000008310 001__ 8310
000008310 005__ 20240403153242.0
000008310 0247_ $$2DOI$$a10.6083/p2676w056
000008310 037__ $$aIR
000008310 041__ $$aeng
000008310 245__ $$aDNA methylation analysis of bicuspid aortic valve in turner syndrome
000008310 260__ $$bOregon Health and Science University
000008310 269__ $$a2020
000008310 336__ $$aAbstract
000008310 520__ $$aTurner Syndrome (TS) is a rare cytogenetic disorder caused by the partial or complete loss of a second sex chromosome, which occurs in 1 in 2,000 female live births. The most common cause of early mortality in TS is due to congenital heart defects. Bicuspid Aortic Valve (BAV) is the most common congenital heart defect in the general population with a prevalence of 0.5-2%. TS patients have the highest burden of BAV with a prevalence around 30% with near complete penetrance of aortic disease. It is unknown why there is such a large increase of BAV in TS. TS is associated with genome wide hypomethylation when compared to karyotypically normal female and male controls. Epigenetic alterations in BAV have been found with changes identified in circulating miRNAs and the DNA methylation profiles of patient derived aortic tissue. We hypothesize that BAV is associated with DNA methylation alterations in TS. The purpose of this study is to investigate DNA methylation alterations when comparing 1) BAV to non-BAV in TS and 2) TS BAV to 46,XX Non-Syndromic BAV.
000008310 540__ $$fCC BY
000008310 542__ $$fIn copyright - joint owners
000008310 650__ $$aEpigenomics$$039014
000008310 650__ $$aDNA Methylation$$031400
000008310 650__ $$aBicuspid Aortic Valve Disease$$013334
000008310 650__ $$aTurner Syndrome$$027514
000008310 650__ $$aHeart Defects, Congenital$$019936
000008310 6531_ $$amethyl-capture sequencing
000008310 6531_ $$acytogenetic disorders
000008310 6531_ $$aepigenetics
000008310 691__ $$aSchool of Medicine$$041369
000008310 692__ $$aDepartment of Medical Informatics and Clinical Epidemiology$$041422
000008310 7001_ $$aGutierrez, Jacob$$uOregon Health and Science University$$041354
000008310 7001_ $$aWard, Sam$$uOregon Health and Science University$$041354
000008310 7001_ $$aNevonen, Kimberly$$uOregon Health and Science University$$041354
000008310 7001_ $$aDavis, Brett$$uOregon Health and Science University$$041354
000008310 7001_ $$aVanCampen, Jake$$uOregon Health and Science University$$041354
000008310 7001_ $$aCarbone,Lucia$$uOregon Health and Science University$$041354
000008310 7001_ $$aMaslen, Cheryl$$uOregon Health and Science University$$041354
000008310 711__ $$aResearch Week$$uOregon Health and Science University$$d2020
000008310 8564_ $$965280f8b-3bf7-44f8-b18f-9a24bbdb6779$$s47169$$uhttps://digitalcollections.ohsu.edu/record/8310/files/ResearchWeek.2020.Gutierrez.Jacob.pdf
000008310 905__ $$a/rest/prod/p2/67/6w/05/p2676w056
000008310 980__ $$aResearch Week