PMID- 33753913 OWN - NLM STAT- MEDLINE DCOM- 20220316 LR - 20230131 IS - 1476-5438 (Electronic) IS - 1018-4813 (Print) IS - 1018-4813 (Linking) VI - 29 IP - 8 DP - 2021 Aug TI - Analysis of HLA gene polymorphisms in East Africans reveals evidence of gene flow in two Semitic populations from Sudan. PG - 1259-1271 LID - 10.1038/s41431-021-00845-6 [doi] AB - Sudan, a northeastern African country, is characterized by high levels of cultural, linguistic, and genetic diversity, which is believed to be affected by continuous migration from neighboring countries. Consistent with such demographic effect, genome-wide SNP data revealed a shared ancestral component among Sudanese Afro-Asiatic speaking groups and non-African populations, mainly from West Asia. Although this component is shared among all Afro-Asiatic speaking groups, the extent of this sharing in Semitic groups, such as Sudanese Arab, is still unknown. Using genotypes of six polymorphic human leukocyte antigen (HLA) genes (i.e., HLA-A, -C, -B, -DRB1, -DQB1, and -DPB1), we examined the genetic structure of eight East African ethnic groups with origins in Sudan, South Sudan, and Ethiopia. We identified informative HLA alleles using principal component analysis, which revealed that the two Semitic groups (Gaalien and Shokrya) constituted a distinct cluster from the other Afro-Asiatic speaking groups in this study. The HLA alleles that distinguished Semitic Arabs co-exist in the same extended HLA haplotype, and those alleles are in strong linkage disequilibrium. Interestingly, we find the four-locus haplotype "C*12:02-B*52:01-DRB1*15:02-DQB1*06:01" exclusively in non-African populations and it is widely spread across Asia. The identification of this haplotype suggests a gene flow from Asia, and likely these haplotypes were brought to Africa through back migration from the Near East. These findings will be of interest to biomedical and anthropological studies that examine the demographic history of northeast Africa. CI - (c) 2021. The Author(s), under exclusive licence to European Society of Human Genetics. FAU - Aamer, Waleed AU - Aamer W AUID- ORCID: 0000-0002-1324-3509 AD - Human Genetics Laboratory, Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan. AD - Department of Genetics, The Graduate University for Advanced Studies, SOKENDAI, Mishima, Shizuoka, Japan. AD - Human Genetics Department, Precision Medicine Program, Research Branch, Sidra Medicine, Doha, Qatar. FAU - Hassan, Hisham Y AU - Hassan HY AD - Banoon ART and Cytogenetics Centre, Bahrain Defence Force Hospital, Riffa, Kingdom of Bahrain. FAU - Nakaoka, Hirofumi AU - Nakaoka H AUID- ORCID: 0000-0002-8454-1159 AD - Human Genetics Laboratory, Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan. AD - Department of Genetics, The Graduate University for Advanced Studies, SOKENDAI, Mishima, Shizuoka, Japan. AD - Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Chiyoda-ku, Tokyo, Japan. FAU - Hosomichi, Kazuyoshi AU - Hosomichi K AUID- ORCID: 0000-0003-2712-1825 AD - Department of Bioinformatics and Genomics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan. FAU - Jaeger, Martin AU - Jaeger M AD - Department of Internal Medicine and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. FAU - Tahir, Hanan AU - Tahir H AD - Public and Tropical Health Programmes, University of Medical Sciences and Technology, Khartoum, Sudan. FAU - Abdelraheem, Mohammed H AU - Abdelraheem MH AD - Department of Microbiology and Immunology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. FAU - Netea, Mihai G AU - Netea MG AUID- ORCID: 0000-0003-2421-6052 AD - Department of Internal Medicine and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. AD - Department for Genomics & Immunoregulation, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany. FAU - Inoue, Ituro AU - Inoue I AD - Human Genetics Laboratory, Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan. itinoue@nig.ac.jp. AD - Department of Genetics, The Graduate University for Advanced Studies, SOKENDAI, Mishima, Shizuoka, Japan. itinoue@nig.ac.jp. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20210322 PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 RN - 0 (HLA-D Antigens) SB - IM MH - Arabs/genetics MH - Asian People/genetics MH - Black People/genetics MH - *Gene Flow MH - Gene Frequency MH - HLA-D Antigens/*genetics MH - Human Migration MH - Humans MH - *Polymorphism, Single Nucleotide MH - Sudan PMC - PMC8384866 COIS- The authors declare no competing interests. EDAT- 2021/03/24 06:00 MHDA- 2022/03/17 06:00 PMCR- 2022/08/01 CRDT- 2021/03/23 06:51 PHST- 2020/06/27 00:00 [received] PHST- 2021/02/25 00:00 [accepted] PHST- 2020/11/28 00:00 [revised] PHST- 2021/03/24 06:00 [pubmed] PHST- 2022/03/17 06:00 [medline] PHST- 2021/03/23 06:51 [entrez] PHST- 2022/08/01 00:00 [pmc-release] AID - 10.1038/s41431-021-00845-6 [pii] AID - 845 [pii] AID - 10.1038/s41431-021-00845-6 [doi] PST - ppublish SO - Eur J Hum Genet. 2021 Aug;29(8):1259-1271. doi: 10.1038/s41431-021-00845-6. Epub 2021 Mar 22.