基因多态性与冠心病.ppt

Gene Polymorphisms and Coronary Heart Disease Fang Zheng Clinic Lab, Zhongnan Hospital, Wuhan University What’s normal polymorphism? Polymorphism and Mutation They are both single nucleotide poly-morphism，SNP. polymorphism－－normal phenotype mutation －－disease polymorphism－－more mutation －－less Cardiovascular disease is complex as a consequence of pleiotropy. These included environmental and genetics factors. Gene polymorphism played an important role in the occurrence and development of cardiovascular disease. And it can be applied on the prediction, diagnosis, treatment and prognosis. 1. The gene polymorphisms as independent risk predictors An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease. ApoE gene polymorphism is related to coronary heart disease. E23K polymorphism in KCNJ11 gene has relationships with coronary heart disease. 1.3 The Apolipoprotein (Apo)E gene polymorphism and CHD Apolipoprotein E gene is located on chromosome 19q13.2. ApoE plays a critical role in the formation of very low density lipporotein(VLDL) and chylomicrons. Genetically, ApoE is polymorphic isoforms of proteins, E2, E3, E4 respectively. The ApoE alleles modulate the risk for CHD, cerebral aheroscerosis and Alzheimer’s disease. The results presented here do not suggest a positive association between HindIII, TaqI, MspI, and 3076A/C polymorphisms in FN gene and CHD. We didnt find any relationship between four polymorphism in fibronectin gene and CHD. But a non difference does not imply a non effect. But we found pFN levels in circulation were decreased significantly in patients with CHD. 1.6 Interleukin-1β gene and CHD Interleukin-1β (IL-1 β) belongs to a family of cytokines including IL-1, IL-4, IL-8, IL-10, and IL-13. IL-1 β plays a dominant role in several immune reactions IL-1β also was found to associate to atherosclerotic events in vitro and in vivo. Polymorphism analyze Comparison of distribution