“Into Thin Air” and the Genetics of Complex Traits

Marian, Ali J.; Boerwinkle, Eric

doi:10.1161/01.cir.0000029229.13042.a9

Cited by 2 publications

(2 citation statements)

References 18 publications

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“…4 provides a list of inflammatory gene polymorphisms studied in various AAA populations and the outcomes of these studies. Because of the variability in the patient populations and the size of the population studied, it is difficult to draw any conclusions regarding the role these polymorphisms play in AAA 31,32 . As with atherosclerosis, the genetic background may play only a minor role when compared to the role of risk factors, particularly smoking, hypertension, and hypercholesterolemia in the pathogenesis of AAAs.…”

Section: Polymorphisms Of the Immune Systemmentioning

confidence: 99%

Abdominal Aortic Aneurysm as a Complex Multifactorial Disease

Pearce

Shively

2006

Annals of the New York Academy of Sciences

110

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The role of matrix metalloproteinases (MMPs) in the pathogenesis of abdominal aortic aneurysm (AAA) has focused on the degradation of the extracellular matrix (ECM). The new frontier of MMP biology involves the role of MMPs in releasing cryptic fragments and neoepitopes from the ECM and the impact of MMPs on the regulation of the inflammatory response. The ECM is a complex structure, much more important than an inert scaffold. Both MMP-2 and MMP-9 expose a cryptic epitope that controls angiogenesis. MMPs inhibit angiogenesis through the release of endostatin, endorepellin, arresten, canstatin, and tumstatin. Other breakdown products of the ECM include fragments of fragmin and elastin degradation products (EDPs). In addition, the ECM contains embedded vascular endothelial growth factor (VEGF) and transforming growth factor-beta (TGF-beta). Inflammation is a complex, highly regulated system that involves the identification of injury or infection, response to the injury or infection, repair and healing, and return to normal homeostasis. In some instances, the inflammatory process leads to a pathologic process that is damaging to the host. MMPs play an important role in the control of the inflammatory response through the modification of proinflammatory cytokines, chemokines, and shedding of membrane receptors. Genetic association studies have been performed to help determine the genetic risk associated with certain single nucleotide polymorphisms (SNPs) However, because of the variability in the patient populations and the size of the population, it is difficult to draw any conclusions from these studies. While the etiology of AAA remains unknown, understanding of the inflammatory process and its regulatory points will develop new strategies for the treatment of AAA. Perhaps one difficulty with understanding the pathogenesis of AAA is the lack of precise definition of the phenotype.

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Section: Polymorphisms Of the Immune Systemmentioning

confidence: 99%

Abdominal Aortic Aneurysm as a Complex Multifactorial Disease

Pearce

Shively

2006

Annals of the New York Academy of Sciences

110

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“…5 Bepaalde personen blijken zeer gevoelig voor hoogteziekte; zij krijgen dit bij elke klim weer ondanks een acceptabele stijgsnelheid. 5 Bepaalde personen blijken zeer gevoelig voor hoogteziekte; zij krijgen dit bij elke klim weer ondanks een acceptabele stijgsnelheid.…”

Section: Etiologie Van Hoogteziekteunclassified

Hoogteziekte en de huisartsenpraktijk

Willems¹

2010

BIJB

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“Into Thin Air” and the Genetics of Complex Traits

Cited by 2 publications

References 18 publications

Abdominal Aortic Aneurysm as a Complex Multifactorial Disease

Abdominal Aortic Aneurysm as a Complex Multifactorial Disease

Hoogteziekte en de huisartsenpraktijk

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