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Genetic and epigenetic regulation of abdominal aortic aneurysms
dc.contributor.authorMangum, Kevin D.
dc.contributor.authorFarber, Mark A.
dc.date.accessioned2020-06-03T15:23:50Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2020-06-03T15:23:50Z
dc.date.issued2020-06
dc.identifier.citationMangum, Kevin D.; Farber, Mark A. (2020). "Genetic and epigenetic regulation of abdominal aortic aneurysms." Clinical Genetics 97(6): 815-826.
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.urihttps://hdl.handle.net/2027.42/155527
dc.description.abstractAbdominal aortic aneurysms (AAAs) are focal dilations of the aorta that develop from degenerative changes in the media and adventitia of the vessel. Ruptured AAAs have a mortality of up to 85%, thus it is important to identify patients with AAA at increased risk for rupture who would benefit from increased surveillance and/or surgical repair. Although the exact genetic and epigenetic mechanisms regulating AAA formation are not completely understood, Mendelian cases of AAA, which result from pathologic variants in a single gene, have helped provide a basic understanding of AAA pathophysiology. More recently, genome wide associated studies (GWAS) have identified additional variants, termed single nucleotide polymorphisms, in humans that may be associated with AAAs. While some variants may be associated with AAAs and play causal roles in aneurysm pathogenesis, it should be emphasized that the majority of SNPs do not actually cause disease. In addition to GWAS, other studies have uncovered epigenetic causes of disease that regulate expression of genes known to be important in AAA pathogenesis. This review describes many of these genetic and epigenetic contributors of AAAs, which altogether provide a deeper insight into AAA pathogenesis.
dc.publisherWiley Periodicals, Inc.
dc.publisherBlackwell Publishing Ltd
dc.subject.otherlong non‐coding RNA
dc.subject.othermicroRNA
dc.subject.othersingle nucleotide polymorphism
dc.subject.otherabdominal aortic aneurysm
dc.subject.otherchromatin
dc.subject.otherDNA methylation
dc.subject.otherepigenetic
dc.subject.othergenetic
dc.subject.otherhistone modification
dc.titleGenetic and epigenetic regulation of abdominal aortic aneurysms
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/155527/1/cge13705.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/155527/2/cge13705_am.pdf
dc.identifier.doi10.1111/cge.13705
dc.identifier.sourceClinical Genetics
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