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Abdominal Aortic Aneurysm Genetic Associations: Mostly False? A Systematic Review and Meta-analysis
D T Bradley1, S A Badger2, M McFarland3
1Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Institute of Clinical Sciences, Block B, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Summary
Many reported genetic associations with abdominal aortic aneurysm (AAA) may be false due to flawed study designs. This review identified genuine AAA genetic links and suggests improvements for future research.
Area of Science:
- Genetics
- Cardiovascular Research
- Epidemiology
Background:
- Numerous genetic polymorphisms have been linked to abdominal aortic aneurysm (AAA).
- The validity of these associations is often questionable due to potential biases and methodological issues.
- Distinguishing genuine genetic links from spurious findings is crucial for understanding AAA etiology.
Purpose of the Study:
- To identify genetic polymorphisms reliably associated with abdominal aortic aneurysm (AAA) risk based on current evidence.
- To evaluate the impact of study design and statistical methods on reported genetic associations.
- To provide recommendations for improving the design and conduct of future genetic association studies in AAA.
Main Methods:
- Systematic literature search of MEDLINE, Embase, and Web of Science databases.
- Dual-review of 467 unique articles against predefined inclusion criteria for genetic polymorphisms and AAA risk.
- Quality assessment of 97 included studies, with meta-analyses conducted for variants reported at least twice.
Main Results:
- 63 out of 97 studies reported at least one genetic association with AAA.
- Only 27% of studies performing multiple tests applied corrections for multiple testing.
- Meta-analyses supported associations for polymorphisms in CDKN2BAS, SORT1, LRP1, IL6R, MMP3, AGTR1, ACE, and APOA1.
Conclusions:
- Inadequate correction for multiple testing and flexible study designs contribute to false positive genetic associations in AAA research.
- Significant heterogeneity across studies suggests variations in case mix, geography, and environment.
- Nine genes show strong or moderate evidence of association with AAA, warranting further investigation with improved study designs.
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