Chentoufi Aziz Alami, Uyar F Aytül, Chentoufi Hiba A, Alzahrani Khalid, Paz Maria, Bahnassy Ahmed, Elyamany Ghaleb, Elghazaly Assem
King Fahad Medical City, Riyadh, Saudi Arabia.
Department of Medical Microbiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Front Genet. 2022 Jun 9;13:898235. doi: 10.3389/fgene.2022.898235. eCollection 2022.
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 sequence-specific 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%; < 0.001) where the most homozygote alleles were A02 (9.2%), B51 and B50 (5.7% and 3.7%), and C07, C06, 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%; < 0.001), with the most common homozygote alleles being DRB107 and DRB104 (5.33% and 4.2%) and DQB102, DQB106, and DQB103 (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 A23∼C06∼B50∼DRB107∼DQB102 and A02∼C06∼B50∼DRB107∼DQB102. 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.
人类白细胞抗原（HLA）多样性对移植实践、输血相关移植物抗宿主病预防策略以及宿主与病原体的相互作用有着巨大影响。在此，我们对2012年至2016年在沙特阿拉伯首都一家三级医院进行基因分型的无关个体的HLA I类和II类等位基因及单倍型水平的纯合性进行了回顾性研究。在5000名个体中，2773名个体符合纳入标准，并对其HLA - A、-B、-C、-DRB1和-DQB1等位基因及单倍型水平的纯合性进行了回顾性分析。使用商业反向序列特异性寡核苷酸（rSSO）试剂盒进行HLA分子分型。我们能够鉴定出15个HLA - A、20个HLA - B、11个HLA - C、13个HLA - DRB1和5个HLA - DQB1纯合等位基因，表明沙特人群的遗传多样性非常低。HLA I类中纯合性最高的位点是C，其次是A和B（20.3% > 16.1% > 15.5%；P < 0.001），其中最常见的纯合等位基因是A02（9.2%）、B51和B50（5.7%和3.7%）以及C07、C06和C*15（7.2%、5.48%和3.3%）；在HLA II类中，DQB1位点的纯合性高于DRB1（31.71% > 19.2%；P < 0.001），最常见的纯合等位基因是DRB107和DRB104（5.33%和4.2%）以及DQB102、DQB106和DQB103（13.55%、7.92%和7.64%）。发现拥有一个纯合等位基因个体的频率为（24.6%），两个纯合等位基因（13.5%），三个纯合等位基因（4.7%），四个纯合等位基因（3.4%），五个纯合等位基因（4.8%）。最常见的纯合单倍型是A23∼C06∼B50∼DRB107∼DQB102和A02∼C06∼B50∼DRB107∼DQB102。这项研究表明沙特人群I类和II类等位基因及单倍型的多样性较低，这将对移植实践、输血相关移植物抗宿主病预防策略以及宿主与病原体的相互作用产生重大影响。
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