Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
Alleles
Anemia, Sickle Cell
/ ethnology
Brazil
/ epidemiology
Cohort Studies
Duffy Blood-Group System
/ genetics
Ethnicity
/ genetics
Gene Frequency
Genetic Association Studies
Genetic Variation
Humans
INDEL Mutation
Kell Blood-Group System
/ genetics
Kidd Blood-Group System
/ genetics
Membrane Glycoproteins
/ genetics
Membrane Transport Proteins
/ genetics
Metalloendopeptidases
/ genetics
Molecular Sequence Annotation
Mutation, Missense
National Heart, Lung, and Blood Institute (U.S.)
Polymorphism, Single Nucleotide
Racial Groups
/ genetics
Receptors, Cell Surface
/ genetics
United States
Whole Genome Sequencing
Urea Transporters
blood group genomics
hematology - red cells
immunohematology (RBC serology, blood groups)
Journal
Transfusion
ISSN: 1537-2995
Titre abrégé: Transfusion
Pays: United States
ID NLM: 0417360
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
04
06
2020
revised:
17
08
2020
accepted:
18
10
2020
pubmed:
25
11
2020
medline:
9
7
2021
entrez:
24
11
2020
Statut:
ppublish
Résumé
Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen-matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS-III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine (TOPMed) program. In SLC14A1, variants included four encoding a weak Jk We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.
Sections du résumé
BACKGROUND
Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen-matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data.
STUDY DESIGN AND METHODS
Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS-III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine (TOPMed) program.
RESULTS
In SLC14A1, variants included four encoding a weak Jk
CONCLUSIONS
We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.
Substances chimiques
ACKR1 protein, human
0
Duffy Blood-Group System
0
Kell Blood-Group System
0
Kidd Blood-Group System
0
Membrane Glycoproteins
0
Membrane Transport Proteins
0
Receptors, Cell Surface
0
KEL protein, human
EC 3.4.24.-
Metalloendopeptidases
EC 3.4.24.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
603-616Informations de copyright
© 2020 AABB.
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