Page 59 - GPD-4-1

Gene & Protein in Disease

REVIEW ARTICLE
Single-nucleotide polymorphism rs670 in the

promoter region of the apolipoprotein A-I gene

1
1
Mac Dionys Rodrigues da Costa , Bruna Ribeiro Duque ,
1
Natasha Maria Lima Pinheiro , Izabell Maria Martins Teixeira ,
1
Emanuel Paula Magalhães , Felipe Ramon Cunha da Silva ,
1
1
Mateus Edson da Silva , Alice Maria Costa Martins ,
1
2
Ramon Róseo Paula Pessoa Bezerra de Menezes , and Tiago Lima Sampaio *
1,2
1,2
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
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
*Corresponding author:
Tiago Lima Sampaio were identified, of which 28 met the inclusion criteria. Most studies originated from
(tiagosampaio@ufc.br) Asia and were published between 2009 and 2023. Of the selected studies, 14 (50%)
Citation: da Costa MDR, examined the association of the rs670 SNP with metabolic disorders. Among
Duque BR, Pinheiro NML, et al. these, eight (28.57%) reported an association between the polymorphic allele
Single-nucleotide polymorphism and alterations in lipid profiles, proinflammatory markers, and insulin resistance.
rs670 in the promoter region of
the apolipoprotein A-I gene. Gene The remaining studies explored associations between the polymorphic allele and
Protein Dis. 2025;4(1):4354. ischemic events, pharmacological therapies, diet, neurodegenerative diseases,
doi: 10.36922/gpd.4354 pancreatitis, and breast cancer. The rs670 SNP occurs in more than 20% of the global
Received: July 29, 2024 population. Its position within the promoter region enables it to potentially regulate
1st revised: August 20, 2024 the APO cluster on chromosome 11. This review underscores the need for further
2nd revised: November 15, 2024 investigation into the impact of this polymorphism on gene expression and its role in
Accepted: November 20, 2024
Published online: December 13, the pathogenesis of metabolic syndrome, cardiovascular disease, and cancer.
2024
Copyright: © 2024 Author(s). Keywords: Apolipoprotein A-I; High-density lipoprotein; Lipid metabolism; Single-
This is an Open-Access article
distributed under the terms of the nucleotide polymorphism
Creative Commons Attribution
License, permitting distribution,
and reproduction in any medium,
provided the original work is
properly cited. 1. Introduction
Publisher’s Note: AccScience The proper functioning of lipid metabolism involves several key components, such as
Publishing remains neutral with lipoproteins, apolipoproteins (Apo), enzymes, and tissue receptors. Apo play crucial
regard to jurisdictional claims in
published maps and institutional roles in the orientation and stabilization of lipoproteins, serving as ligands for receptors
affiliations. and acting as enzyme activators or inhibitors. Apo A-I, predominantly synthesized in

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