A registry‐based population study of the HLA in Québec, Canada

Article Article scientifique Article A registry‐based population study of the HLA in Québec, Canada eng 2023-07-13 2023-07-13 author Lemieux William 0000-0001-5684-9773 Medical Affairs & Innovation Héma‐Québec Montréal Quebec Canada author Richard Lisa Lucie Transfusion Medicine/Reference Laboratory Héma‐Québec Montréal Quebec Canada 919653 author Nunes Jose Manuel 0000-0001-7010-1382 Laboratory of Anthropology, Genetics and Peopling history, Department of Genetics and Evolution University of Geneva and Institute of Genetics and Genomics in Geneva (IGE3) Geneva Switzerland 122321 Département de génétique et évolution (Genev) (BIANI) author Sanchez-Mazas Alicia 0000-0002-7714-2432 Laboratory of Anthropology, Genetics and Peopling history, Department of Genetics and Evolution University of Geneva and Institute of Genetics and Genomics in Geneva (IGE3) Geneva Switzerland 22545 Département de génétique et évolution (Genev) (BIANI) author Renaud Christian Medical Affairs & Innovation Héma‐Québec Montréal Quebec Canada author Sapir‐Pichhadze Ruth 0000-0003-0745-004X Centre for Outcomes Research and Evaluation (CORE) Research Institute of McGill University Health Centre Montréal Quebec Canada author Lewin Antoine Medical Affairs & Innovation Héma‐Québec Montréal Quebec Canada 671-689 10.1111/tan.15154 37439270 2059-2302 https://onlinelibrary.wiley.com/doi/10.1111/tan.15154 <p>As part of the worldwide effort to better characterize HLA diversity in populations, we have studied the population of Québec in Canada. This province has been defined by a complex history with multiple founder effects and migration patterns. We analyzed the typing data of 3806 individuals registered in Héma‐Québec's Registry, which covered most administrative regions in Québec. Typing information was resolved at the second field level of resolution by next‐generation sequencing (NGS) or by Sanger sequencing. We used the HLA‐net.eu GENE[RATE] tools to estimate allele and two‐locus haplotype frequencies for HLA‐A, ‐B, ‐C, ‐DRB1, ‐DQB1, and ‐DPB1, as well as Hardy–Weinberg equilibrium (HWE), selective neutrality, and linkage disequilibrium. The chord genetic distance was also calculated between administrative regions and was visualized using non‐metric multidimensional scaling (NMDS) analysis. While most individual regions were in HWE, HWE was rejected for the province considered as a whole. Some regions exhibited signatures of selection, mostly toward an excess of heterozygotes. Allele and haplotype frequencies revealed outlier regions that strongly differed from the other regions. NMDS plots also showed differences between regions. The administrative regions of the province of Québec displayed heterogeneity in their HLA profiles. This heterogeneity was attributable to differing allele and haplotype specificities by region. In particular, regions 02‐Saguenay‐Lac‐Saint‐Jean and 01‐Bas‐St‐Laurent diverged from the rest of the regions. The urban regions 06‐Montréal and 13‐Laval were very diversified in their HLA profiles. Together, these results will help optimize donor recruitment strategies in Québec.</p> HLA population genetics Anthropology Histocompatibility Immunogenetics Stem cell transplantation Dewey 590 44 Département de génétique et évolution 162 false HLA 102 6 f9c90b7e-4e4e-457e-8a8c-ac274eab5c6e Article (Published version) Public SANCHEZ-MAZAS00.pdf 2551620 application/pdf CC BY-NC-4.0 ec7654afde4fdabe34762c01a3229f27d20ac8edc0c2f425e8a1adb230abb04f openAccess Faculté des sciences / Section de biologie / Département de génétique et évolution

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A registry‐based population study of the HLA in Québec, Canada	HLA			2023	66	82

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Richard, Lisa Lucie