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Gene & Protein in Disease rs670 SNP in APOA1 gene

anti-inflammatory activities, as well as improved glycemic Author contributions
control. 6
Conceptualization: Mac Dionys Rodrigues da Costa, Tiago
Beyond the promoter region of APOA1, rs670 SNP Lima Sampaio
impacts the intronic region of the long non-coding RNA Methodology: Mac Dionys Rodrigues da Costa, Bruna
antisense to APOA1 (APOA1-AS). APOA1-AS negatively Ribeiro Duque, Natasha Maria Lima Pinheiro, Izabell
regulates APOA1 expression in tissues like the testicle, Maria Martins Teixeira, Emanuel Paula Magalhães,
ovary, cervix, and thyroid. In vitro studies have shown Felipe Ramon Cunha da Silva, Mateus Edson da Silva
that APOA1-AS modulates histone methylation patterns, Writing–original draft: Mac Dionys Rodrigues da Costa
regulating active and inactive states of gene expression. Writing–review & editing: Alice Maria Costa Martins,
This action not only represses APOA1 but also neighboring Ramon Róseo Paula Pessoa Bezerra de Menezes,
APOC3 and APOA4. Silencing APOA1-AS with small Tiago Lima Sampaio
antisense oligonucleotides increased APOA1 expression,
confirming its regulatory role in the APO cluster on Ethics approval and consent to participate
chromosome 11. 46 Not applicable.
Research into the effect of the rs670 SNP on the
APO cluster offers insights into personalized medicine, Consent for publication
including cardiovascular risk variations, insulin resistance, Not applicable.
and dietary interventions for lipid metabolism. It may
also inform the prognosis of cancers overexpressing Availability of data
SR-B1 receptors. 47,48 However, existing studies are limited This integrative review was carried out to comprehensively
by sample size and ethnic diversity, hindering the analyze the available studies on the rs670 polymorphism of
generalization of findings. Thus, further research must the APOA1 gene up to July 2024. The databases used were
account for factors like ethnicity, age, sex, nutrition, dbSNP–database of single-nucleotide polymorphisms
and lifestyle to understand the role of the rs670 SNP in (www.ncbi.nlm.nih.gov/snp/), LitVar2 (www.ncbi.nlm.
metabolic syndrome development. 49 nih.gov/research/litvar2/), Scopus (www.scopus.com/),
14
and ScienceDirect (www.sciencedirect.com/). The searches
5. Conclusion were carried out in the Scopus and ScienceDirect databases
The rs670 SNP is present in a significant proportion of using the following search string [“rs670” OR “−75GA”
the global population and has been studied extensively, AND “APOA-I” OR “APOA1”], while the dbSNP and
particularly in Asian countries. Positioned in the promoter LitVar2 databases, which share PubMed articles, provide a
region of APOA1, this polymorphism has the potential list of articles deposited on the rs670 polymorphism.
to alter gene expression, affecting lipid and carbohydrate The inclusion criteria applied to the searches were as
metabolism, oxidative stress, immune response, and follows: (1) the article was available in full to enable a
tumor development. This review underscores the need to critical analysis; (2) it was not a review article and/or meta-
investigate the actual impact of this polymorphism on gene analysis to avoid duplicate articles; (3) it was not a GWAS,
expression and its relationship with metabolic syndrome, as it does not provide allele and genotype frequencies;
cardiovascular disease, and cancer as well as examines and (4) it had the MAF or a contingency table with the
environmental factors that may influence epigenetic genotype distributions. Duplicate articles were then
profiles. excluded. The articles selected could be in any language
and year of publication.
Acknowledgments
The authors are grateful to the Federal University of Ceará References
for providing the infrastructure to carry out the database 1. Feingold KR. Introduction to Lipids and Lipoproteins.
searches. Endotext. Available from: https://www.ncbi.nlm.nih.gov/
books/NBK305896 [Last accessed on 2024 Jul 08].
Funding 2. Zanoni P, Von Eckardstein A. Inborn errors of apolipoprotein
None. A-I metabolism: Implications for disease, research and
development. Curr Opin Lipidol. 2020;31(2):62-70.
Conflict of interest doi: 10.1097/MOL.0000000000000667
The authors declare that they have no competing interests. 3. Zannis VI, Karathanasis SK, Keutmann HT, Goldberger G,

Volume 4 Issue 1 (2025) 7 doi: 10.36922/gpd.4354