A recent study revealed new biology of abdominal aortic diameter (AAD). The main cause of abdominal aortic aneurysm (AAA) is progressive dilation of the infrarenal aortic diameter. The study identified one replicated locus and one suggestive locus associated with the diameter of infrarenal aortic aorta. The results were published in the journal, Human Molecular Genetics.
The study aimed to investigate the genetic and clinical determinants of abdominal aortic diameter (AAD). The meta-analysis of genome-wide association studies (GWAS) included 10 cohort studies that consisted of 13,542 subjects. Maximum anterior–posterior diameter of the infrarenal aorta was used as AAD.
The study also included exome array data from seven epidemiologic studies. A Mendelian randomization analysis was applied to investigate the effects of clinical risk factors on AAD. Alongside the identification of loci associated with the diameter of the infrarenal aortic aorta, the study found evidence that the main genetic determinants of pulse pressure (PP) and height also casually influence the diameter of the abdominal aorta. Other genetically determined risk factors for vascular-related diseases, on the other hand, had no effect on AAD.
Portilla-Fernandez, E., Klarin, D., Hwang, S. J., et al. VA Million Veteran Program (2022). Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study. Human molecular genetics, 31(20), 3566–3579. https://academic.oup.com/hmg/article/31/20/3566/6540720#376190737