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

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.