High-resolution HLA allele and haplotype frequencies of the Saudi Arabian population based on 45,457 individuals and corresponding stem cell donor matching probabilities

Alfraih, Feras; Al-Awwami, Moheeb; Aljurf, Mahmoud; Al-Humaidan, Hind; Alsaedi, Hawazen Saleh; Fakih, Riad El; Al‐Otaibi, B.; Rasheed, Walid; Bernas, Stefanie N.; Massalski, Carolin; Heidl, Annett; Sauter, Jürgen; Lange, Vinzenz; Schmidt, Alexander H.

doi:10.1016/j.humimm.2020.12.006

Cited by 13 publications

(16 citation statements)

References 28 publications

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“…This CEH was also found to be commonly associated with HLA-A*26:01 in Asian Indians 47 . The 8.2 CEH was also observed at 2.68% in Kuwaiti unrelated subjects 13 , and 3.00% in unrelated Saudi Arabian bone marrow donors 32 .…”

Section: Discussionmentioning

confidence: 78%

“…The East Asian 58.1 and its recombinants were also observed at high frequency in people from the Arabian Peninsula 31 , 32 , 39 , as well as South Asia 46 , but not in Caucasians 8 , indicating a possible genetic link with populations from East Asia. This can be supported by historical documents which indicate that bidirectional trade movements from Central and South Asia through the Arabian Gulf into the Arabian peninsula's south-eastern region, which currently includes the UAE, were feasible and did occur 62 .…”

Section: Discussionmentioning

confidence: 95%

“…There have been notable efforts in characterizing the MHC region and HLA genes in populations of the Arabian Peninsula from Bahrain 29 , Kuwait 30 , and Saudi Arabia 31 , 32 to overcome the knowledge gap. By combining high-resolution typing by next-generation sequencing (NGS) with haplotype segregation analysis of family pedigrees, this report adds to these efforts by presenting data based on a powerful strategy.…”

Section: Introductionmentioning

confidence: 99%

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Characterizing the diversity of MHC conserved extended haplotypes using families from the United Arab Emirates

Alnaqbi

Tay

Chehadeh

et al. 2022

Sci Rep

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Aside from its anthropological relevance, the characterization of the allele frequencies of genes in the human Major Histocompatibility Complex (MHC) and the combination of these alleles that make up MHC conserved extended haplotypes (CEHs) is necessary for histocompatibility matching in transplantation as well as mapping disease association loci. The structure and content of the MHC region in Middle Eastern populations remain poorly characterized, posing challenges when establishing disease association studies in ethnic groups that inhabit the region and reducing the capacity to translate genetic research into clinical practice. This study was conceived to address a gap of knowledge, aiming to characterize CEHs in the United Arab Emirates (UAE) population through segregation analysis of high-resolution, pedigree-phased, MHC haplotypes derived from 41 families. Twenty per cent (20.5%) of the total haplotype pool derived from this study cohort were identified as putative CEHs in the UAE population. These consisted of CEHs that have been previously detected in other ethnic groups, including the South Asian CEH 8.2 [HLA- C*07:02-B*08:01-DRB1*03:01-DQA1*05:01-DQB1*02:01 (H.F. 0.094)] and the common East Asian CEH 58.1 [HLA- C*03:02-B*58:01-DRB1*03:01- DQA1*05:01-DQB1*02:01 (H.F. 0.024)]. Additionally, three novel CEHs were identified in the current cohort, including HLA- C*15:02-B*40:06-DRB1*16:02-DQB1*05:02 (H.F. 0.035), HLA- C*16:02-B*51:01-DRB1*16:01-DQA1*01:02-DQB1*05:02 (H.F. 0.029), and HLA- C*03:02-B*58:01-DRB1*16:01-DQA1*01:02-DQB1*05:02 (H.F. 0.024). Overall, the results indicate a substantial gene flow with neighbouring ethnic groups in the contemporary UAE population including South Asian, East Asian, African, and European populations. Importantly, alleles and haplotypes that have been previously associated with autoimmune diseases (e.g., Type 1 Diabetes) were also present. In this regard, this study emphasizes that an appreciation for ethnic differences can provide insights into subpopulation-specific disease-related polymorphisms, which has remained a difficult endeavour.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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Characterizing the diversity of MHC conserved extended haplotypes using families from the United Arab Emirates

Alnaqbi

Tay

Chehadeh

et al. 2022

Sci Rep

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“…How to cite this article: Seitz, S., Lange, V., Norman, P. J., Sauter, J., & Schmidt, A. H. (2021). Estimating HLA haplotype frequencies from homozygous individuals -A Technical Report.…”

Section: Conflict Of Interestmentioning

confidence: 99%

“…Second, HLA HF can be used to determine the proportion of patients of given ethnicity for which a matching stem cell donor can be found in a donor pool of defined size and ethnic composition. Such analyses are of great relevance for strategic planning of donor recruitment activities (Alfraih et al., 2021; Bergstrom et al., 2009; Schmidt et al., 2014; Sonnenberg et al., 1989).…”

Section: Introductionmentioning

confidence: 99%

Estimating HLA haplotype frequencies from homozygous individuals – A Technical Report

Seitz

Lange

Norman

et al. 2021

Int J Immunogenetics

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Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia

Abouelhoda,

Almuqati,

Abogosh

et al. 2023

Hum. Genet.

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High-resolution HLA allele and haplotype frequencies of the Saudi Arabian population based on 45,457 individuals and corresponding stem cell donor matching probabilities

Cited by 13 publications

References 28 publications

Characterizing the diversity of MHC conserved extended haplotypes using families from the United Arab Emirates

Characterizing the diversity of MHC conserved extended haplotypes using families from the United Arab Emirates

Estimating HLA haplotype frequencies from homozygous individuals – A Technical Report

Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia

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