ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
The genetic basis of Turner syndrome aortopathy.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Review
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Diagnostic value of cardiac magnetic resonance imaging during transition care in adolescents with Turner syndrome.Frontiers in pediatrics · 2025Article
- Greater TIMP-1 protein levels and neointimal formation represent sex-dependent cellular events limiting aortic vessel expansion in female rats.IUBMB life · 2024Article
- Echogenomics: Echocardiography in Heritable Aortopathies.Current cardiology reports · 2024Review
- Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation.European journal of pediatrics · 2024Article
- Promising Novel Therapies in the Treatment of Aortic and Visceral Aneurysms.Journal of clinical medicine · 2023Review
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).Orphanet journal of rare diseases · 2022Article
- Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.Journal of the American College of Cardiology · 2022Article
- The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome.Journal of developmental biology · 2022Review
- The Predictive Role of Plasma Biomarkers in the Evolution of Aortopathies Associated with Congenital Heart Malformations.International journal of molecular sciences · 2022Review
- Sex-Related Effects on Cardiac Development and Disease.Journal of cardiovascular development and disease · 2022Review
- A Review of Recent Developments in Turner Syndrome Research.Journal of cardiovascular development and disease · 2021Review
- Review
- Left Ventricular Noncompaction in a Child with Turner Syndrome.Case reports in pediatrics · 2019Article
- Genetics in bicuspid aortic valve disease: Where are we?Progress in cardiovascular diseasesReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC registry. A gene-based burden test, SKAT-O, was used to evaluate the data using bicuspid aortic valve (BAV) and aortic dimension z-scores as covariates. This revealed that TIMP3 was associated with BAV and increased aortic dimensions at exome-wide significance. It had been previously shown that genes on chromosome Xp contribute to aortopathy when hemizygous. Our analysis of Xp genes revealed that hemizygosity for TIMP1, a functionally redundant paralogue of TIMP3, increased the odds of having BAV aortopathy compared to individuals with more than one TIMP1 copy. The combinatorial effect of a single copy of TIMP1 and TIMP3 risk alleles synergistically increased the risk for BAV aortopathy to nearly 13-fold. TIMP1 and TIMP3 are tissue inhibitors of matrix metalloproteinases (TIMPs) which are involved in development of the aortic valve and protection from thoracic aneurysms. We propose that the combination of TIMP1 haploinsufficiency and deleterious variants in TIMP3 significantly increases the risk of BAV aortopathy in Turner syndrome, and suggest that TIMP1 hemizygosity may play a role in euploid male aortic disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.