{"doi":"10.1016/j.jid.2021.01.017","title":"Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany","abstract":"Psoriasis is a common inflammatory skin disorder with a strong impact on patients’ QOL. The most common psoriasis form, psoriasis vulgaris (PsV), is characterized by demarcated, erythematous, raised plaques along with silvery scales. Up to 30% of patients with PsV develop an inflammatory joint disease named psoriatic arthritis (PsA) (Mease et al., 2013Mease P.J. Gladman D.D. Papp K.A. Khraishi M.M. Thaçi D. Behrens F. et al.Prevalence of rheumatologist-diagnosed psoriatic arthritis in patients with psoriasis in European/North American dermatology clinics.J Am Acad Dermatol. 2013; 69: 729-735Abstract Full Text Full Text PDF PubMed Scopus (272) Google Scholar; Reich et al., 2009Reich K. Krüger K. Mössner R. Augustin M. Epidemiology and clinical pattern of psoriatic arthritis in Germany: a prospective interdisciplinary epidemiological study of 1511 patients with plaque-type psoriasis.Br J Dermatol. 2009; 160: 1040-1047Crossref PubMed Scopus (273) Google Scholar). PsV and PsA are genetically complex diseases with >65 susceptibility loci identified in one or both psoriatic subtypes (Tsoi et al., 2017Tsoi L.C. Stuart P.E. Tian C. Gudjonsson J.E. Das S. Zawistowski M. et al.Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants.Nat Commun. 2017; 8: 15382Crossref PubMed Scopus (125) Google Scholar). In contrast to PsV and PsA, pustular psoriatic subtypes—palmoplantar pustular psoriasis or palmoplantar pustulosis (PPP) and generalized pustular psoriasis (GPP)—are rarer. PPP is characterized by localized epidermal neutrophil pustules, whereas more generalized pustules in severe multisystemic inflammation are typical for GPP. The genetic etiology of PPP is unsolved; discrepant results related to association with IL36RN (encoding the IL-36 receptor antagonist) variants were reported in British patients (Twelves et al., 2019Twelves S. Mostafa A. Dand N. Burri E. Farkas K. Wilson R. et al.Clinical and genetic differences between pustular psoriasis subtypes.J Allergy Clin Immunol. 2019; 143: 1021-1026Abstract Full Text Full Text PDF PubMed Scopus (63) Google Scholar) versus in German and Estonian patients (Mössner et al., 2018Mössner R. Wilsmann-Theis D. Oji V. Gkogkolou P. Löhr S. Schulz P. et al.The genetic basis for most patients with pustular skin disease remains elusive.Br J Dermatol. 2018; 178: 740-748Crossref PubMed Scopus (43) Google Scholar). Conversely, IL36RN has been acknowledged as a major gene for GPP (Marrakchi et al., 2011Marrakchi S. Guigue P. Renshaw B.R. Puel A. Pei X.Y. Fraitag S. et al.Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.N Engl J Med. 2011; 365: 620-628Crossref PubMed Scopus (623) Google Scholar), although further factors contribute to the pathogenesis of GPP, and oligogenic inheritance is discussed (Mössner et al., 2018Mössner R. Wilsmann-Theis D. Oji V. Gkogkolou P. Löhr S. Schulz P. et al.The genetic basis for most patients with pustular skin disease remains elusive.Br J Dermatol. 2018; 178: 740-748Crossref PubMed Scopus (43) Google Scholar). Patients diagnosed with syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis exhibit different combinations of inflammatory skin and bone diseases considerably overlapping with common psoriatic subtypes and pustular psoriasis; the genetic basis of syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis is largely unknown. Recently, we and others identified MPO as an additional major susceptibility gene in GPP (Haskamp et al., 2020Haskamp S. Bruns H. Hahn M. Hoffmann M. Gregor A. Löhr S. et al.Myeloperoxidase modulates inflammation in generalized pustular psoriasis and additional rare pustular skin diseases.Am J Hum Genet. 2020; 107: 527-538Abstract Full Text Full Text PDF PubMed Scopus (14) Google Scholar; Vergnano et al., 2020Vergnano M. Mockenhaupt M. Benzian-Olsson N. Paulmann M. Grys K. Mahil S.K. et al.Loss-of-function myeloperoxidase mutations are associated with i","journal":"Journal of Investigative Dermatology","year":2021,"id":210625,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9569,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":799107,"name":"J Horowitz","orcid":"0000-0002-4456-6984","position":1,"is_corresponding":false},{"id":799108,"name":"Vinzenz Oji","orcid":"0000-0003-1380-4828","position":2,"is_corresponding":false},{"id":799109,"name":"Sandra Philipp","orcid":"0000-0002-9421-5461","position":3,"is_corresponding":false},{"id":799110,"name":"Michael Sticherling","orcid":"0000-0001-9396-3938","position":4,"is_corresponding":false},{"id":799111,"name":"Knut Schäkel","orcid":"0000-0001-6344-7799","position":5,"is_corresponding":false},{"id":588845,"name":"Sarah Schuhmann","orcid":"0000-0002-6775-3547","position":6,"is_corresponding":false},{"id":799112,"name":"Jörg C. Prinz","orcid":"0000-0002-8857-5495","position":7,"is_corresponding":false},{"id":799113,"name":"Harald Burkhardt","orcid":"0000-0002-6261-3131","position":8,"is_corresponding":false},{"id":799114,"name":"Frank Behrens","orcid":"0000-0001-8750-7186","position":9,"is_corresponding":false},{"id":799115,"name":"Beate Böhm","orcid":"0000-0001-5823-1184","position":10,"is_corresponding":false},{"id":799116,"name":"Michaela Köhm","orcid":"0000-0002-3579-5574","position":11,"is_corresponding":false},{"id":799117,"name":"Jürgen Rech","orcid":"0000-0002-2569-2029","position":12,"is_corresponding":false},{"id":799118,"name":"David Simón","orcid":"0000-0001-8310-7820","position":13,"is_corresponding":false},{"id":292383,"name":"Georg Schett","orcid":"0000-0001-8740-9615","position":14,"is_corresponding":false},{"id":799617,"name":"Kirsten Steinz","orcid":null,"position":15,"is_corresponding":false},{"id":799119,"name":"Sascha Gerdes","orcid":"0000-0002-6667-7757","position":16,"is_corresponding":false},{"id":799120,"name":"G. Aßmann","orcid":"0000-0002-3216-9340","position":17,"is_corresponding":false},{"id":799121,"name":"Ali Nimeh","orcid":"0000-0003-0912-4758","position":18,"is_corresponding":false},{"id":799122,"name":"Volker Schuster","orcid":"0000-0001-5735-1838","position":19,"is_corresponding":false},{"id":799123,"name":"Arnd Jacobi","orcid":"0000-0002-0684-3426","position":20,"is_corresponding":false},{"id":799124,"name":"Ansgar Weyergraf","orcid":"0000-0001-5221-2492","position":21,"is_corresponding":false},{"id":558892,"name":"André Reis","orcid":"0000-0002-6301-6363","position":22,"is_corresponding":false},{"id":555847,"name":"Steffen Uebe","orcid":"0000-0002-4819-7637","position":23,"is_corresponding":false},{"id":799125,"name":"Dagmar Wilsmann‐Theis","orcid":"0000-0002-5594-7192","position":24,"is_corresponding":false},{"id":799126,"name":"Rotraut Mößner","orcid":"0000-0003-2476-7647","position":25,"is_corresponding":false},{"id":799127,"name":"Ulrike Hüffmeier","orcid":"0000-0001-6448-4671","position":26,"is_corresponding":false},{"id":799106,"name":"Stefan Haskamp","orcid":"0000-0003-3760-9074","position":0,"is_corresponding":true}],"reference_count":12,"raw_metadata":null,"created_at":"2026-07-18T23:52:12.491146Z","pmid":"33609556","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}