: This study aims to identify the minor allele of the single nucleotide polymorphisms (SNPs) rs7025486, rs2228145, rs10757278, rs3798220, rs1466535, and rs599839 in order to assess the risk of abdominal aortic aneurysm (AAA) formation and define the linkage among these SNPs. : A case-control study with AAA patients (AAA group) and non-AAA controls (control group) was carried out in a study population. DNA was isolated from whole blood samples; the SNPs were amplified using PCR and sequenced. In the AAA group of 148 patients, 87.2% of the patients were male, 64.2% had a history of smoking, and 18.2% had relatives with AAA. The mean ± SD of age, BMI, and aneurysmal diameter in the AAA group were 74.8 ± 8.3 years, 27.6 ± 4.6 kg/m, and 56.2 ± 11.8 mm, respectively. In comparison with 50 non-AAA patients, there was a significantly elevated presence of the SNPs rs7025486[A], rs10757278[G], and rs599839[G] in the AAA group (-values 0.040, 0.024, 0.035, respectively), while rs3798220[C] was significantly higher in the control group ( = 0.049). A haplotype investigation showed that the SNPs , , and rs2228145[C] were significantly elevated in the AAA group ( = 0.037, 0.037, and 0.046) with minor allele frequencies (MAF) of 25.5%, 10.6%, and 15.4%, respectively. Only and showed significantly higher occurrences of a mutation ( = 0.028 and 0.047). Except for , all SNPs were associated with a large aortic diameter in AAA ( < 0.001). Linkage disequilibrium detection showed that to , to , to , and to rs1466535[T] had values of 70.9%, 80.4%, 100%, and 100%, respectively. to and to had values for the coefficient of determination () of 3.9% and 2.2%, respectively. : In the investigated study population, the SNPs rs10757278, rs3798220, rs599839, rs7025486, and rs2228145 were associated with the development of abdominal aortic aneurysms. Individuals with risk factors for atherosclerosis and/or a family history of AAA should be evaluated using genetic analysis.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608078PMC
http://dx.doi.org/10.3390/medicina59101844DOI Listing

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