Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization
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| Formato: | Artículo científico |
| Lenguaje: | en |
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Instituto Nacional de Salud
2024
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| _version_ | 1876433713730945024 |
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| author | Caroline de Souza Silverio |
| author_facet | Caroline de Souza Silverio |
| contents | Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization Caroline de Souza Silverio Carolina Bonilla Medicina 25 alpha genome Brazil Vitamin D Introduction. Vitamin D is required for bone and mineral metabolism and participates in the regulation of the immune response. It is also linked to several chronic diseases and conditions, usually in populations of European descent. Brazil presents a high prevalence of vitamin D deficiency and insufficiency despite the widespread availability of sunlight in the country. Thus, it is important to investigate the role of vitamin D as a risk factor for disease and to establish causal relationships between vitamin D levels and health-related outcomes in the Brazilian population.Objective. To examine genetic variants identified as determinants of serum vitamin D in genome-wide association studies of European populations and check whether the same associations are present in Brazil. If so, these single nucleotide polymorphisms (SNPs) could be developed locally as proxies to use in genetically informed causal inference methods, such as Mendelian randomization.Materials and methods. We extracted SNPs associated with vitamin D from the genome-wide association studies catalog. We did a literature search to select papers ascertaining these variants and vitamin D concentrations in Brazil.Results. GC was the gene with the strongest association with vitamin D levels, in agreement with existing findings in European populations. However, VDR was the most investigated gene, regardless of its non-existing association with vitamin D in the genomewide association studies.Conclusions. More research is needed to validate sound proxies for vitamin D levels in Brazil, for example, prioritizing GC rather than VDR. 2024 artículo científico 0120-4157 https://www.redalyc.org/articulo.oa?id=84378883005 https://www.redalyc.org/journal/843/84378883005/ https://www.redalyc.org/journal/843/84378883005/html/ https://www.redalyc.org/journal/843/84378883005/84378883005.epub https://www.redalyc.org/journal/843/84378883005/movil 10.7705/biomedica.6972 en http://www.redalyc.org/revista.oa?id=843 Biomédica application/pdf Instituto Nacional de Salud Biomédica (Colombia) Num.1 Vol.44 |
| format | Artículo científico |
| id | redalyc_84378883005 |
| institution | Redalyc |
| language | en |
| publishDate | 2024 |
| publisher | Instituto Nacional de Salud |
| spellingShingle | Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization Caroline de Souza Silverio Medicina 25 alpha genome Brazil Vitamin D Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization Caroline de Souza Silverio Carolina Bonilla Medicina 25 alpha genome Brazil Vitamin D Introduction. Vitamin D is required for bone and mineral metabolism and participates in the regulation of the immune response. It is also linked to several chronic diseases and conditions, usually in populations of European descent. Brazil presents a high prevalence of vitamin D deficiency and insufficiency despite the widespread availability of sunlight in the country. Thus, it is important to investigate the role of vitamin D as a risk factor for disease and to establish causal relationships between vitamin D levels and health-related outcomes in the Brazilian population.Objective. To examine genetic variants identified as determinants of serum vitamin D in genome-wide association studies of European populations and check whether the same associations are present in Brazil. If so, these single nucleotide polymorphisms (SNPs) could be developed locally as proxies to use in genetically informed causal inference methods, such as Mendelian randomization.Materials and methods. We extracted SNPs associated with vitamin D from the genome-wide association studies catalog. We did a literature search to select papers ascertaining these variants and vitamin D concentrations in Brazil.Results. GC was the gene with the strongest association with vitamin D levels, in agreement with existing findings in European populations. However, VDR was the most investigated gene, regardless of its non-existing association with vitamin D in the genomewide association studies.Conclusions. More research is needed to validate sound proxies for vitamin D levels in Brazil, for example, prioritizing GC rather than VDR. 2024 artículo científico 0120-4157 https://www.redalyc.org/articulo.oa?id=84378883005 https://www.redalyc.org/journal/843/84378883005/ https://www.redalyc.org/journal/843/84378883005/html/ https://www.redalyc.org/journal/843/84378883005/84378883005.epub https://www.redalyc.org/journal/843/84378883005/movil 10.7705/biomedica.6972 en http://www.redalyc.org/revista.oa?id=843 Biomédica application/pdf Instituto Nacional de Salud Biomédica (Colombia) Num.1 Vol.44 |
| title | Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization |
| topic | Medicina 25 alpha genome Brazil Vitamin D |
| url | https://www.redalyc.org/articulo.oa?id=84378883005 https://www.redalyc.org/journal/843/84378883005/ https://www.redalyc.org/journal/843/84378883005/html/ https://www.redalyc.org/journal/843/84378883005/84378883005.epub https://www.redalyc.org/journal/843/84378883005/movil |