Common and well‐documented HLA alleles over all of Europe and within European sub‐regions: A catalogue from the European Federation for Immunogenetics

Sanchez‐Mazas, Alicia; Nunes, José Manuel; Middleton, Derek; Sauter, Jürgen; Bühler, Stéphane; McCabe, Antony; Hofmann, Jan A.; Baier, Daniel M.; Schmidt, Alexander H.; Nicoloso, Grazia; Andreani, Marco; Grubić, Zorana; Tiercy, Jean‐Marie; Fleischhauer, Katharina

doi:10.1111/tan.12956

Cited by 76 publications

(94 citation statements)

References 28 publications

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“…The majority of the alleles detected at each locus are common . Seven alleles not designated as common appeared a frequency of >1 in 100 in this dataset ( A*68:01:01:02 , B*18:01:01:02 +, B*44:02:01:03 , C*04:01:01:06 , C*05:01:01:02 , C*06:02:01:02 , C*07:02:01:03 ).…”

Section: Hla Class I Allele Frequencies In Matchis Volunteers (N = supporting

confidence: 58%

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

Hou

Enriquez

Persaud

et al. 2019

HLA

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Next generation DNA sequencing is used to determine the HLA‐A, ‐B, ‐C, ‐DRB1, ‐DRB3/4/5, and ‐DQB1 assignments of 1009 unrelated volunteers for the unrelated donor registry in The Netherlands. The analysis characterizes all HLA exons and introns for class I alleles; at least exons 2 to 3 for HLA‐DRB1; and exons 2 to 6 for HLA‐DQB1. Of the distinct alleles present, there are 229 class I and 71 class II; 36 of these alleles are novel. The majority (approximately 98%) of the cumulative allele frequency at each locus is contributed by alleles that appear three or more times. Alleles encoding protein variation outside of the antigen recognition domains are 0.6% of the class I assignments and 5.3% of the class II assignments.

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Section: Hla Class I Allele Frequencies In Matchis Volunteers (N = supporting

confidence: 58%

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

Hou

Enriquez

Persaud

et al. 2019

HLA

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“…The analysis of HLA‐DRB1*03:01 ‐ DRB3 haplotypes in our sample showed a presence of only two HLA‐DRB3 alleles among our HLA‐DRB1*03:01 ‐positive individuals: HLA‐DRB3*01:01:02 (63.5%) and ‐DRB3*02:02:01:01 (36.5%). This finding is in concordance with previously published data for other European populations . The distribution of HLA‐DRB3 alleles in HLA‐DRB1*03:01‐DRB3 haplotypes was further analysed regarding the presence/absence of HLA‐B*08:01 allele, and a significant difference in distribution of two detected HLA‐DRB3 alleles with respect to the HLA‐B*08:01 allele was discovered.…”

Section: The Distribution Of Hla‐drb3 Alleles Among Hla‐drb1*03:01‐posupporting

confidence: 91%

The distribution of HLA‐DRB3 alleles among HLA‐DRB103:01*‐positive haplotypes

Janković

Grubić

Jakupić

et al. 2018

HLA

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HLA-DRB3 allelic polymorphism on HLA-DRB1*03:01-positive haplotypes was investigated among 104 cadaveric donors typed for HLA-A, -B, -DRB1, and -DRB3. Only HLA-DRB3*01:01:02 and -DRB3*02:02:01:01 alleles were detected among HLA-DRB1*03:01-positive individuals and their distribution depended on HLA-B*08 presence: nearly all HLA-B*08-positive samples carried DRB3*01:01:02, while HLA-DRB3*02:02:01:01 was more frequent among HLA-B*08-negative subjects.

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“…We used the ASHI criteria to identify CWD alleles in the Italian population, and we compared the results with the classification of CWD alleles published in Reference …”

Section: Discussionmentioning

confidence: 99%

High‐resolution analysis of the HLA‐A, ‐B, ‐C and ‐DRB1 alleles and national and regional haplotype frequencies based on 120 926 volunteers from the Italian Bone Marrow Donor Registry

Sacchi

Castagnetta

Miotti

et al. 2019

HLA

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HLA genes are highly polymorphic and structurally complex. They are located in the major histocompatibility complex (MHC) on chromosome 6, and the frequency of alleles and haplotypes varies widely among human populations. In this paper, we calculated the allele and haplotype frequencies using the HLA data of more than 120 000 Italian unrelated bone marrow donors enrolled in the national registry (IBMDR) and typed them with a high‐resolution (HR) method for the HLA‐A, ‐B, ‐C and ‐DRB1 alleles. The allele frequency data were obtained by manual counting; haplotype frequencies were calculated using the expectation maximisation (EM) algorithm. The total numbers of observed alleles were 226 for HLA‐A, 343 for HLA‐B, 201 for HLA‐C and 210 for HLA‐DRB1, which account for 5.4%, 6.7%, 5.2% and 8.5%, respectively, of each locus allele (IPD‐IMGT/HLA Database Release 3.32, April 2018). The three most frequent Italian haplotypes were HLA‐A*01:01~B*08:01~C*07:01~DRB1*03:01 (2.5%), A*02:01~B*18:01~C*07:01~DRB1*11:04 (1.1%) and A*30:01~B*13:02~C*06:02~DRB1*07:01 (1.1%). Moreover, for a relevant subset of the examined population (>100 000 individuals), the birthplace was available, and thus, we grouped the frequency data based on the corresponding Italian geographic areas, describing the HLA specificity of the Italian regional populations. The haplotype frequencies were also compared between national and regional data, and we observed remarkable differences in the regional haplotype frequencies, particularly in Sardinia. This study represents a valid tool to identify a more efficient haematopoietic stem cell unrelated donor recruitment and selection strategy, as well as for population genetic and HLA‐disease association fields.

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Common and well‐documented HLA alleles over all of Europe and within European sub‐regions: A catalogue from the European Federation for Immunogenetics

Abstract: Although the definition of CWD alleles itself is affected by different parameters, calling for current updates of the list, the EFI CWD catalogue provides new insights into European population genetics and will be a very useful tool for tissue-typing laboratories in and beyond Europe.

Cited by 76 publications

References 28 publications

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

The distribution of HLA‐DRB3 alleles among HLA‐DRB103:01*‐positive haplotypes

High‐resolution analysis of the HLA‐A, ‐B, ‐C and ‐DRB1 alleles and national and regional haplotype frequencies based on 120 926 volunteers from the Italian Bone Marrow Donor Registry

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Common and well‐documented HLA alleles over all of Europe and within European sub‐regions: A catalogue from the European Federation for Immunogenetics

Abstract: Although the definition of CWD alleles itself is affected by different parameters, calling for current updates of the list, the EFI CWD catalogue provides new insights into European population genetics and will be a very useful tool for tissue-typing laboratories in and beyond Europe.

Cited by 76 publications

References 28 publications

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

Next generation sequencing characterizes HLA diversity in a registry population from the Netherlands

The distribution of HLA‐DRB3 alleles among HLA‐DRB1*03:01‐positive haplotypes

High‐resolution analysis of the HLA‐A, ‐B, ‐C and ‐DRB1 alleles and national and regional haplotype frequencies based on 120 926 volunteers from the Italian Bone Marrow Donor Registry

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Product

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The distribution of HLA‐DRB3 alleles among HLA‐DRB103:01*‐positive haplotypes