Aim A comprehensive characterization of the HLA allelic diversity of ethnically diverse populations of African ancestry from sub-Saharan Africa (SSA) has been attempted. Methods DNA was isolated from whole blood of 520 volunteers from 12 ethnically diverse populations in Botswana, Cameroon, Ethiopia and Tanzania. All individuals were sampled from rural communities and known to practice traditional subsistence lifestyles (hunter-gathering, agro-pastoralism or pastoralism). Current analysis is part of a larger study (N = 3000) aimed to document genomic variation, population history, natural selection and genetic/environmental risk factors associated with diabetes, hypertension and infectious disease in African descent populations. In this preliminary study, 231 unrelated individuals were fully characterized at 11 HLA loci by next generation sequencing-based (Holotype, OMIXON) third-field resolution HLA typing. Results Among the 231 individuals, 291 HLA alleles were identified: 42 HLA-A, 52 HLA-B, 36 HLA-C, 22 HLA-DPA1, 47 HLA-DPB1, 20 HLA-DQA1, 26 HLA-DQB1, 31 HLA-DRB1, 7 HLA-DRB3, 5 HLA-DRB4 and 3 HLA-DRB5. These 291 alleles included 31 (11%) novel alleles (6 synonymous and 25 non-synonymous) and 260 (89%) previously described alleles. The populations from Eastern Africa carried the highest number of new alleles (n = 16) compared to Southern (n = 10) and Central (n = 8) Africa. Conclusions This study has identified 260 known and 31 previously unknown HLA allele sequences in just 231 unrelated individuals from 12 distinct populations in SSA. These 31 previously uncharacterized alleles were quite frequent in these populations. These data provide critical information potentially enriching our understanding of the evolution of HLA polymorphisms in Africa and the role they may play in health and disease.
HLA types in ethnically diverse sub-saharan african populations / Mbunwe, E; Duke, Jl; Ferriola, D; Mosbruger, T; Damianos, G; Dinou, A; Kotsopoulou, ; Ranciaro, A; Thompson, S; Beggs, W; Mpoloka, Sw; Mokone, Gg; Nyambo, T; Meskel, Dw; Belay, G; Fokunang, C; Njamnshi, Ak; Carrington, M; Maiers, M; Tishkoff, Sa; Monos, Ds. - In: HUMAN IMMUNOLOGY. - ISSN 0198-8859. - 80(supplement_1):(2019), pp. 105-105. ( American-Society-for-Histocompatibility-and-Immunogenetics (ASHI)/BANFF Joint Scientific Meeting Pittsburgh, PA ) [https://doi.org/10.1016/j.humimm.2019.07.125].
HLA types in ethnically diverse sub-saharan african populations
Ranciaro A;
2019
Abstract
Aim A comprehensive characterization of the HLA allelic diversity of ethnically diverse populations of African ancestry from sub-Saharan Africa (SSA) has been attempted. Methods DNA was isolated from whole blood of 520 volunteers from 12 ethnically diverse populations in Botswana, Cameroon, Ethiopia and Tanzania. All individuals were sampled from rural communities and known to practice traditional subsistence lifestyles (hunter-gathering, agro-pastoralism or pastoralism). Current analysis is part of a larger study (N = 3000) aimed to document genomic variation, population history, natural selection and genetic/environmental risk factors associated with diabetes, hypertension and infectious disease in African descent populations. In this preliminary study, 231 unrelated individuals were fully characterized at 11 HLA loci by next generation sequencing-based (Holotype, OMIXON) third-field resolution HLA typing. Results Among the 231 individuals, 291 HLA alleles were identified: 42 HLA-A, 52 HLA-B, 36 HLA-C, 22 HLA-DPA1, 47 HLA-DPB1, 20 HLA-DQA1, 26 HLA-DQB1, 31 HLA-DRB1, 7 HLA-DRB3, 5 HLA-DRB4 and 3 HLA-DRB5. These 291 alleles included 31 (11%) novel alleles (6 synonymous and 25 non-synonymous) and 260 (89%) previously described alleles. The populations from Eastern Africa carried the highest number of new alleles (n = 16) compared to Southern (n = 10) and Central (n = 8) Africa. Conclusions This study has identified 260 known and 31 previously unknown HLA allele sequences in just 231 unrelated individuals from 12 distinct populations in SSA. These 31 previously uncharacterized alleles were quite frequent in these populations. These data provide critical information potentially enriching our understanding of the evolution of HLA polymorphisms in Africa and the role they may play in health and disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
