Correlation among Six Single Nucleotide Polymorphisms Related to Cell Survival, Inflammation and Lipoprotein Regulation for Abdominal Aortic Aneurysm Risk Factor

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Abstract

Objectives Genetic disposition plays a role in up to 20% of all abdominal aortic aneurysm (AAA), with a prevalence of 13-19% for first-rate relatives. Meta-analyses of different genome association studies have identified various genes with high evidence for AAA. The purpose of this study is to identify six single nucleotide polymorphisms (SNPs) correlating with AAA in order to identify them as predictor of AAA with simple blood screening. Those functional SNPs are low density lipoprotein receptor-related protein 1 rs1466535 C/T, DAB2-interacting protein rs7025486 G/A (cell growth and survival), CDKN2B-AS or ANRIL rs10757278 A/G (cell proliferation and apoptosis), sortilin1 rs599839 A/G (LDL cholesterol circulation), interleukin-6 receptor rs2228145 A/C, and lipoprotein-A rs3798220 T/C. Methods In this case-control, single-centered study, patients with AAA diagnosis or without AAA (controls) were recruited from consulting hours. Ethical approval was obtained before patients were recruited. According to the sample size estimation, 150 AAA and 60 control patients were planned. Inclusion criteria were adult AAA and consent to the study, exclusion criteria were known connective tissue disorders or HIV/Hepatitis C infection or missing consent. DNA was isolated from 8.5 ml of whole blood in PAXgene Blood DNA tubes (PreAnalytiX) with the PAXgene Blood DNA Kit. After PCR, the PCR products were detected in 1.8% agarose gel and the relevant PCR products were purified with PeqGOLD Microspin Cycle-Pure Kit (VWR International). Sequencing was performed using the Sanger method (GATC Biotech AG) and the evaluation was done by SNAPGene Viewer (GSL Biotech LLC), Clustal Omega (EMBL-EBI) and statistics with SPSS 25 (IBM) software. Results Intermediate results from 52 patients (39 AAAs/13 controls) revealed no significant differences in the expression of the investigated SNPs within the two groups. The p values and frequencies of heterozygote and rare homozygote between AAAs and controls in rs1466535, rs7025486, rs10757278, rs599839, and rs2228145 were 0.270 (13%/3%); 0.454 (7%/0%); 0.670 (28.2%/15.4%); 0.709 (41%/15.4%); 1.0 (3%/1%), respectively. For rs3798220 no polymorphism could be detected. There was no significant correlation between those SNPs with AAA risk. Conclusions There is no correlation between polymorphism of the tested SNPs with AAA. Despite of this result, larger sample will lead to a new perspective.

Speakers from the University of Münster

Sielker, Sonja	Clinic for Cranio-Maxillofacial Surgery
Torsello, Giovanni	Clinic for vascular and endovascular Surgery