ArticleEuropean journal of human genetics : EJHG2010
Association of the TGF-beta receptor genes with abdominal aortic aneurysm.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Women with Abdominal Aortic Aneurysms Have a Different Pattern of Genetic Variability, Compared to Men.Biomedicines · 2026Article
- NCOR1 and NCOR2 Exhibit Distinct Cellular and Transcriptomic Signatures in Human Abdominal Aortic Aneurysm.Biomedicines · 2026Article
- Abdominal Aortic Aneurysm and Liver Fibrosis: Clinical Evidence and Molecular Pathomechanisms.International journal of molecular sciences · 2025Review
- Review
- Association of polymorphisms inOpen medicine (Warsaw, Poland) · 2024Article
- Epigenetic modifications in abdominal aortic aneurysms: from basic to clinical.Frontiers in cardiovascular medicine · 2024Review
- METTL3-METTL14 complex induces necroptosis and inflammation of vascular smooth muscle cells via promoting N6 methyladenosine mRNA methylation of receptor-interacting protein 3 in abdominal aortic aneurysms.Journal of cell communication and signaling · 2023Article
- Review
- Platelets at the Vessel Wall in Non-Thrombotic Disease.Circulation research · 2023Review
- The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Brazilian Society for Angiology and Vascular Surgery guidelines on abdominal aortic aneurysm.Jornal vascular brasileiro · 2023Review
- Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Abdominal Aortic Aneurysm Formation with a Focus on Vascular Smooth Muscle Cells.Life (Basel, Switzerland) · 2022Review
- Cytokines in Abdominal Aortic Aneurysm: Master Regulators With Clinical Application.Biomarker insights · 2022Review
- Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups.BMC ophthalmology · 2021Article
- Genetic and Epigenetic Mechanisms Underlying Vascular Smooth Muscle Cell Phenotypic Modulation in Abdominal Aortic Aneurysm.International journal of molecular sciences · 2020Review
- Stepwise approach to SNP-set analysis illustrated with the Metabochip and colorectal cancer in Japanese Americans of the Multiethnic Cohort.BMC genomics · 2018Article
- Modulation of Immune-Inflammatory Responses in Abdominal Aortic Aneurysm: Emerging Molecular Targets.Journal of immunology research · 2018Review
- Genetic and Epigenetic Regulation of Aortic Aneurysms.BioMed research international · 2017Review
- Ruptured abdominal aortic aneurysm-epidemiology, predisposing factors, and biology.Langenbeck's archives of surgery · 2016Review
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abdominal aortic aneurysm (AAA) is a multifactorial condition. The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA). The TGF-beta pathway may be involved in aneurysm development in general. We performed an association study by analyzing all the common genetic variants in TGFBR1 and TGFBR2 using tag single nucleotide polymorphisms (SNPs) in a Dutch AAA case-control population in a two-stage genotyping approach. In stage 1, analyzing 376 cases and 648 controls, three of the four TGFBR1 SNPs and nine of the 28 TGFBR2 SNPs had a P<0.07. Genotyping of these SNPs in an independent cohort of 360 cases and 376 controls in stage 2 confirmed association (P<0.05) for the same allele of one SNP in TGFBR1 and two SNPs in TGFBR2. Joint analysis of the 736 cases and 1024 controls showed statistically significant associations of these SNPs, which sustained after proper correction for multiple testing (TGFBR1 rs1626340 OR 1.32 95% CI 1.11-1.56 P=0.001 and TGFBR2 rs1036095 OR 1.32 95% CI 1.12-1.54 P=0.001 and rs4522809 OR 1.28 95% CI 1.12-1.46 P=0.0004). We conclude that genetic variations in TGFBR1 and TGFBR2 associate with AAA in the Dutch population. This suggests that AAA may develop partly by similar defects as TAA, which in the future may provide novel therapeutic options.
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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.