HLA diversity in Saudi population : high frequency of homozygous HLA alleles and haplotypes
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Date
Authors
Chentoufi, Aziz Alami
Uyar, F. Aytul
Chentouf, Hiba A.
Alzahrani, Khalid
Paz, Maria
Bahnassy, Ahmed
Elyamany, Ghaleb
Elghazaly, Assem
Journal Title
Journal ISSN
Volume Title
Publisher
Frontiers Media S.A.
Abstract
Human leukocyte antigens (HLA) diversity has a tremendous impact on shaping the
transplantation practices, transfusion-associated graft versus host disease prevention
strategies, and host–pathogen interactions. Here, we conducted a retrospective study of
HLA class I and class II homozygosity at allelic and haplotype levels in unrelated individuals
genotyped from 2012 to 2016 in a tertiary hospital in the capital of Saudi Arabia. Among
5,000 individuals, 2,773 individuals meet inclusion criteria and were retrospectively
analyzed for HLA-A, -B, -C–DRB1, and -DQB1 homozygosity at allelic and haplotype
levels. HLA molecular typing was performed using a commercial reverse sequencespecific oligonucleotide (rSSO) kit. We were able to identify 15 HLA-A, 20 HLA-B,
11 HLA-C, 13 HLA-DRB1, and five HLA-DQB1 homozygous alleles demonstrating a
very low genetic diversity in the Saudi population. The highest homozygosity in HLA class I
was found in locus C followed by A and B (20.3% > 16.1% > 15.5%; p < 0.001) where the
most homozygote alleles were A*02 (9.2%), B*51 and B*50 (5.7% and 3.7%), and C*07,
C*06, and C*15 (7.2%, 5.48%, and 3.3%) and in HLA class II, the highest homozygosity
was found in locus DQB1 compared to DRB1 (31.71% > 19.2%; p < 0.001), with the most
common homozygote alleles being DRB1*07 and DRB1*04 (5.33% and 4.2%) and
DQB1*02, DQB1*06, and DQB1*03 (13.55%, 7.92%, and 7.64%). The frequency of
finding an individual with one homozygote allele was (24.6%), two homozygote alleles
(13.5%), three homozygote alleles (4.7%), four homozygote alleles (3.4%), and five alleles
were (4.8%). The most frequent homozygote haplotypes are
A*23~C*06~B*50~DRB1*07~DQB1*02 and A*02~C*06~B*50~DRB1*07~DQB1*02.
This study shows low diversity of both class I and II alleles and haplotypes in the
Saudi population, which would have a significant impact on shaping the
transplantation practices, transfusion-associated graft versus host disease prevention
strategies, and host–pathogen interactions.
Description
Keywords
Genetic diversity, Allele frequency, Allele and haplotype homozygosity, Human leukocyte antigens (HLA), Transfusion-associated-graft versus host disease (TA-GVHD)
Sustainable Development Goals
Citation
Chentoufi, A.A., Uyar, F.A., Chentoufi, H.A., Alzahrani, .K, Paz, M., Bahnassy, A., Elyamany, G. & Elghazaly, A. (2022) HLA Diversity in Saudi Population: High
Frequency of Homozygous HLA Alleles
and Haplotypes. Frontiers in Genetics 13:898235.
doi: 10.3389/fgene.2022.898235.