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Therefore, we hypothesized that there may be a potential genetic correlation between BP and DM. Based on data for 312 BP patients, 128 DM patients, and 6793 healthy control subjects, in the MHC region, we imputed single\u2010nucleotide polymorphisms (SNP), insertions and deletions (INDEL), and copy number variations (CNV) using the 1KGP phase 3 dataset and amino acids (AA) and SNP using a Han\u2010MHC reference database. An association study revealed the most significant SNP associated with BP, namely, rs580921 (<jats:italic>p<\/jats:italic>\u00a0=\u00a01.06E\u201008, odds ratio [OR]\u00a0=\u00a01.61, 95% confidence interval [CI]\u00a0=\u00a01.37\u20131.90), which is located in the C6orf10 gene, and the most significant classic human leukocyte antigen (HLA) allele associated with DM, namely, HLA\u2010DPB1*1701 (<jats:italic>p<\/jats:italic>\u00a0=\u00a06.56E\u201010, OR\u00a0=\u00a03.61, 95% CI\u00a0=\u00a02.40\u20135.42). Further stepwise regression analyses with rs580921 identified a threonine at position 163 of the HLA\u2010B gene as a new independent disease\u2010associated AA, and HLA\u2010DPB1*1701 indicated that no loci were significant. Three\u2010dimensional ribbon models revealed that the HLA\u2010B AA position 163 (<jats:italic>p<\/jats:italic>\u00a0=\u00a03.93E\u201007, OR\u00a0=\u00a01.64, 95% CI\u00a0=\u00a01.35\u20131.98) located in the \u03b12 domain of the HLA\u2010B molecule was involved in the process of specific antigen presentation. The calculations showed that there was no significant genetic correlation between BP and DM. Our study identified three significant loci in the MHC region, proving that the HLA region was significantly correlated with BP and DM separately. Our research highlights the key role of the MHC region in disease susceptibility.<\/jats:p>","DOI":"10.1111\/1346-8138.16499","type":"journal-article","created":{"date-parts":[[2022,6,25]],"date-time":"2022-06-25T11:09:38Z","timestamp":1656155378000},"page":"998-1004","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Imputation of the major histocompatibility complex region identifies major independent variants associated with bullous pemphigoid and dermatomyositis in Han Chinese"],"prefix":"10.1111","volume":"49","author":[{"given":"Wencheng","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Anhui Medical University  Hefei China"},{"name":"Key Laboratory of Dermatology (Anhui Medical University) Ministry of Education  Hefei China"},{"name":"Anhui Province Laboratory of Inflammation and Immune Mediated Diseases  Hefei China"},{"name":"Anhui Provincial 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