title: Integration of expression quantitative trait loci and pleiotropy identifies a novel psoriasis susceptibility gene, PTPN1.
abstract: BACKGROUND
  Psoriasis is a common inflammatory skin disease, whereas schizophrenia is a psychiatric disorder with substantial comorbidity. Although these two disorders manifest with apparently unrelated phenotypes, there is some evidence suggesting that they share common genetic factors.
  
  
  METHODS
  We implemented a genetic analysis incorporating pleiotropy and annotation to genome-wide association summary statistics data for approximately 120 000 psoriasis and schizophrenia samples, as well as whole blood expression quantitative trait loci in 5311 samples.
  
  
  RESULTS
  We observed a significant pleiotropic effect between psoriasis and schizophrenia (p = 5.92 × 10-43). We characterized an enrichment of whole blood expression quantitative trait loci in genome-wide association data for psoriasis and schizophrenia (q1/q0> 1.5, p < 10-77) and we revealed that common variants for both diseases were more likely to confer expression quantitative trait loci effects (q1/q0= 4.197, SE = 0.183). Through joint analysis of the associations in the combined psoriasis and schizophrenia data set, we identified a potential susceptibility PTPN1 gene for psoriasis, which may affect the risk of psoriasis through modulation of the function of TYK2 kinase.
  
  
  CONCLUSIONS
  The results of the present study highlight the expression quantitative trait loci enrichment and pleiotropy in psoriasis and schizophrenia, and also suggest a possible key role of the PTPN1 gene in the etiology of psoriasis.
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.|Departments of Neurology and Genetics, Renaissance Computing Institute, University of North Carolina at Chapel Hill, NC, USA.
authors.forename: Xianyong
authors.initials: X
authors.lastname: Yin
authors.affiliation: Departments of Neurology and Genetics, Renaissance Computing Institute, University of North Carolina at Chapel Hill, NC, USA.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
authors.forename: Changbing
authors.initials: C
authors.lastname: Shen
authors.affiliation: Department of Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
authors.forename: Xianbo
authors.initials: X
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.|Department of Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Departments of Neurology and Genetics, Renaissance Computing Institute, University of North Carolina at Chapel Hill, NC, USA.
authors.forename: Kirk C
authors.initials: KC
authors.lastname: Wilhelmsen
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.|Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D019295:Computational Biology / Q000379:methods; D015870:Gene Expression; D056726:Genetic Association Studies; D058685:Genetic Pleiotropy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D023281:Genomics; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D025941:Protein Interaction Mapping; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1 / Q000235:genetics* / Q000378:metabolism; D011565:Psoriasis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D040641:Quantitative Trait Loci; D012559:Schizophrenia / Q000235:genetics; D015398:Signal Transduction
chemical_list: D006680:HLA Antigens; C516607:PTPN1 protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1
keywords: genome wide association study; pleiotropy; psoriasis; schizophrenia