Genetic variants in rheumatic fever and rheumatic heart disease

doi:10.1002/ajmg.c.31773

Meta-Analysis

. 2020 Mar;184(1):159-177.

doi: 10.1002/ajmg.c.31773. Epub 2020 Feb 21.

Genetic variants in rheumatic fever and rheumatic heart disease

Babu Muhamed^{1

2

3}, Gasnat Shaboodien^{1

2}, Mark E Engel¹

Affiliations

¹ Department of Medicine, University of Cape Town, Cape Town, South Africa.
² Hatter Institute for Cardiovascular Diseases Research in Africa, Observatory, South Africa.
³ Division of Cardiology, Children's National Health System, Washington, District of Columbia.

PMID: 32083395
DOI: 10.1002/ajmg.c.31773

Meta-Analysis

Genetic variants in rheumatic fever and rheumatic heart disease

Babu Muhamed et al. Am J Med Genet C Semin Med Genet. 2020 Mar.

. 2020 Mar;184(1):159-177.

doi: 10.1002/ajmg.c.31773. Epub 2020 Feb 21.

Authors

Babu Muhamed^{1

2

3}, Gasnat Shaboodien^{1

2}, Mark E Engel¹

Affiliations

¹ Department of Medicine, University of Cape Town, Cape Town, South Africa.
² Hatter Institute for Cardiovascular Diseases Research in Africa, Observatory, South Africa.
³ Division of Cardiology, Children's National Health System, Washington, District of Columbia.

PMID: 32083395
DOI: 10.1002/ajmg.c.31773

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-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.

Keywords: genetics; polymorphisms; rheumatic fever; rheumatic heart disease.

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References

REFERENCES

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1. Abdallah, A. M., Alnuzha, A., Al-Mazroea, A. H., Eldardear, A. E., AlSamman, A. Y., Almohammadi, Y., & Al-Harbi, K. M. (2016). IL10 promoter polymorphisms are associated with rheumatic heart disease in Saudi Arabian patients. Pediatric Cardiology, 37(1), 99-105. https://doi.org/10.1007/s00246-015-1245-y
1. Aksoy, R., Duman, T., Keskin, O., & Duzgun, N. (2011). No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Molecular Biology Reports, 38(8), 5,393-5,396. https://doi.org/10.1007/s11033-011-0692-7
1. Al-Harbi, K. M., Almuzaini, I. S., Morsy, M. M., Abdelaziz, N. A., Al-Balawi, A. M., & Abdallah, A. M. (2015). Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease. Saudi Medical Journal, 36(2), 176-180. https://doi.org/10.15537/smj.2015.2.10267
1. Atalar, E., Tokgozoglu, S. L., Alikasifoglu, M., Ovunc, K., Aksoyek, S., Kes, S., & Tuncbilek, E. (2003). Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever. The Journal of Heart Valve Disease, 12(1), 7-10 Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed...

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[1] Abdallah, A. M., Al-Mazroea, A. H., Al-Harbi, W. N., Al-Harbi, N. A., Eldardear, A. E., Almohammadi, Y., & Al-Harbi, K. M. (2016). Impact of MIF gene promoter variations on risk of rheumatic heart disease and its age of onset in Saudi Arabian patients. Frontiers in Immunology, 7, 98. https://doi.org/10.3389/fimmu.2016.00098

[2] Abdallah, A. M., Al-Mazroea, A. H., Al-Harbi, W. N., Al-Harbi, N. A., Eldardear, A. E., Almohammadi, Y., & Al-Harbi, K. M. (2016). Impact of MIF gene promoter variations on risk of rheumatic heart disease and its age of onset in Saudi Arabian patients. Frontiers in Immunology, 7, 98. https://doi.org/10.3389/fimmu.2016.00098

[3] Abdallah, A. M., Alnuzha, A., Al-Mazroea, A. H., Eldardear, A. E., AlSamman, A. Y., Almohammadi, Y., & Al-Harbi, K. M. (2016). IL10 promoter polymorphisms are associated with rheumatic heart disease in Saudi Arabian patients. Pediatric Cardiology, 37(1), 99-105. https://doi.org/10.1007/s00246-015-1245-y

[4] Abdallah, A. M., Alnuzha, A., Al-Mazroea, A. H., Eldardear, A. E., AlSamman, A. Y., Almohammadi, Y., & Al-Harbi, K. M. (2016). IL10 promoter polymorphisms are associated with rheumatic heart disease in Saudi Arabian patients. Pediatric Cardiology, 37(1), 99-105. https://doi.org/10.1007/s00246-015-1245-y

[5] Aksoy, R., Duman, T., Keskin, O., & Duzgun, N. (2011). No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Molecular Biology Reports, 38(8), 5,393-5,396. https://doi.org/10.1007/s11033-011-0692-7

[6] Aksoy, R., Duman, T., Keskin, O., & Duzgun, N. (2011). No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Molecular Biology Reports, 38(8), 5,393-5,396. https://doi.org/10.1007/s11033-011-0692-7

[7] Al-Harbi, K. M., Almuzaini, I. S., Morsy, M. M., Abdelaziz, N. A., Al-Balawi, A. M., & Abdallah, A. M. (2015). Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease. Saudi Medical Journal, 36(2), 176-180. https://doi.org/10.15537/smj.2015.2.10267

[8] Al-Harbi, K. M., Almuzaini, I. S., Morsy, M. M., Abdelaziz, N. A., Al-Balawi, A. M., & Abdallah, A. M. (2015). Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease. Saudi Medical Journal, 36(2), 176-180. https://doi.org/10.15537/smj.2015.2.10267

[9] Atalar, E., Tokgozoglu, S. L., Alikasifoglu, M., Ovunc, K., Aksoyek, S., Kes, S., & Tuncbilek, E. (2003). Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever. The Journal of Heart Valve Disease, 12(1), 7-10 Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed...

[10] Atalar, E., Tokgozoglu, S. L., Alikasifoglu, M., Ovunc, K., Aksoyek, S., Kes, S., & Tuncbilek, E. (2003). Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever. The Journal of Heart Valve Disease, 12(1), 7-10 Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed...

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Genetic variants in rheumatic fever and rheumatic heart disease

Affiliations

Genetic variants in rheumatic fever and rheumatic heart disease

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Affiliations

Abstract

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Abstract

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