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 II: Genes of the Cardiovascular System Genes Involved in the Renin-Angiotensin-Aldosterone System Angiotensin 1 converting enzyme Angiotensinogen Angiotensinogen II receptor, type 1 Bradykinin receptor 2 Genes Involved in Lipid Metabolism Apolipoprotein B (including Ag(x) antigen) Apolipopr
5、otein E Cholesteryl Ester Transfer Protein Coagulation Factor II (thrombin) and Coagulation Factor V (Proaccelerin, Labile Factor) Genes Involved in the Methionine Metabolism 5,10-Methylenetetrahydrofolate reductase Methylenetetrahydrofolate dehydrogenase 1 5-Methyltetrahydrofolate-homocysteine meth
6、yltransferase 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase Thymidylate synthetase Adenosylhomocysteinase Folate hydrolase 1 Endothelial Constitutive Nitric Oxide Synthase Prostaglandin-endoperoxide Synthase 2 Haptoglobin Blood Groups,Genome-Wide Association Studies,A SNP (rs7635
7、18) 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 aortic wall The A allele of a SNP (rs7025486) on 9q33 was found to associate with AAA, This SN
8、P 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 T-allele of the polymorphism c.343GT (p.A115S) was found to be significantly more frequent
9、 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 results show that XT-I polymorphisms potentially confer to the genetic susceptibility of
10、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.,
