Abstract

BACKGROUND: As the most common type of aneurysm, abdominal aortic aneurysm (AAA) has an unfavorable prognosis due to the high frequency of rupture. Studies have indicated a close relationship between the pathogenesis and progression of AAA and abnormal serum lipid levels. ATP-binding cassette transport protein A1 (ABCA1) is a cell-surface protein facilitating cellular efflux of cholesterol. The single-nucleotide polymorphism (SNP) of ABCA1 gene has been suggested to be correlated with abnormal metabolism of lipids. Therefore, this study aimed to investigate the relationship between ABCA1 polymorphism and apoA-I and HDL-C in an attempt to elucidate its correlation with AAA occurrence.

MATERIAL AND METHODS: We included 126 AAA patients and 119 healthy controls in this study. PCR and restriction fragment length polymorphism (RFLP) were used to detect the SNP pattern of ABCA1 gene at locus rs2230806 from both AAA patients and healthy controls. The distribution pattern and correlation with apoA-I and HDL-C was analyzed.

RESULTS: The distribution of KK/RR genotype of ABCA1 gene had significant difference between disease and control group, with lower rates of RR genotype and R allele in the disease group (p<0.05). Levels of apoA-I and HDL-C, but not triglyceride and LDL-C levels, in AAA patients who carried R allele in ABCA1 gene (including RR and RK genotypes) were higher than in non-carriers (p<0.05). The R allele of ABCA1 gene was shown to be related with the occurrence of AAA (p<0.05).

CONCLUSIONS: Polymorphism of ABCA1 gene is correlated with AAA occurrence, possibly via the regulation of serum lipid metabolism by R allele.

Keywords: Adolescent, ATP Binding Cassette Transporter 1 - genetics, Aortic Aneurysm, Abdominal - genetics, Apolipoprotein A-I - genetics, Case-Control Studies, Child, Cholesterol, HDL - blood, Gene Frequency - genetics, Genetic Predisposition to Disease, Incidence, Polymorphism, Single Nucleotide - genetics, young adult