Genetic variants in rheumatic fever and rheumatic heart disease.
Am J Med Genet C Semin Med Genet
; 184(1): 159-177, 2020 03.
Article
in En
| MEDLINE
| ID: mdl-32083395
ABSTRACT
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-ß1 [rs1800469], and IL-1ß [rs2853550] single nucleotide polymorphisms (SNPs) contribute to susceptibility to RHD, whereas the TNF-α [rs1800629 and rs361525], TGF-ß1 [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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rheumatic Fever
/
Rheumatic Heart Disease
/
Genetic Association Studies
Type of study:
Clinical_trials
/
Prognostic_studies
/
Systematic_reviews
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet C Semin Med Genet
Journal subject:
GENETICA MEDICA
Year:
2020
Document type:
Article
Affiliation country: