View clinical trials related to Gene Polymorphism.
Filter by:Protein convertase subtilisin/kexin type 9 (PCSK9) plays a regulatory role in cholesterol homeostasis by promoting low-density lipoprotein receptor (LDLr) degradation. Although the vast majority of the studies have focused on the role of PCSK9 in LDLr expression in the liver, an increasing body of evidence suggests that PCSK9 gene is also present in extra-hepatic tissues. A recent publication showed for the first time that PCSK9 is expressed in the ischemic heart and the expression is highest in the zone bordering the infarcted areas. Furthermore, the expression of PCSK9 is maximal early, at 1 week of ischemia. Mechanical complications (or cardiac ruptures) are uncommon but potentially lethal sequelae of acute myocardium infarction (AMI) and are commonly associated with early mortality without appropriate surgical intervention. It's unknown why some patients develop these devasting complications following AMI, while others not. Interestingly, studies have shown that post-infarction cardiac rupture affect the border zone between the ischemic and normal area and occur within the first 3 to 5 days after AMI. Based on the aforementioned observations, it's likely to assume a relationship between PCSK9 expression and the development of post-AMI cardiac rupture. Therefore, the main purpose of the this project is to study the PCSK9 gene polymorphism and its association with cardiac rupture. Investigators hypothesize that PCSK9 expression/secretion and development of post-AMI cardiac rupture may be a part of the dynamic changes at cellular levels occurring in the ischemic heart of genetically predisposed patients.
The Vitamin D receptor gene (VDR) polymorphisms are the candidate genetic variants for susceptibility to autoimmune diseases. In the present study, the investigators aimed to assess the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in Chinese Han population.The patients with MG and healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information on age at onset, acetylcholine receptor antibody (AChR-Ab) and muscle-specific kinase antibody (MuSK-Ab) status, thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. Intergroup comparisons of allele and genotype frequencies, haplotype distributions were performed between MG group and the control group, and between each pair of MG subgroups.
Periodontitis is one of the most common oral diseases, which is characterized by alveolar bone resorption and destruction. In China, as a major country in the incidence of periodontitis, there is a huge population of patients with severe periodontitis, and the incidence rate is as high as 12.1-16.1% . Previous studies have suggested that the prevalence and severity of periodontal disease increase with age. However, recent articles on meta analysis and related epidemiological investigations suggest that the prevalence of severe periodontitis does not increase with age, and the prevalence of SP remains at about 10% even in the elderly. In order to comprehensively analyze the risk factors of this population, it is inseparable from the analysis of gene polymorphism. At present, it is considered that the main genes that may be related to the severity of periodontitis are IL-1 α-889, rhIL-talk 1 β + 3953, 6-174, 10-597, CD14-260, CD14-159, MMP1-1607 and so on, which may be related to the severity of periodontitis.
1. To explore the relationship between the changes of plasma concentration of abiraterone acetate after taken orally on fasting or postprandial and gene polymorphism. 2. Study of drug Metabolite profiling after oral administration of abiraterone acetate on fasting and postprandial in Chinese adults.