{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:00:14Z","timestamp":1768564814931,"version":"3.49.0"},"posted":{"date-parts":[[2023,3,20]]},"group-title":"Genetic and Genomic Medicine","reference-count":71,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2023,3,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  The human leukocyte antigen (HLA) locus plays a critical role in complex traits spanning autoimmune and infectious diseases, transplantation, and cancer. While coding variation in\n                  <jats:italic>HLA<\/jats:italic>\n                  genes has been extensively documented, regulatory genetic variation modulating\n                  <jats:italic>HLA<\/jats:italic>\n                  expression levels has not been comprehensively investigated. Here, we mapped expression quantitative trait loci (eQTLs) for classical\n                  <jats:italic>HLA<\/jats:italic>\n                  genes across 1,073 individuals and 1,131,414 single cells from three tissues, using personalized reference genomes to mitigate technical confounding. We identified cell-type-specific\n                  <jats:italic>cis-<\/jats:italic>\n                  eQTLs for every classical\n                  <jats:italic>HLA<\/jats:italic>\n                  gene. Modeling eQTLs at single-cell resolution revealed that many eQTL effects are dynamic across cell states even within a cell type.\n                  <jats:italic>HLA-DQ<\/jats:italic>\n                  genes exhibit particularly cell-state-dependent effects within myeloid, B, and T cells. Dynamic\n                  <jats:italic>HLA<\/jats:italic>\n                  regulation may underlie important interindividual variability in immune responses.\n                <\/jats:p>","DOI":"10.1101\/2023.03.14.23287257","type":"posted-content","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T15:10:41Z","timestamp":1679325041000},"source":"Crossref","is-referenced-by-count":10,"title":["Mapping the dynamic genetic regulatory architecture of\n                  <i>HLA<\/i>\n                  genes at single-cell resolution"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1962-1291","authenticated-orcid":false,"given":"Joyce B.","family":"Kang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8050-0851","authenticated-orcid":false,"given":"Amber Z.","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3618-9717","authenticated-orcid":false,"given":"Saori","family":"Sakaue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7385-6166","authenticated-orcid":false,"given":"Yang","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saisriram","family":"Gurajala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5975-2851","authenticated-orcid":false,"given":"Aparna","family":"Nathan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5522-3402","authenticated-orcid":false,"given":"Laurie","family":"Rumker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vitor R. 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