PMID- 38337023 OWN - NLM STAT- MEDLINE DCOM- 20240214 LR - 20240214 IS - 2045-2322 (Electronic) IS - 2045-2322 (Linking) VI - 14 IP - 1 DP - 2024 Feb 9 TI - Investigating the genetic makeup of the major histocompatibility complex (MHC) in the United Arab Emirates population through next-generation sequencing. PG - 3392 LID - 10.1038/s41598-024-53986-1 [doi] LID - 3392 AB - The Human leukocyte antigen (HLA) molecules are central to immune response and have associations with the phenotypes of various diseases and induced drug toxicity. Further, the role of HLA molecules in presenting antigens significantly affects the transplantation outcome. The objective of this study was to examine the extent of the diversity of HLA alleles in the population of the United Arab Emirates (UAE) using Next-Generation Sequencing methodologies and encompassing a larger cohort of individuals. A cohort of 570 unrelated healthy citizens of the UAE volunteered to provide samples for Whole Genome Sequencing and Whole Exome Sequencing. The definition of the HLA alleles was achieved through the application of the bioinformatics tools, HLA-LA and xHLA. Subsequently, the findings from this study were compared with other local and international datasets. A broad range of HLA alleles in the UAE population, of which some were previously unreported, was identified. A comparison with other populations confirmed the current population's unique intertwined genetic heritage while highlighting similarities with populations from the Middle East region. Some disease-associated HLA alleles were detected at a frequency of > 5%, such as HLA-B*51:01, HLA-DRB1*03:01, HLA-DRB1*15:01, and HLA-DQB1*02:01. The increase in allele homozygosity, especially for HLA class I genes, was identified in samples with a higher level of genome-wide homozygosity. This highlights a possible effect of consanguinity on the HLA homozygosity. The HLA allele distribution in the UAE population showcases a unique profile, underscoring the need for tailored databases for traditional activities such as unrelated transplant matching and for newer initiatives in precision medicine based on specific populations. This research is part of a concerted effort to improve the knowledge base, particularly in the fields of transplant medicine and investigating disease associations as well as in understanding human migration patterns within the Arabian Peninsula and surrounding regions. CI - (c) 2024. The Author(s). FAU - Marzouka, Nour Al Dain AU - Marzouka NAD AD - Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. FAU - Alnaqbi, Halima AU - Alnaqbi H AD - Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. FAU - Al-Aamri, Amira AU - Al-Aamri A AD - Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. FAU - Tay, Guan AU - Tay G AD - Division of Psychiatry, Faculty of Health and Medical Sciences, Medical School, The University of Western Australia, Crawley, WA, Australia. AD - School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia. FAU - Alsafar, Habiba AU - Alsafar H AD - Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. Habiba.alsafar@ku.ac.ae. AD - College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. Habiba.alsafar@ku.ac.ae. AD - Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. Habiba.alsafar@ku.ac.ae. LA - eng PT - Journal Article DEP - 20240209 PL - England TA - Sci Rep JT - Scientific reports JID - 101563288 RN - 0 (Histocompatibility Antigens Class I) RN - 0 (Histocompatibility Antigens Class II) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Humans MH - United Arab Emirates MH - Gene Frequency MH - *Histocompatibility Antigens Class I/genetics MH - *Histocompatibility Antigens Class II/genetics MH - Major Histocompatibility Complex/genetics MH - High-Throughput Nucleotide Sequencing MH - Haplotypes MH - Alleles MH - HLA-DRB1 Chains/genetics PMC - PMC10858242 OTO - NOTNLM OT - Human leukocyte antigen (HLA) OT - Major histocompatibility complex (MHC) OT - Next generation sequencing (NGS) OT - United Arab Emirates (UAE) COIS- The authors declare no competing interests. EDAT- 2024/02/10 10:47 MHDA- 2024/02/10 22:54 PMCR- 2024/02/09 CRDT- 2024/02/10 00:00 PHST- 2023/11/26 00:00 [received] PHST- 2024/02/07 00:00 [accepted] PHST- 2024/02/10 22:54 [medline] PHST- 2024/02/10 10:47 [pubmed] PHST- 2024/02/10 00:00 [entrez] PHST- 2024/02/09 00:00 [pmc-release] AID - 10.1038/s41598-024-53986-1 [pii] AID - 53986 [pii] AID - 10.1038/s41598-024-53986-1 [doi] PST - epublish SO - Sci Rep. 2024 Feb 9;14(1):3392. doi: 10.1038/s41598-024-53986-1.