High-resolution HLA phased haplotype frequencies to predict the success of unrelated donor searches and clinical outcome following hematopoietic stem cell transplantation

Bühler, Stéphane; Baldomero, Helen; Ferrari‐Lacraz, Sylvie; Nunes, José Manuel; Sanchez‐Mazas, Alicia; Massouridi-Levrat, Stravroula; Heim, Dominik; Gayathri, Nair; Chalandon, Yves; Schanz, Urs; Güngör, Tayfun; Nicoloso, Grazia; Tiercy, Jean‐Marie; Passweg, Jakob; Villard, Jean

doi:10.1038/s41409-019-0520-6

Cited by 15 publications

(19 citation statements)

References 45 publications

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“…Recently, it has been shown that both high-resolution HLA typing and haplotyping are important in hematopoietic stem cell transplantation for both unrelated and related donors in reducing post-transplantation adverse outcomes (Agarwal et al, 2017;Buhler et al, 2019); a single high-resolution HLA mismatch may lead to a similar negative effect on outcomes as a low-resolution one (Fuji et al, 2015;Armstrong et al, 2017). Therefore, it has been suggested that highresolution HLA typing can reduce the likelihood of missing a clinically significant mismatch compared to traditional lowresolution typing, especially in developing countries where highresolution HLA typing methods are not widely available (Agarwal et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing

Đăng

et al. 2020

Front. Genet.

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Human leukocyte antigen (HLA) genotyping displays the particular characteristics of HLA alleles and haplotype frequencies in each population. Although it is considered the current gold standard for HLA typing, high-resolution sequence-based HLA typing is currently unavailable in Kinh Vietnamese populations. In this study, high-resolution sequence-based HLA typing (3-field) was performed using an amplicon-based nextgeneration sequencing platform to identify the HLA-A,-B,-C,-DRB1, and-DQB1 alleles of 101 unrelated healthy Kinh Vietnamese individuals from southern Vietnam. A total of 28 HLA-A, 41 HLA-B, 21 HLA-C, 26 HLA-DRB1, and 25 HLA-DQB1 alleles were identified. The most frequently occurring HLA alleles were A *

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Section: Discussionmentioning

confidence: 99%

High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing

Đăng

et al. 2020

Front. Genet.

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“…Matching probability analyses using population-specific HLA haplotype frequencies allow targeted planning of donor center recruitment strategies (40). Beyond that, a positive impact on outcome of HSCT is proposed for the additional matching of non-HLA genes located in the MHC region via haplotype matching between patient and donor, but study results are still inconclusive (41)(42)(43).…”

Section: Introductionmentioning

confidence: 99%

Estimation of German KIR Allele Group Haplotype Frequencies

et al. 2020

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The impact of the highly polymorphic Killer-cell immunoglobulin-like receptor (KIR) gene cluster on the outcome of hematopoietic stem cell transplantation (HCST) is subject of current research. To further understand the involvement of this gene family into Natural Killer (NK) cell-mediated graft-versus-leukemia reactions, knowledge of haplotype structures, and allelic linkage is of importance. In this analysis, we estimate population-specific KIR haplotype frequencies at allele group resolution in a cohort of n = 458 German families. We addressed the polymorphism of the KIR gene complex and phasing ambiguities by a combined approach. Haplotype inference within first-degree family relations allowed us to limit the number of possible diplotypes. Structural restriction to a pattern set of 92 previously described KIR copy number haplotypes further reduced ambiguities. KIR haplotype frequency estimation was finally accomplished by means of an expectation-maximization algorithm. Applying a resolution threshold of ½ n, we were able to identify a set of 551 KIR allele group haplotypes, representing 21 KIR copy number haplotypes. The haplotype frequencies allow studying linkage disequilibrium in two-locus as well as in multi-locus analyses. Our study reveals associations between KIR haplotype structures and allele group frequencies, thereby broadening our understanding of the KIR gene complex.

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“…The overall outcome is also dependent on patient age and disease status at the time of transplantation. Despite the advances, such as accurate allelic matching, treatment regimens, and improved supportive care treatment, it still holds true that HSCT shows superior outcomes with fewer complications and higher survival rate when a matched sibling donor is available [24,26,27].…”

Section: Pgt With Human Leucocyte Antigen (Hla) Matching: Clinical Utmentioning

confidence: 99%

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Kakourou¹,

Mamas²,

Vrettou³

et al. 2019

obm genet

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Preimplantation Genetic Testing for Human Leucocyte Antigen-matching (PGT-HLA), first reported in 2001, has been one of the most controversial PGT applications. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of hematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches of donor selection. HLA-typing can be performed with or without PGT for the exclusion of a monogenic disorder (PGT-M). The diagnostic PGT approach has greatly evolved over the years. HLA haplotyping by linkage analysis has been the most commonly applied generic approach to date but nowadays newer techniques (SNP arrays, NGS) are also being applied. PGT-HLA is a complex procedure that must be very well orchestrated between specialists of many different disciplines to ensure that successful HSCT is completed in time for the maximum benefit of the recipient. This review discusses the procedure and methodology of PGT, clinical application, and utility of PGT-HLA, and underlines how, despite the limitations, it has been a successful and realistic approach for many couples.

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High-resolution HLA phased haplotype frequencies to predict the success of unrelated donor searches and clinical outcome following hematopoietic stem cell transplantation

Cited by 15 publications

References 45 publications

High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing

High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing

Estimation of German KIR Allele Group Haplotype Frequencies

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

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