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REVIEW ARTICLE

Single-nucleotide polymorphism rs670 in the promoter region of the apolipoprotein A-I gene

Mac Dionys Rodrigues da Costa1 ,  Bruna Ribeiro Duque1 ,  Natasha Maria Lima Pinheiro1 ,  Izabell Maria Martins Teixeira1 ,  Emanuel Paula Magalhães1 ,  Felipe Ramon Cunha da Silva1 ,  Mateus Edson da Silva1 ,  Alice Maria Costa Martins2 ,  Ramon Róseo Paula Pessoa Bezerra de Menezes1,2 ,  Tiago Lima Sampaio1,2*
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1 Postgraduate Programme in Pharmaceutical Sciences, Federal University of Ceará, Fortaleza, Ceará, Brazil
2 Department of Clinical and Toxicological Analyses, Federal University of Ceará, Fortaleza, Ceará, Brazil
GPD, 4354 https://doi.org/10.36922/gpd.4354
Submitted: 29 July 2024 | Accepted: 20 November 2024 | Published: 13 December 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Apolipoprotein A-I (Apo A-I) plays a central role in the function of high-density lipoprotein (HDL). The rs670 single-nucleotide polymorphism (SNP) was identified as a cytosine-to-thymine (C>T) transition in a cytosine–phosphate–guanine site within the promoter region of APOA1. Given its location, studies have hypothesized that this polymorphism may influence APOA1 expression, potentially impacting lipid and carbohydrate metabolism. The aim of this integrative review was to summarize all observational and experimental studies on the rs670 SNP available in the Scopus, ScienceDirect, dbSNP, and LitVar2 databases up to July 2024. In total, 162 articles were identified, of which 28 met the inclusion criteria. Most studies originated from Asia and were published between 2009 and 2023. Of the selected studies, 14 (50%) examined the association of the rs670 SNP with metabolic disorders. Among these, eight (28.57%) reported an association between the polymorphic allele and alterations in lipid profiles, proinflammatory markers, and insulin resistance. The remaining studies explored associations between the polymorphic allele and ischemic events, pharmacological therapies, diet, neurodegenerative diseases, pancreatitis, and breast cancer. The rs670 SNP occurs in more than 20% of the global population. Its position within the promoter region enables it to potentially regulate the APO cluster on chromosome 11. This review underscores the need for further investigation into the impact of this polymorphism on gene expression and its role in the pathogenesis of metabolic syndrome, cardiovascular disease, and cancer.

Keywords
Apolipoprotein A-I
High-density lipoprotein
Lipid metabolism
Single-nucleotide polymorphism
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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