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Associations with HLA<\/jats:styled-content> molecules have been suggested, but specific HLA<\/jats:styled-content> risk variants as well as non\u2010HLA<\/jats:styled-content> risk variants remain to be discovered.<\/jats:p><\/jats:sec>Methods<\/jats:title>We performed a two\u2010stage genome\u2010wide association study in the Chinese Han population through a genome\u2010wide discovery analysis and follow\u2010up validation analysis in a total number of 210 PV<\/jats:styled-content>, 159 PF<\/jats:styled-content> and 2493 healthy controls. HLA<\/jats:styled-content> imputation as well as high coverage next generation sequencing based HLA<\/jats:styled-content> genotyping was employed to investigate the association of classical HLA<\/jats:styled-content> alleles and amino acid change.<\/jats:p><\/jats:sec>Results<\/jats:title>We have discovered independent novel associations with PF<\/jats:styled-content> at rs2178077 on 12q24.33, located next to RAN<\/jats:styled-content><\/jats:italic> (P<\/jats:italic>PF<\/jats:sub><\/jats:styled-content> = 1.57 \u00d7 10\u22129<\/jats:sup>) and rs3888722 within the MHC<\/jats:styled-content> region (P<\/jats:italic> = 6.73 \u00d7 10\u22129<\/jats:sup>). For the HLA<\/jats:styled-content> variants, we confirmed independent genome\u2010wide level risk associations in HLA<\/jats:styled-content>\u2010DQB<\/jats:styled-content>1<\/jats:italic> and HLA<\/jats:styled-content>\u2010DRB<\/jats:styled-content>1<\/jats:italic>, with DQB<\/jats:styled-content>1*05:03<\/jats:italic> to be the strongest association with PV<\/jats:styled-content> (P<\/jats:italic> = 8.59 \u00d7 10\u221268<\/jats:sup>, OR<\/jats:styled-content> = 31.16) and PF<\/jats:styled-content> (P<\/jats:italic> = 4.84 \u00d7 10\u221217<\/jats:sup>, OR<\/jats:styled-content> = 5.64). In addition, DRB<\/jats:styled-content>1*14<\/jats:italic> was demonstrated to be a second independent variants (P<\/jats:italic> = 4.2 \u00d7 10\u221263<\/jats:sup>, OR<\/jats:styled-content> = 35.47) for PV<\/jats:styled-content>, while DRB<\/jats:styled-content>1*04:06<\/jats:italic> was demonstrated to be the second independent signal (P<\/jats:italic> = 7.44 \u00d7 10\u221213<\/jats:sup>, OR<\/jats:styled-content> = 5.58) for PF<\/jats:styled-content>.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>These findings advance our understanding of the genetic basis of pemphigus susceptibility and may offer opportunities for risk prediction and preventive treatment for pemphigus, in particular for PV<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.15227","type":"journal-article","created":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T16:25:31Z","timestamp":1535732731000},"page":"410-415","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Investigation of the predisposing factor of pemphigus and its clinical subtype through a genome\u2010wide association and next generation sequence analysis"],"prefix":"10.1111","volume":"33","author":[{"given":"Y.","family":"Sun","sequence":"first","affiliation":[{"name":"Shandong Provincial Institute of Dermatology and Venereology Shandong Academy of Medical Sciences Jinan Shandong China"},{"name":"Shandong Provincial Hospital for Skin Diseases Shandong University Jinan Shandong China"},{"name":"School of Medicine and Life Science University of Jinan\u2010Shandong Academy of Medical Sciences Jinan Shandong China"},{"name":"Shandong Provincial Key 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