Genetic variants in rheumatic fever and rheumatic heart disease.
genetics
polymorphisms
rheumatic fever
rheumatic heart disease
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
04
11
2019
revised:
28
01
2020
accepted:
28
01
2020
pubmed:
23
2
2020
medline:
7
1
2021
entrez:
22
2
2020
Statut:
ppublish
Résumé
Genetic association studies in rheumatic heart disease (RHD) have the potential to contribute toward our understanding of the pathogenetic mechanism, and may shed light on controversies about RHD etiology. Furthermore, genetic association studies may uncover biomarkers that can be used to identify susceptible individuals, and contribute toward developing vaccine and novel therapeutic targets. Genetic predisposition to rheumatic fever and RHD has been hypothesized by findings from familial studies and observed associations between genes located in the human leukocyte antigens on chromosome 6p21.3 and elsewhere in the genome. We sought to summarize, from published Genetic association studies in RHD, evidence on genetic variants implicated in RHD susceptibility. Using HuGENet™ systematic review methods, we evaluated 66 studies reporting on 42 genes. Existing meta-analyses of candidate gene studies suggest that TGF-β1 [rs1800469], and IL-1β [rs2853550] single nucleotide polymorphisms (SNPs) contribute to susceptibility to RHD, whereas the TNF-α [rs1800629 and rs361525], TGF-β1 [rs1800470 and rs4803457], IL-6 [rs1800795], IL-10 [rs1800896] were not associated with RHD. However, candidate gene studies in RF/RHD are relatively small, thus lacking statistical power to identify reliable and reproducible findings, emphasizing the need for large-scale multicenter studies with different populations.
Identifiants
pubmed: 32083395
doi: 10.1002/ajmg.c.31773
doi:
Substances chimiques
Interleukin-6
0
TGFB1 protein, human
0
Transforming Growth Factor beta1
0
Interleukin-10
130068-27-8
Types de publication
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
159-177Subventions
Organisme : American Heart Association
Pays : International
Organisme : National Research Foundation of South Africa
ID : 116287
Pays : International
Organisme : National Research Foundation of South Africa
ID : 94044
Pays : International
Organisme : Medical Research Council of South Africa (MRC-SA)
Pays : International
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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