P072 HLA types in ethnically diverse sub-saharan african populations
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Date
2019-07
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Human Immunology
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 infec-
tious 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.
Disclosures: J.L. Duke:7. Other (Identify); Company/Organization; Royal Fees from OMIXON.D. Ferriola:7.
Other (Identify); Company/Organization; Royal Fees from OMIXON.D.S. Monos:2. Consultant; Company/Organiz
ation; OMIXON. 4. Scientific/Medical Advisor; Company/Organization; OMIXON. 7. Other (Identify);
Company/Organization; Royal Fees from OMIXON.
Description
Keywords
P072 HLA, Sub-saharan, African populations
Citation
Mbunwe, E., Duke, J.L., Ferriola, D., Mosbruger, T., Damianos, G., Dinou, A., Kotsopoulou, I., Ranciaro, A., Thompson, S., Beggs, W. and Mpoloka, S.W., 2019. P072 HLA types in ethnically diverse sub-saharan african populations. Human Immunology, 80, p.105.