Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
Adolescent
Adult
Aged
Anemia, Aplastic
/ etiology
Case-Control Studies
Child
Child, Preschool
Female
Genetic Markers
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
HLA-DP beta-Chains
/ genetics
Humans
Infant
Male
Middle Aged
Phylogeny
Polymorphism, Single Nucleotide
Risk Factors
Severity of Illness Index
Young Adult
GWAS
HLA
HLA-DP
aplastic anemia
bone marrow failure
etiology
genome-wide association study
hematpoietic cell transplantation
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
06 02 2020
06 02 2020
Historique:
received:
23
03
2019
accepted:
07
01
2020
pubmed:
1
2
2020
medline:
18
4
2020
entrez:
1
2
2020
Statut:
ppublish
Résumé
Severe aplastic anemia (SAA) is a rare disorder characterized by hypoplastic bone marrow and progressive pancytopenia. The etiology of acquired SAA is not understood but is likely related to abnormal immune responses and environmental exposures. We conducted a genome-wide association study of individuals with SAA genetically matched to healthy controls in discovery (359 cases, 1,396 controls) and validation sets (175 cases, 1,059 controls). Combined analyses identified linked SNPs in distinct blocks within the major histocompatibility complex on 6p21. The top SNP encodes p.Met76Val in the P4 binding pocket of the HLA class II gene HLA-DPB1 (rs1042151A>G, odds ratio [OR] 1.75, 95% confidence interval [CI] 1.50-2.03, p = 1.94 × 10
Identifiants
pubmed: 32004448
pii: S0002-9297(20)30004-5
doi: 10.1016/j.ajhg.2020.01.004
pmc: PMC7010969
pii:
doi:
Substances chimiques
Genetic Markers
0
HLA-DP beta-Chains
0
HLA-DPB1 antigen
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
264-271Subventions
Organisme : NHLBI NIH HHS
ID : U10 HL069294
Pays : United States
Organisme : NCI NIH HHS
ID : N01 PC067009
Pays : United States
Organisme : NCI NIH HHS
ID : N01 PC067010
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA165923
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA076518
Pays : United States
Organisme : NCI NIH HHS
ID : N01 PC067008
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA062006
Pays : United States
Organisme : NCI NIH HHS
ID : N01 PC065064
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA092153
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA097274
Pays : United States
Organisme : CCR NIH HHS
ID : HHSN261200800001C
Pays : United States
Organisme : NCI NIH HHS
ID : HHSN261200800001E
Pays : United States
Informations de copyright
Published by Elsevier Inc.
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