Joyce B Kang, Amber Z Shen, Saisriram Gurajala, Aparna Nathan, Laurie Rumker, Vitor R C Aguiar, Cristian Valencia, Kaitlyn A Lagattuta, Fan Zhang, Anna Helena Jonsson, Seyhan Yazar, Jose Alquicira-Hernandez, Hamed Khalili, Ashwin N Ananthakrishnan, Karthik Jagadeesh, Kushal Dey, Mark J Daly, Ramnik J Xavier, Laura T Donlin, Jennifer H Anolik, Joseph E Powell, Deepak A Rao, Michael B Brenner, Maria Gutierrez-Arcelus, Yang Luo, Saori Sakaue, Soumya Raychaudhuri
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 HLA genes has been extensively documented, regulatory genetic variation modulating HLA expression levels has not been comprehensively investigated. Here we mapped expression quantitative trait loci (eQTLs) for classical HLA genes across 1,073 individuals and 1,131,414 single cells from three tissues. To mitigate technical confounding, we developed scHLApers, a pipeline to accurately quantify single-cell HLA expression using personalized reference genomes...
November 30, 2023: Nature Genetics