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A strong association between VEGF-A rs28357093 and amyotrophic lateral sclerosis: a brazilian genetic study

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Abstract

Background

Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. Vascular Endothelial Growth Factor A (VEGF-A) plays multiple roles in the central nervous systems (CNS). The purpose of this study was to evaluate the association between single nucleotide polymorphism (SNP) VEGF-A rs28357093 and ALS.

Methods and Results

This case-control study was conducted in 101 ALS patients and 119 healthy individuals. Genotyping was performed by Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP). The statistical analysis was carried out using the RStudio® and SNPStats© software’s. Analysis of genetic inheritance models was performed by logistic regression. Our findings demonstrated a strong association between VEGF- A rs28357093 and ALS in all genetic inheritance models, with a 9-fold increased risk for A/C – C/C genotypes (95%CI = 3.70-21.88; p < 0.001).

Conclusions

The mutant allele was more frequent in ALS patients (p < 0.001) and this finding could be associated with ALS risk. This first study from the Brazilian central population was conducted to provide new insight into the pathogenesis of ALS.

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Fig. 1

Data Availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

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Acknowledgements

The authors would like to thank all individuals who voluntarily participated in this study and the State Rehabilitation and Readaptation Medical Center Dr. Henrique Santillo (CRER) for their support with the samples used. This work was supported by personal resources from the research coordinators (Angela Adamski da Silva Reis, Ph.D., and Rodrigo da Silva Santos, Ph.D.).

Funding

This study was supported by the Programa de Pós-Graduação em Assistência e Avaliação em Saúde from Universidade Federal de Goiás (UFG); and personal resources from the research coordinators (Angela Adamski da Silva Reis, Ph.D., and Rodrigo da Silva Santos, Ph.D.).

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Authors and Affiliations

  1. Laboratory of Molecular Pathology, Biological Sciences Institute (ICBII), Federal University of Goiás (UFG), Goiânia, Goiás, Brazil

    Caroline Christine Pincela da Costa, Nayane Soares de Lima, Dhiogo da Cruz Pereira Bento, Rodrigo da Silva Santos & Angela Adamski da Silva Reis

  2. Department of Biochemistry and Molecular Biology, Biological Sciences Institute (ICBII), Federal University of Goiás (UFG), Goiânia, Goiás, Brazil

    Rodrigo da Silva Santos & Angela Adamski da Silva Reis

Authors
  1. Caroline Christine Pincela da Costa
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  2. Nayane Soares de Lima
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  3. Dhiogo da Cruz Pereira Bento
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  4. Rodrigo da Silva Santos
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  5. Angela Adamski da Silva Reis
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Caroline Christine Pincela da Costa, Nayane Soares de Lima, Dhiogo da Cruz Pereira Bento, Rodrigo da Silva Santos and Angela Adamski da Silva Reis. The first draft of the manuscript was written by Caroline Christine Pincela da Costa, Rodrigo da Silva Santos, and Angela Adamski da Silva Reis, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Rodrigo da Silva Santos or Angela Adamski da Silva Reis.

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Competing interests

The authors have declared no conflict of interest.

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Research Ethics Committee of Federal University of Goiás, under protocol number CAAE 79593117.7.0000.5083.

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Informed consent was obtained from all individual participants included in the study.

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The authors affirm that human research participants provided informed consent for the data publication.

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da Costa, C.C.P., de Lima, N.S., da Cruz Pereira Bento, D. et al. A strong association between VEGF-A rs28357093 and amyotrophic lateral sclerosis: a brazilian genetic study. Mol Biol Rep 49, 9129–9133 (2022). https://doi.org/10.1007/s11033-022-07647-z

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  • DOI: https://doi.org/10.1007/s11033-022-07647-z

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