The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus

• Published in: Gene 2024-11, Vol.927, p.148705, Article 148705
• Main Authors: Boh, Jakob, Šuligoj, Ema, Mankoč Ramuš, Sara, Petrovič, Daniel
• Format: Article
• Language: English
• Subjects: ABCA1 gene; Aged; Alleles; Atherosclerosis; ATP Binding Cassette Transporter 1 - genetics; Case-Control Studies; Cholesterol metabolism; Cross-Sectional Studies; Diabetes Mellitus, Type 2 - complications; Diabetes Mellitus, Type 2 - genetics; Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Myocardial infarction; Myocardial Infarction - genetics; Polymorphism, Single Nucleotide; Retrospective Studies; Risk Factors; Slovenia; Type 2 diabetes mellitus
• ISSN: 0378-1119; 1879-0038; 1879-0038
• DOI: 10.1016/j.gene.2024.148705

•The T allele of the rs2230806 in ABCA1 gene is associated with higher risk of MI in Slovenian T2DM subjects.•The A allele of the rs1800977 in ABCA1 gene conferred protection against MI in Slovenian T2DM subjects.•Further studying associations between ABCA1 SNPs and acute vascular events rather than solely extent of atherosclerosis is needed to fully understand clinical impact of ABCA1. The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is closely linked to various aspects of the regulation of whole-body cholesterol metabolism and atherosclerosis formation. The object of the study was to investigate the association between rs1800977 and rs2230806 polymorphisms in the ABCA1 gene and myocardial infarction (MI) in Slovenian subjects with type 2 diabetes mellitus (T2DM). 1590 T2DM patients (484 subjects with MI and 1106 controls) were included in this retrospective cross-sectional case–control study. After genotyping, Pearson χ2 test was used to compare the distribution of genotypes and alleles among the two groups. Logistic regression analysis adjusted for several risk factors for MI was performed. Genotype distribution showed significant association with MI in T2DM subjects for both selected polymorphisms in ABCA1 gene (p = 0.009 for rs2230806 and p = 0.042 for rs1800977). After applying corrections for confounding variables like age, waist circumference, diastolic blood pressure, serum high-density lipoprotein levels, gender and smoking several genetic models still showed significant associations with MI (dominant model for rs2230806 and dominant, overdominant and co-dominant for rs1800977). Our study showed that presence of the T allele of the rs2230806 ABCA1 gene is associated with higher risk of MI, while the A allele of the rs1800977 conferred protection against MI in Slovenian T2DM subjects.