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Women with TS have varying phenotype and cardiovascular risks. A biomarker assessing the risk for cardiovascular complications could potentially reduce mortality in high\u2010risk TS and reduce screening in TS participants with low cardiovascular risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients, Participants and Measurements<\/jats:title><jats:p>As part of a study initiated in 2002, 87\u00a0TS participants and 64 controls were invited to magnetic resonance imaging\u00a0of the aorta, anthropometry, and biochemical markers. TS participants were re\u2010examined thrice lastly in 2016. The focus of this paper is the additional measurements of transforming growth factor beta (TGF\u03b2), matrix metalloproteinase (MMP's), tissue inhibitor of matrix metalloproteinase (TIMP), peripheral blood DNA and their associations with TS and the cardiovascular risk and congenital heart disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>TS participants had lower TGF\u03b21 and TGF\u03b22 values compared to controls. snp11547635 heterozygosity was not associated with any biomarkers but was associated with increased risk of aortic regurgitation. TIMP4 and TGF\u03b21 were correlated with the aortic diameter at several measuring positions. During follow\u2010up, the antihypertensive treatment decreased the descending aortic diameter and increased TGF\u03b21 and TGF\u03b22 levels in TS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>TGF\u03b2 and TIMP's are altered in TS and may play a role in the development of coarctation and dilated aorta. snp11547635 heterozygosity was not found to impact biochemical markers. Further studies should investigate these biomarkers to further unravel the pathogenesis of the increased cardiovascular risk in TS participants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14907","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T05:34:08Z","timestamp":1678340048000},"page":"545-551","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The TGF\u03b2 system and <i>TIMP1<\/i> and <i>3<\/i> genotypes in Turner syndrome\u2014Relation with aortic congenital malformations"],"prefix":"10.1111","volume":"99","author":[{"given":"Lukas Ochsner","family":"Ridder","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Internal Medicine University Hospital Aarhus Denmark"},{"name":"Medical Research Laboratories Aarhus University Hospital Aarhus 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Hospital Aarhus Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital Aarhus 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