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Report from the extended HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype of the 18th international HLA and immunogenetics workshop.

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Title: Report from the extended HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype of the 18th international HLA and immunogenetics workshop.
Authors: Truong, Linh1,2 (AUTHOR) linh.truong@health.wa.gov.au, Matern, Benedict M.3 (AUTHOR), El‐Lagta, Naser1 (AUTHOR), Mobegi, Fredrick M.1 (AUTHOR), Askar, Medhat4 (AUTHOR), Ogret, Yeliz5 (AUTHOR), Oguz, Fatma S.5 (AUTHOR), Kwok, Janette6 (AUTHOR), D'Orsogna, Lloyd1,2 (AUTHOR), Martinez, Patricia1,2 (AUTHOR), Petersdorf, Effie7 (AUTHOR), Tilanus, Marcel G. J.8 (AUTHOR), De Santis, Dianne1,2 (AUTHOR)
Source: HLA: Immune Response Genetics. Dec2023, Vol. 102 Issue 6, p690-706. 17p.
Subject Terms: *HAPLOTYPES, *HEMATOPOIETIC stem cells, *ALLELES, *GENETIC variation, *SINGLE nucleotide polymorphisms, *IMMUNOGENETICS, *STEM cell transplantation
Abstract: The primary goal of the HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype component of the 18th IHIWS was to characterise the extended haplotypes within the HLA‐DP region and survey the extent of genetic diversity in this region across human populations. In this report, we analysed single‐nucleotide polymorphisms (SNPs) in 255 subjects from 6 different cohorts. The results from the HLA‐DP haplotype component have validated findings from the initial pilot study. SNPs in this region were inherited in strong linkage, particularly HLA‐DPA1, SNP‐linked promoter haplotypes and motifs in exon 2 of HLA‐DPB1. We reported 17 SNP‐linked haplotypes in the promoter region. Together with HLA‐DPA1 and HLA‐DPB1 alleles, they formed 74 distinct extended HLA‐DP haplotypes in 438 sequences. We also observed the presence of region‐specific alleles and promoter haplotypes. Our approach involved phasing extended SNPs including promoter SNPs, HLA‐DPA1 and HLA‐DPB1 alleles, in a 22 kb region, GRCh38/hg38 (chr6:33,064,111‐33,086,679), followed by clustering of these SNPs as one extended haplotype. This hierarchical clustering revealed four major clades, suggesting that haplotypes within each clade may have diverged from a common ancestral haplotype and undergone similar evolutionary processes. The correlation between HLA‐DPA1 and the promoter region raises questions about the role of HLA‐DPA1 antigen in the heterodimer. This finding requires validation on a larger sample size specifically designed for anthropological analysis. Nevertheless, the results from this study highlight the clinical potential of selecting better‐matched donors for patients awaiting haematopoietic stem cell transplants from genetically overlapping groups that share common ancestral haplotypes. [ABSTRACT FROM AUTHOR]
Copyright of HLA: Immune Response Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Report from the extended HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype of the 18th international HLA and immunogenetics workshop.
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  Data: <searchLink fieldCode="AR" term="%22Truong%2C+Linh%22">Truong, Linh</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> linh.truong@health.wa.gov.au</i><br /><searchLink fieldCode="AR" term="%22Matern%2C+Benedict+M%2E%22">Matern, Benedict M.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22El‐Lagta%2C+Naser%22">El‐Lagta, Naser</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mobegi%2C+Fredrick+M%2E%22">Mobegi, Fredrick M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Askar%2C+Medhat%22">Askar, Medhat</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ogret%2C+Yeliz%22">Ogret, Yeliz</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Oguz%2C+Fatma+S%2E%22">Oguz, Fatma S.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kwok%2C+Janette%22">Kwok, Janette</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22D'Orsogna%2C+Lloyd%22">D'Orsogna, Lloyd</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martinez%2C+Patricia%22">Martinez, Patricia</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Petersdorf%2C+Effie%22">Petersdorf, Effie</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tilanus%2C+Marcel+G%2E+J%2E%22">Tilanus, Marcel G. J.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22De+Santis%2C+Dianne%22">De Santis, Dianne</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22HLA%3A+Immune+Response+Genetics%22">HLA: Immune Response Genetics</searchLink>. Dec2023, Vol. 102 Issue 6, p690-706. 17p.
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  Data: *<searchLink fieldCode="DE" term="%22HAPLOTYPES%22">HAPLOTYPES</searchLink><br />*<searchLink fieldCode="DE" term="%22HEMATOPOIETIC+stem+cells%22">HEMATOPOIETIC stem cells</searchLink><br />*<searchLink fieldCode="DE" term="%22ALLELES%22">ALLELES</searchLink><br />*<searchLink fieldCode="DE" term="%22GENETIC+variation%22">GENETIC variation</searchLink><br />*<searchLink fieldCode="DE" term="%22SINGLE+nucleotide+polymorphisms%22">SINGLE nucleotide polymorphisms</searchLink><br />*<searchLink fieldCode="DE" term="%22IMMUNOGENETICS%22">IMMUNOGENETICS</searchLink><br />*<searchLink fieldCode="DE" term="%22STEM+cell+transplantation%22">STEM cell transplantation</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: The primary goal of the HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype component of the 18th IHIWS was to characterise the extended haplotypes within the HLA‐DP region and survey the extent of genetic diversity in this region across human populations. In this report, we analysed single‐nucleotide polymorphisms (SNPs) in 255 subjects from 6 different cohorts. The results from the HLA‐DP haplotype component have validated findings from the initial pilot study. SNPs in this region were inherited in strong linkage, particularly HLA‐DPA1, SNP‐linked promoter haplotypes and motifs in exon 2 of HLA‐DPB1. We reported 17 SNP‐linked haplotypes in the promoter region. Together with HLA‐DPA1 and HLA‐DPB1 alleles, they formed 74 distinct extended HLA‐DP haplotypes in 438 sequences. We also observed the presence of region‐specific alleles and promoter haplotypes. Our approach involved phasing extended SNPs including promoter SNPs, HLA‐DPA1 and HLA‐DPB1 alleles, in a 22 kb region, GRCh38/hg38 (chr6:33,064,111‐33,086,679), followed by clustering of these SNPs as one extended haplotype. This hierarchical clustering revealed four major clades, suggesting that haplotypes within each clade may have diverged from a common ancestral haplotype and undergone similar evolutionary processes. The correlation between HLA‐DPA1 and the promoter region raises questions about the role of HLA‐DPA1 antigen in the heterodimer. This finding requires validation on a larger sample size specifically designed for anthropological analysis. Nevertheless, the results from this study highlight the clinical potential of selecting better‐matched donors for patients awaiting haematopoietic stem cell transplants from genetically overlapping groups that share common ancestral haplotypes. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of HLA: Immune Response Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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        Value: 10.1111/tan.15155
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      – Code: eng
        Text: English
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        PageCount: 17
        StartPage: 690
    Subjects:
      – SubjectFull: HAPLOTYPES
        Type: general
      – SubjectFull: HEMATOPOIETIC stem cells
        Type: general
      – SubjectFull: ALLELES
        Type: general
      – SubjectFull: GENETIC variation
        Type: general
      – SubjectFull: SINGLE nucleotide polymorphisms
        Type: general
      – SubjectFull: IMMUNOGENETICS
        Type: general
      – SubjectFull: STEM cell transplantation
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      – TitleFull: Report from the extended HLA‐DPA1 ~ promoter ~ HLA‐DPB1 haplotype of the 18th international HLA and immunogenetics workshop.
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            – D: 01
              M: 12
              Text: Dec2023
              Type: published
              Y: 2023
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