Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms

Makrygiannis, Georgios; Mourmoura, Evanthia; Σπανός, Κωνσταντίνος; Roussas, Nikolaos; Kuivaniemi, Helena; Sakalihasan, Natzi; Tsezou, Aspasia; Giannoukas, Athanasios D.

doi:10.1177/0003319718774474

Cited by 10 publications

(7 citation statements)

References 32 publications

(47 reference statements)

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“…We excluded 779 for following reasons: 82 records because they were case reports/case series, 11 were comments, 10 were editorials, 7 clinical guidelines, 79 were systematic reviews, 13 were meta-analyses that did not include cross-sectional studies on risk factors, 577 were about other topics. A total of 40 papers were considered for systematic review (Figure 1) [4,9,10,11,12,13,15,16,17,18,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62].…”

Section: Resultsmentioning

confidence: 99%

“…In our meta-analysis hypertension presents an effect size of 1.55 and p = 0.039. Regard to the role of hypertension as potential risk factor for AAA some authors [8,37,44,60,63] are in disagreement. Alcorn et al [57] suggest that individuals with hypertension are more likely to be evaluated clinically for the identification of AAA and this leads to a greater number of AAA diagnoses.…”

Section: Discussionmentioning

confidence: 99%

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Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis

Altobelli

Rapacchietta

Profeta

et al. 2018

IJERPH

139

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Abdominal aortic aneurysm (AAA) represents an important public health problem with a prevalence between 1.3% and 12.5%. Several population-based randomized trials have evaluated ultrasound screening for AAA providing evidence of a reduction in aneurysm-related mortality in the screened population. The aim of our study was to perform a systematic review and meta-analysis of the risk factors for AAA. We conducted a systematic review of observational studies and we performed a meta-analysis that evaluated the following risk factors: gender, smoking habits, hypertension, coronary artery disease and family history of AAA. Respect to a previous a meta-analysis we added the funnel plot to examine the effect sizes estimated from individual studies as measure of their precision; sensitivity analysis to check the stability of study findings and estimate how the overall effect size would be modified by removal of one study; cumulative analysis to evaluate the trend between studies in relation to publication year. Abdominal aortic aneurysm prevalence is higher in smokers and in males. On the other hand, while diabetes is a risk factor for many cardiovascular diseases, it is not a risk factor for AAA. In addition, it is important to underline that all countries, where AAA screening was set up, had high income level and the majority belong to Western Europe (United Kingdom, Sweden, Italy, Poland, Spain and Belgium). Abdominal aortic aneurysm screening is fundamental for public health. It could avoid deaths, ruptures, and emergency surgical interventions if abdominal aortic aneurysm was diagnosed early in the population target for screening.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis

Altobelli

Rapacchietta

Profeta

et al. 2018

IJERPH

139

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“…For rare diseases like Marfan or Ehlers-Danlos syndrome, genetic clinical utility has been proven and applied 28 , but for more common complex diseases like AAA, the interpretation and translation of large-scale genetic studies is challenging at best 29 . GWAS-derived association studies were mainly investigated in intracranial and abdominal aneurysm patients 30–35 . The majority of these studies used a genetic risk score (GRS) based on the index SNPs from GWAS to study additional genetic predicting value to models consisting of demographic characteristics and health parameters.…”

Section: Discussionmentioning

confidence: 99%

Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort

Laarhoven

Setten

Herwaarden

et al. 2019

Sci Rep

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Recent genome-wide association studies (GWAS) have discovered ten genetic risk variants for abdominal aortic aneurysms (AAA). To what extent these genetic variants contribute to the pathology of aneurysms is yet unknown. The present study aims to investigate whether genetic risk variants are associated with three clinical features: diameter of aneurysm sac, type of artery and aneurysm related-symptoms in aortic and peripheral aneurysm patients. Aneurysm tissue of 415 patients included in the Aneurysm-Express biobank was used. A best-fit polygenic risk score (PRS) based on previous GWAS effect estimates was modeled for each clinical phenotype. The best-fit PRS (including 272 variants at PT = 0.01015) showed a significant correlation with aneurysm diameter (R2 = 0.019, p = 0.001). No polygenic association was found with clinical symptoms or artery type. In addition, the ten genome-wide significant risk variants for AAA were tested individually, but no associations were observed with any of the clinical phenotypes. All models were corrected for confounders and data was normalized. In conclusion, a weighted PRS of AAA susceptibility explained 1.9% of the phenotypic variation (p = 0.001) in diameter in aneurysm patients. Given our limited sample size, future biobank collaborations need to confirm a potential causal role of susceptibility variants on aneurysmal disease initiation and progression.

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“…[28] GWAS-derived association studies were mainly investigated in intracranial and abdominal aneurysm patients. [29][30][31][32][33][34] The majority of these studies used a genetic risk score (GRS) based on the index SNPs from GWAS to study additional genetic predicting value to models consisting of demographic characteristics and health parameters. A previous study using a GRS including 4 variants showed that a high GRS was associated with aneurysm growth rate independent of baseline abdominal aortic size.…”

Section: Discussionmentioning

confidence: 99%

Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort

Laarhoven

Setten

Herwaarden

et al. 2019

Preprint

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Purpose: Abdominal aortic aneurysms (AAA) have a multifactorial pathology with both genetic and environmental risk factors. Recent genome-wide association studies (GWAS) have discovered ten genetic risk loci for AAA. To what extent these genetic loci contribute to the aneurysm pathology is yet unknown. This study aims to investigate whether genetic risk variants are associated with three clinical features: diameter of aneurysm sac, type of artery and symptoms.Methods: We used aneurysm tissue from 415 patients included within the Aneurysm-Express biobank. A best fit polygenic risk score (PRS) based on previous GWAS effect size estimates was modeled for each clinical parameter by comparing model predictions across different p-value thresholds. Next, the established 10 risk variants for AAA were tested individually for association with selected clinical phenotypes. Models were corrected for age, sex, ancestral background, smoking status and diameter of the aneurysm sac or artery type if applicable, and data was normalized.Results: The best fit PRS (including 272 SNPs with P T =0.01015) showed a significant correlation with diameter of the aneurysm sac (R 2 = 0.019, p = 0.001). No association was found with clinical symptoms or type of artery. Individual variant analysis showed no clear associations with any of the clinical features.Conclusions: Within the Aneurysm-Express Biobank Study, a weighted polygenic score of AAA susceptibility explained 1.9% of the phenotypic variation (p = 0.001) in aneurysm diameter. Individual risk variant analysis showed no clear associations. Given our limited sample size, future biobank collaborations need to confirm a potential causal role of individual SNPs on the pathology of aneurysms.

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Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms

Cited by 10 publications

References 32 publications

Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis

Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis

Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort

Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort

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