzhou, China.
Liping WeiSchool of Life Sciences, Peking University, Beijing, China.
Xiaohang ZhaoState Key Laboratory of Molecular Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College and Center of Basic Medical Sciences, Navy General Hospital, Beijing, China.
Xinghua GaoDepartment of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
Jinhua XuDepartment of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
Furen ZhangShandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, China.
Jianzhong ZhangDepartment of Dermatology, Peking University People's Hospital, Beijing, China.
Yingrui LiBGI-Shenzhen, Shenzhen, China.
Liangdan SunDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Jianjun LiuDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Runsheng ChenInstitute of Biophysics of the Chinese Academy of Sciences, Beijing, China.
Sen YangDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
Jun Wang1] BGI-Shenzhen, Shenzhen, China. [2] Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark. [3] Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Xuejun Zhang1] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2] Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
BGI Group (China) · CNAnhui Medical University · CNJining First People's Hospital · CNPeking University · CNShandong Provincial Institute of Dermatology and Venereology · CNChina Medical University · CNThird People's Hospital of Hangzhou · CNChengdu Second People's Hospital · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNChinese Academy of Sciences · CNFudan University · CNHarbin Medical University · CNInner Mongolia Medical College Hospital · CNUniversity of Copenhagen · DK
Funding
No grant is acknowledged in the PubMed record.
Abstract
To explore the contribution of functional coding variants to psoriasis, we analyzed nonsynonymous single-nucleotide variants (SNVs) across the genome by exome sequencing in 781 psoriasis cases and 676 controls and through follow-up validation in 1,326 candidate genes by targeted sequencing in 9,946 psoriasis cases and 9,906 controls from the Chinese population. 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 at genome-wide significance. Rare missense SNVs in FUT2 and TARBP1 were also observed with suggestive evidence of association. Single-variant and gene-based association analyses of nonsynonymous SNVs did not identify newly associated genes for psoriasis in the regions subjected to targeted resequencing. This suggests that coding variants in the 1,326 targeted genes contribute only a limited fraction of the overall genetic risk for psoriasis.
Indexed as
Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAminopeptidasesAsian PeopleCARD Signaling Adaptor ProteinsCase-Control StudiesConnexin 26ConnexinsFemaleFucosyltransferasesGalactoside 2-alpha-L-fucosyltransferaseGenome-Wide Association StudyGuanylate CyclaseHaplotypesHumansAminopeptidasesCARD14 protein, humanCARD Signaling Adaptor ProteinsConnexin 26ConnexinsERAP1 protein, humanFucosyltransferasesGalactoside 2-alpha-L-fucosyltransferaseGJB2 protein, humanGuanylate CyclaseIL23R protein, humanMembrane ProteinsMinor Histocompatibility AntigensNuclear ProteinsReceptors, InterleukinRNA-Binding ProteinsTARBP1 protein, humanTrans-Activation Responsive RNA-Binding Protein
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