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Pathophysiology of AAA: Heredity vs Environment
Authors:Martin Björck  Anders Wanhainen
Institution:Department of Surgical Sciences, Section of Vascular Surgery, Uppsala University, Uppsala, Sweden
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  OR  odds ratio  CI  confidence interval  HDL  high-density lipoprotein  LDL  low-density lipoprotein  SNP  single nucleotide polymorphism  LRP1  low-density lipoprotein receptor-related protein 1  RTL  relative telomere length  TAR  telomere attrition rate
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