HLA-A, -B, -C, -DRB1, and -DQB1 Allele Lineages and Haplotype Frequencies among Saudis

Osman, Awad E.; Gonzalez-Galarza, Faviel F.; Mubasher, Mohamed; Alharthi, Hanan; ElSheikh, N.E.; Berka, Noureddine; Middleton, Derek; ElGhazali, Gehad

doi:10.4137/iii.s16796

Cited by 4 publications

(1 citation statement)

References 22 publications

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“…This low frequency of diversity in the Saudi population would have a significant impact in shaping the transplantation practices, transfusion-associated graft versus host disease prevention strategies, host–pathogen interaction, and management of recessive mutation expression in the population. HLA class I and II allele frequency distribution in the Saudi population is of prominence in disease association studies, transfusion medicine practices, and vaccine development ( Ollier et al, 1985 ; Sheth et al, 1985 ; Jawdat et al, 2009 ; Al-Awwami et al, 2012 ; Jawdat et al, 2012 ; Hajeer et al, 2013 ; Osman et al, 2014 ). While many genetic studies of the diversity of different populations have been conducted, very few have analyzed HLA class I and class II allele homozygosity ( Gladman et al, 1986 ; Rohowsky-Kochan et al, 1998 ; Azurdia et al, 1999 ).…”

Section: Discussionmentioning

confidence: 99%

HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes

et al. 2022

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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%; 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.

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Section: Discussionmentioning

confidence: 99%

HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes

et al. 2022

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Association of HLA‐DR‐DQ alleles, haplotypes, and diplotypes with type 1 diabetes in Saudis

Eltayeb‐Elsheikh

Khalil

Mubasher

et al. 2020

Diabetes Metabolism Res

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Aims Type 1 diabetes (T1D) is an autoimmune disease that affects many children worldwide. Genetic factors and environmental triggers play crucial interacting roles in the aetiology. This study aimed to assess the contribution of HLA‐DRB1‐DQA1‐DQB1 alleles, haplotypes, and genotypes to the risk of T1D among Saudis. Methods A total of 222 children with T1D and 342 controls were genotyped for HLA‐DRB1, ‐DQA1, and ‐DQB1 using reverse sequence‐specific oligonucleotide (rSSO) Lab Type high definition (HD) kits. Alleles, haplotypes, and diplotypes were compared between cases and controls using the SAS statistical package. Results DRB1*03:01‐DQA1*05:01‐DQB1*02:01 (32.4%; OR = 3.68; Pc < .0001), DRB1*04:05‐DQA1*03:02‐DQB1*03:02 (6.6%; OR = 6.76; Pc < .0001), DRB1*04:02‐DQA1*03:01‐DQB1*03:02 (6.0%; OR = 3.10; Pc = .0194), DRB1*04:01‐DQA1*03:01‐DQB1*03:02 (3.7%; OR = 4.22; Pc = .0335), and DRB1*04:05‐DQA1*03:02‐DQB1*02:02 (2.7%; OR = 6.31; Pc = .0326) haplotypes were significantly increased in cases compared to controls, whereas DRB1*07:01‐DQA1*02:01‐DQB1*02:02 (OR = 0.41; Pc = .0001), DRB1*13:01‐DQA1*01:03‐DQB1*06:03 (OR = 0.05; Pc < .0001), DRB1*15:01‐DQA1*01:02‐DQB1*06:02 (OR = 0.03; Pc < .0001), and DRB1*11:01‐DQA1*05:05‐DQB1*03:01 (OR = 0.07; Pc = .0291) were significantly decreased. Homozygous DRB1*03:01‐DQA1*05:01‐DQB1*02:01 genotypes and combinations of DRB1*03:01‐DQA1*05:01‐DQB1*02:01 with DRB1*04:05‐DQA1*03:02‐DQB1*03:02, DRB1*04:02‐DQA1*03:01‐DQB1*03:02, and DRB1*04:01‐DQA1*03:01‐DQB1*03:02 were significantly increased in cases than controls. Combinations of DRB1*03:01‐DQA1*05:01‐DQB1*02:01 with DRB1*07:01‐DQA1*02:01‐DQB1*02:02 and DRB1*13:02‐DQA1*01:02‐DQB1*06:04 showed low OR values but did not remain significantly decreased after Bonferroni correction. Conclusions HLA‐DRB1‐DQA1‐DQB1 alleles, haplotypes, and diplotypes in Saudis with T1D are not markedly different from those observed in Western and Middle‐Eastern populations but are quite different than those of East Asians.

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HLA class I alleles frequencies in the Syrian population

et al. 2018

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ObjectiveThe HLA system is known to be the most polymorphic genetic loci in humans. Distribution and frequencies of HLA alleles are highly variable among different human ethnic groups. The HLA system has an important role in disease susceptibility and resistance, especially in autoimmune diseases and cancer. This study is the first report about HLA genetic variability and haplotypes among Syrians. Frequency of the HLA class I (A, B and C) alleles was determined in 105 healthy unrelated Syrian individuals from different regions in Syria. We also studied the associated haplotypes frequencies. Alleles frequencies were compared with those reported for other populations.ResultsFifty-eight HLA class I alleles were observed in Syrians including 15 for HLA-A, 28 for HLA-B and 15 for HLA-C. We observed 37 HLA-A/C haplotypes, 32 B/C, and 31 A/B haplotypes. The most frequent haplotypes were A*01/C*04, A*02/C*07, A*02/B*35, and B*35/C*04. In conclusions, our preliminary study suggests a high variability in HLA class I alleles in the Syrian population. This study also gives a general reference database about the genetic pool distribution of HLA class I alleles among Syrians and can be consulted for HLA related diseases.

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HLA-A, -B, -C, -DRB1, and -DQB1 Allele Lineages and Haplotype Frequencies among Saudis

Cited by 4 publications

References 22 publications

HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes

HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes

Association of HLA‐DR‐DQ alleles, haplotypes, and diplotypes with type 1 diabetes in Saudis

HLA class I alleles frequencies in the Syrian population

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