Polymorphisms in Inflammatory Genes Modulate Clinical Complications in Patients With Sickle Cell Disease.
Adolescent
Adult
Aged
Alleles
Anemia, Sickle Cell
/ complications
Case-Control Studies
Child
Child, Preschool
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
HLA Antigens
/ genetics
Haplotypes
Humans
Infant
Infant, Newborn
Male
Middle Aged
NK Cell Lectin-Like Receptor Subfamily K
/ genetics
Polymorphism, Single Nucleotide
Toll-Like Receptors
/ genetics
Young Adult
CTLA 4
NK cell receptors and ligands
inflammation markers
non-classical HLA
sickle cell complications
sickle cell disease
sickle cell retinopathy
toll-like receptor (TLR)
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2020
2020
Historique:
received:
20
04
2020
accepted:
27
07
2020
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
1
5
2021
Statut:
epublish
Résumé
Sickle cell disease (SCD), the most common monogenic disease worldwide, is marked by a phenotypic variability that is, to date, only partially understood. Because inflammation plays a major role in SCD pathophysiology, we hypothesized that single nucleotide polymorphisms (SNP) in genes encoding functionally important inflammatory proteins might modulate the occurrence of SCD complications. We assessed the association between 20 SNPs in genes encoding Toll-like receptors (TLR), NK cell receptors (NKG), histocompatibility leukocyte antigens (HLA), major histocompatibility complex class I polypeptide-related sequence A (MICA) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), and the occurrence of six SCD clinical complications (stroke, acute chest syndrome (ACS), leg ulcers, cholelithiasis, osteonecrosis, or retinopathy). This study was performed in a cohort of 500 patients. We found that the
Identifiants
pubmed: 33013863
doi: 10.3389/fimmu.2020.02041
pmc: PMC7510050
doi:
Substances chimiques
HLA Antigens
0
KLRK1 protein, human
0
NK Cell Lectin-Like Receptor Subfamily K
0
Toll-Like Receptors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2041Informations de copyright
Copyright © 2020 Tozatto-Maio, Girot, Ly, Silva Pinto, Rocha, Fernandes, Diagne, Benzerara, Dinardo, Soler, Kashima, Araujo, Kenzey, Fonseca, Rodrigues, Volt, Jarduli, Ruggeri, Mariaselvam, Gualandro, Rafii, Cappelli, Nogueira, Scigliuolo, Guerino-Cunha, Malmegrim, Simões, Gluckman and Tamouza.
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