Evidence map›Paper›PMID 36999238›Full record

ArticleHLA2023

Genomic characterization of HLA class I and class II genes in ethnically diverse sub-Saharan African populations: A report on novel HLA alleles.

Ioanna Pagkrati, Jamie L Duke, Eric Mbunwe, Timothy L Mosbruger, Deborah Ferriola, Jenna Wasserman, Amalia Dinou, Nikolaos Tairis, Georgios Damianos, Ioanna Kotsopoulou and 13 more

Abstract read
In one paragraph

Article in HLA, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Ioanna PagkratiImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jamie L DukeImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-4768-0846
Eric MbunweDepartment of Genetics and Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-1975-1368
Timothy L MosbrugerImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Deborah FerriolaImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jenna WassermanImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-1395-157X
Amalia DinouImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-4831-6939
Nikolaos TairisImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Georgios DamianosImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ioanna KotsopoulouImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Joanna PapaioannouImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Diamantoula GiannopoulosImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
William BeggsDepartment of Genetics and Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Thomas NyamboDepartment of Biochemistry, Kampala International University in Tanzania (KIUT), Dar es Salaam, Tanzania.
Sununguko W MpolokaDepartment of Biological Sciences, Faculty of Science, University of Botswana, Gaborone, Botswana.ORCID 0000-0003-0147-1819
Gaonyadiwe G MokoneDepartment of Biomedical Sciences, Faculty of Medicine, University of Botswana, Gaborone, Botswana.
Alfred K NjamnshiDepartment of Neuroscience, Brain Research Africa Initiative (BRAIN), Yaoundé, Cameroon.ORCID 0000-0003-0052-1511
Charles FokunangDepartment of Pharmacotoxicology and Pharmacokinetics, Faculty of Medicine and Biomedical Sciences, The University of Yaoundé I, Yaoundé, Cameroon.ORCID 0000-0003-1214-9155
Dawit WoldemeskelDepartment of Microbial, Cellular and Molecular Biology, Addis Ababa University, Addis Ababa, Ethiopia.ORCID 0000-0003-2737-8487
Gurja BelayDepartment of Microbial, Cellular and Molecular Biology, Addis Ababa University, Addis Ababa, Ethiopia.
Martin MaiersNational Marrow Donor Program/Be The Match, Minneapolis, Minnesota, USA.ORCID 0000-0002-0198-2064
Sarah A TishkoffDepartment of Genetics and Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-1339-5959
Dimitri S MonosImmunogenetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-4065-0908

Funding

Diabetes, Endocrine, and MetabolismT32DK007314 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI DORIS A STOFFERS, Patrick Seale · 1986 to 2026
$9.0M
Genetic and molecular basis for variation in human skin pigmentationR01AR076241 · NIAMS · CHILDREN'S HOSP OF PHILADELPHIA · PI MARKS, MICHAEL S, OANCEA, ELENA · 2020 to 2024
$5.5M
Integrative Genomic Analyses of Human Evolution and Adaptation in AfricaR35GM134957 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2020 to 2024
$2.7M
Atopic Dermatitis and High Resolution HLAR01AR070873 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MARGOLIS, DAVID, MONOS, DIMITRI S · 2017 to 2022
$2.4M
Integrative nutrigenomic and metabolomic analyses of Africans with variable dietsR01DK104339 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2015 to 2018
$1.4M
NIAMS NIH HHS R01 AR070873NIAMS NIH HHS R01 AR076241NIDDK NIH HHS R01 DK104339NIDDK NIH HHS T32 DK007314NIGMS NIH HHS R35 GM134957NIH HHS 1R01DK104339NIH HHS 1R35GM134957NIH HHS R01AR070873NIH HHS R01AR076241
6 · The paper itself

Abstract

HLA allelic variation has been well studied and documented in many parts of the world. However, African populations have been relatively under-represented in studies of HLA variation. We have characterized HLA variation from 489 individuals belonging to 13 ethnically diverse populations from rural communities from the African countries of Botswana, Cameroon, Ethiopia, and Tanzania, known to practice traditional subsistence lifestyles using next generation sequencing (Illumina) and long-reads from Oxford Nanopore Technologies. We identified 342 distinct alleles among the 11 HLA targeted genes: HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQA1, -DQB1, -DPA1, and -DPB1, with 140 of those alleles containing novel sequences that were submitted to the IPD-IMGT/HLA database. Sixteen of the 140 alleles contained novel content within the exonic regions of the genes, while 110 alleles contained novel intronic variants. Four alleles were found to be recombinants of already described HLA alleles and 10 alleles extended the sequence content of already described alleles. All 140 alleles include complete allelic sequence from the 5' UTR to the 3' UTR that are inclusive of all exons and introns. This report characterizes the HLA allelic variation from these individuals and describes the novel allelic variation present within these specific African populations.

Indexed as

Genes, MHC Class IIGenomicsAfrica South of the SaharaAllelesHumansgenetic variationHLAIlluminanovel allelesOxford Nanopore Technologies

Identifiers

PMID36999238
PMCPMC10524506

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.