Pathophysiology of AAA: heredity vs environment

Abstract

Abdominal aortic aneurysm (AAA) has a complex pathophysiology, in which both environmental and genetic factors play important roles, the most important being smoking. The recently reported falling prevalence rates of AAA in northern Europe and Australia/New Zeeland are largely explained by healthier smoking habits. Dietary factors and obesity, in particular abdominal obesity, are also of importance. A family history of AAA among first-degree relatives is present in approximately 13% of incident cases. The probability that a monozygotic twin of a person with an AAA has the disease is 24%, 71 times higher than that for a monozygotic twin of a person without AAA. Approximately 1000 SNPs in 100 candidate genes have been studied, and three genome-wide association studies were published, identifying different diverse weak associations. An example of interaction between environmental and genetic factors is the effect of cholesterol, where genetic and dietary factors affect levels of both HDL and LDL. True epigenetic studies have not yet been published.

Keywords: AAA; Abdominal aortic aneurysm; CI; Cholesterol; Environment; HDL; Heredity; LDL; LRP1; OR; RTL; SNP; Smoking; TAR; Telomere; abdominal aortic aneurysm; confidence interval; high-density lipoprotein; low-density lipoprotein; low-density lipoprotein receptor-related protein 1; odds ratio; relative telomere length; single nucleotide polymorphism; telomere attrition rate.