1、主动脉夹层动脉瘤与主动脉真性动脉瘤的单核苷酸多态性研究,Analysis of Candidate Genes by DNA Sequencing The 1 Chain of Type III Collagen Fibulin-2 Matrix Metallopeptidase 2 Tissue Inhibitor of Metallopeptidase 1 and 2 Cholesteryl Ester Transfer Protein Genetic Association Studies Using Known Polymorphisms in Candidate Genes,Grou
2、p I: Genes of the ECMStructure and Remodeling of the Aorta Group II: Genes of the Cardiovascular System Group III: Genes of the Immune System Group IV: Genes of Signaling Pathways,Group I: Genes of the ECMStructure and Remodeling of the Aorta 1 Chain of Type III Collagen Fibrillin 1 Elastin ATP-bind
3、ing Cassette Transporter, Subfamily C (CFTR/MRP), Member 6 Fibulin-5 Family of Matrix Metallopeptidases Tissue Inhibitor of Metallopeptidase 1, 2, and 3 Serine Peptidase Inhibitor, Clade A, Member 1 Serine Peptidase Inhibitor, Clade E, Member 1 Secreted Phosphoprotein 1 Xylosyltransferase 1 Cystatin
4、 C,Group III: Genes of the Immune System Human Leukocyte Antigen Locus Chemokine (C-C motif) Receptor 5 Interleukin 1, Interleukin 1, and Interleukin 1 Receptor Antagonist Interleukin 6 (interferon 2) Interleukin 10 Phospholipase A2, Group VII Tumor Necrosis Factor Peroxisome Proliferator-Activated
5、Receptor Gamma C-reactive Protein Heme Oxygenase (decycling) 1,Group IV: Genes of Signaling Pathways Transforming Growth Factor 1 and Transforming Growth Factor 1-Receptor Transforming Growth Factor 2-Receptor A Dutch study investigated nine different SNPs with two large case-control sets, and two o
6、f the SNPs (rs1036095 and rs4522809) showed an association with AAA in both case-control sets Transforming Growth Factor 3 Latent TGF- Binding Proteins 1, 3, and 4 Several SNPs (nt 4234AG, 10384 GA, 21011AT, 25859CT and 32603CG) in the LTBP4 gene showed an association with AAA growth rates. Estrogen
7、 Receptors 1 and 2 and Progesterone Receptor,Genome-Wide Association Studies,A SNP (rs763518) located on chromosome 3p12.3, a region near contactin-3 (CNTN3) gene, was associated with AAA The CNTN3 protein is a lipid-anchored cell adhesion molecule known to be expressed in nervous tissue213 and aort
8、ic wall The A allele of a SNP (rs7025486) on 9q33 was found to associate with AAA, This SNP is located within DAB2IP, which encodes an inhibitor of cell growth and survival,现有机制,Xylosyltransferase I variants and their impact on abdominal aortic aneurysms. Clin Chim Acta. 2008 May;391(1-2):41-5. The
9、T-allele of the polymorphism c.343GT (p.A115S) was found to be significantly more frequent in AAA patients compared to the healthy control group, demonstrating that carriers of the T-allele have a 5-fold increased risk of developing AAA (odds ratio 4.87, 95%-CI 1.38-17.19; p=0.011). CONCLUSIONS: Our
10、 results show that XT-I polymorphisms potentially confer to the genetic susceptibility of AAA.,高危因素,高同型半胱氨酸血症 HCY增高 J Med Genet. 2008 Nov;45(11):721-30. Epub 2008 Jul 17. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Rs8003379 MTHFD1 31(10):1376-80. Epub 2010 Sep 27. Genetic analysis of six SNPs in candidate genes associated with high cross-race risk of development of thoracic aortic aneurysms and dissections in Chinese Han population.,
