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Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization.

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Title: Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization.
Alternate Title: Variantes genéticas asociadas con la vitamina D en la población brasileña: investigación de potenciales instrumentos para aleatorización mendeliana.
Authors: de Souza Silverio, Caroline1,2, Bonilla, Carolina1 cxbonilla@usp.br
Source: Biomédica: Revista del Instituto Nacional de Salud. mar2024, Vol. 44 Issue 1, p45-53. 9p.
Subjects: GENETIC variation, BRAZILIANS, VITAMIN D, GENOME-wide association studies, VITAMIN D deficiency, METABOLIC regulation
Geographic Terms: BRAZIL
Abstract (English): 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 genomewide 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. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Introducción. La vitamina D es necesaria para el metabolismo óseo y mineral, y participa en la regulación de la respuesta inmunitaria. También está relacionada con enfermedades crónicas en poblaciones europeas. En Brasil, existe una prevalencia elevada de deficiencia e insuficiencia de vitamina D, a pesar de la amplia disponibilidad de luz solar. Por lo tanto, es importante investigar el papel de la vitamina D como factor de riesgo de diversas enfermedades y establecer relaciones causales entre los niveles de vitamina D y los problemas de salud en la población brasileña. Objetivo. Examinar variantes genéticas relacionadas con la vitamina D sérica en estudios de asociación genómica de poblaciones europeas y comprobar si estas mismas están presentes en Brasil. De ser así, estos SNPs podrían utilizarse como proxies en métodos de inferencia causal, tales como la aleatorización mendeliana. Materiales y métodos. A partir del catálogo de estudios de asociación de genoma completo se extrajeron SNPs relacionados con los niveles de vitamina D. Luego se hizo una búsqueda bibliográfica para identificar los artículos que evaluaran estos SNPs y la concentración de vitamina D en Brasil. Resultados. GC fue el gen más fuertemente asociado con los niveles de vitamina D, en concordancia con los resultados existentes en poblaciones europeas. Sin embargo, el gen VDR fue el más investigado, aunque no esté vinculado con la vitamina D en los estudios de asociación de genoma completo. Conclusiones. Se necesita más investigación para validar proxies genéticos de los niveles de vitamina D en Brasil y se recomienda priorizar el gen GC en lugar de VDR. [ABSTRACT FROM AUTHOR]
Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: MedicLatina
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  Data: Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization.
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  Data: Variantes genéticas asociadas con la vitamina D en la población brasileña: investigación de potenciales instrumentos para aleatorización mendeliana.
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  Data: <searchLink fieldCode="AR" term="%22de+Souza+Silverio%2C+Caroline%22">de Souza Silverio, Caroline</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Bonilla%2C+Carolina%22">Bonilla, Carolina</searchLink><relatesTo>1</relatesTo><i> cxbonilla@usp.br</i>
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  Data: <searchLink fieldCode="JN" term="%22Biomédica%3A+Revista+del+Instituto+Nacional+de+Salud%22">Biomédica: Revista del Instituto Nacional de Salud</searchLink>. mar2024, Vol. 44 Issue 1, p45-53. 9p.
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  Data: <searchLink fieldCode="DE" term="%22GENETIC+variation%22">GENETIC variation</searchLink><br /><searchLink fieldCode="DE" term="%22BRAZILIANS%22">BRAZILIANS</searchLink><br /><searchLink fieldCode="DE" term="%22VITAMIN+D%22">VITAMIN D</searchLink><br /><searchLink fieldCode="DE" term="%22GENOME-wide+association+studies%22">GENOME-wide association studies</searchLink><br /><searchLink fieldCode="DE" term="%22VITAMIN+D+deficiency%22">VITAMIN D deficiency</searchLink><br /><searchLink fieldCode="DE" term="%22METABOLIC+regulation%22">METABOLIC regulation</searchLink>
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  Data: 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 genomewide 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. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: Introducción. La vitamina D es necesaria para el metabolismo óseo y mineral, y participa en la regulación de la respuesta inmunitaria. También está relacionada con enfermedades crónicas en poblaciones europeas. En Brasil, existe una prevalencia elevada de deficiencia e insuficiencia de vitamina D, a pesar de la amplia disponibilidad de luz solar. Por lo tanto, es importante investigar el papel de la vitamina D como factor de riesgo de diversas enfermedades y establecer relaciones causales entre los niveles de vitamina D y los problemas de salud en la población brasileña. Objetivo. Examinar variantes genéticas relacionadas con la vitamina D sérica en estudios de asociación genómica de poblaciones europeas y comprobar si estas mismas están presentes en Brasil. De ser así, estos SNPs podrían utilizarse como proxies en métodos de inferencia causal, tales como la aleatorización mendeliana. Materiales y métodos. A partir del catálogo de estudios de asociación de genoma completo se extrajeron SNPs relacionados con los niveles de vitamina D. Luego se hizo una búsqueda bibliográfica para identificar los artículos que evaluaran estos SNPs y la concentración de vitamina D en Brasil. Resultados. GC fue el gen más fuertemente asociado con los niveles de vitamina D, en concordancia con los resultados existentes en poblaciones europeas. Sin embargo, el gen VDR fue el más investigado, aunque no esté vinculado con la vitamina D en los estudios de asociación de genoma completo. Conclusiones. Se necesita más investigación para validar proxies genéticos de los niveles de vitamina D en Brasil y se recomienda priorizar el gen GC en lugar de VDR. [ABSTRACT FROM AUTHOR]
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  Label:
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  Data: <i>Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.7705/biomedica.6972
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      – Code: eng
        Text: English
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        PageCount: 9
        StartPage: 45
    Subjects:
      – SubjectFull: GENETIC variation
        Type: general
      – SubjectFull: BRAZILIANS
        Type: general
      – SubjectFull: VITAMIN D
        Type: general
      – SubjectFull: GENOME-wide association studies
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      – SubjectFull: VITAMIN D deficiency
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      – SubjectFull: METABOLIC regulation
        Type: general
      – SubjectFull: BRAZIL
        Type: general
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      – TitleFull: Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization.
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              Text: mar2024
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