View clinical trials related to Polymorphism.
Filter by:Current research has shown that an imbalance in the Kinurenine pathway plays a role in the physiopathology of neurogenerative and mental disorders (with a decrease in neuroprotective metabolites and an increase in neurotoxic products). So far the research has concentrated on the enzymes IDO, KAT, KMO, 3HAO and QPRT which are the key players in this pathway. Several polymorphisms affecting these enzymes have been associated with certain disorders characterized by a deregulation of the inflammation and immune response (McCauley et al 2009,Tardito et al 2013, Lee et al 2014), but no studies have ever tried to find a link between these enzymes and suicidal behavior. The investigators hypothesize that people who have attempted to commit suicide will have pro-inflammatory genetic variations affecting the kynurenine pathway.
In this multicentric controlled study, we aims to evaluate effect of caffeine on mental performances during a sleep deprivation protocol. Genetic polymorphisms are considered as a covariable.
Screening of a population of volunteer workers recruited on the occasion of their occupational health visit, within the Ministry of Defense and civil enterprises. The voluntary subjects included will, after signing a consent, take a saliva sample (Kit Oragen DNA OG500) and fill out a computerized questionnaire. A posteriori, the genotyping polymorphisms may be associated with variations in the pharmacokinetics or pharmacodynamics of caffeine will be achieved. The primary objective is to determine whether polymorphisms (alone or in combination) of genes associated with the pharmacokinetics or pharmacodynamics of caffeine are independent risk factors for sleep disorders. The secondary objectives are to determine the frequency of these polymorphisms and to evaluate the consequences of these associations on sleep habits (sleep time, chronotype, quality of sleep), daytime sleepiness, caffeine consumption, antecedents of accidents at work or traffic, drug consumption ...
The increase in the prevalence of diabetes mellitus (DM) is one of the greatest public health challenges worldwide. Epidemiological studies have shown that DM is the leading cause of chronic kidney disease (CKD) in patients initiating renal replacement therapy. In our country, diabetes accounts for about 60% of all incidents of dialysis. On the other hand, CKD is currently considered a noxious disease because patients not only have the likelihood of progression to end-stage renal disease (ESRD), but because these renal alterations are associated with an increased risk of cardiovascular complications and premature death for the same cause. Most studies have focused on traditional risk factors (poor diet, physical inactivity and obesity) for the development and progression of renal damage, and less information exists on non-traditional factors such as oxidative stress and mainly, the low antioxidant response that characterizes both DM and nephropathy. In addition, there is a great variation in the susceptibility to and progression of kidney disease between different populations that is not explained by the presence of traditional factors and that could be triggered by genetic variations and its interaction with other components related to the environment and lifestyle. Fortunately, there is sufficient scientific evidence that early detection and modification of negative lifestyle factors can not only delay or halt the progression of the renal function decline to ESRD but can also significantly reduce the incidence of cardiovascular disease leading to premature death in most of these patients. Therefore, it is suggested that this risk may be determined by the interaction of lifestyle factors with the presence of susceptibility alleles, which may vary from one population to another. It is now known that hyperglycemia causes a state of oxidative stress and inflammation that can be counteracted by diet supplementation with some natural antioxidants such as curcumin. It has been shown that this molecule has multiple pharmacological properties: antioxidant, anti-inflammatory, cardioprotective, renoprotective, among others. In clinical trials a positive effect of curcumin has been seen in the treatment of diabetes and its complications. This has generated a relative optimism in the search for new curcumin treatment targets where oxidative stress is of great relevance, as is the case with CKD. However, there are still doubts about its efficacy as an adjuvant in the prevention of CKD. Additionally, the role played by interindividual variability in genes involved in the mechanism of action of curcumin is still incipient, more studies in this knowledge area are necessary.
Renal transplant patients have on average 3-5 times more risk of developing cancer than the general population. This rate can be increased up to 10 to 15 times in some type of cancer like kidney cancer. Among the identified risk factors, immunosuppressants and, in particular, calcineurin inhibitors (ciclosporin and tacrolimus) play a major role in increasing cancers apart from their depressant effects on the immune system. Calcineurin inhibitors (CCN) are the basis of immunosuppressive therapy in renal transplantation. Several mechanisms have been implicated to explain their pro-oncogenic properties. One related to an increase in VEGF expression seems particularly interesting in the study of renal cell carcinoma in the transplanted patient. Indeed, the physiopathology of kidney cancer has clearly been associated with an increase in the production of VEGF. Furthermore, some polymorphisms of the gene encoding VEGF have already been associated with the survival of patients with renal carcinoma and the circulating level of VEGF in the general population. The search for an association between the polymorphisms of the VEGF gene and renal carcinoma in renal transplant patients could thus identify patients whose risk of renal cell carcinoma (cRCC) post-transplantation is increased. If the involvement of certain polymorphisms in the development of cRCC was confirmed in this population, their research before the introduction of the immunosuppressive treatment would make it possible to direct the choice of treatment towards molecules without pro-oncogenic property in the Patients such as mTOR protein inhibitors (sirolimus, everolimus). This research project is therefore in line with the desire to move towards a more "personalized" medicine that could be beneficial for the patient.
Background: Respiratory diseases affect more than 1 billion people worldwide. They are a growing public health concern. The lungs are constantly exposed to environmental factors such as dust, fumes, microbes, and pollutants. But much is still not known about how these pollutants lead to respiratory illnesses. Researchers want to collect samples from lungs and blood to see how genetics and environmental pollutants affect cellular responses or functioning. Objectives: To study how cytochrome P450 epoxygenase pathway enzymes affect macrophage function in the lungs and inflammatory responses. Eligibility: Adults ages 18 65 who can have a bronchoscopy. Design: All study visits will take place at the NIEHS Clinical Research Unit in Research Triangle Park, NC. At study visit 1, participants will be screened with medical history and physical exam. They will have blood and urine tests. They will take tests that measure their lung function. They will answer questionnaires. Before the visit, they will be given a list of medicines they cannot take. They also must not have caffeine on the day of their visit. The visit will last about 3 hours. At study visit 2, participants will give blood samples. They will undergo bronchoscopy. For this, they will get an intravenous line in a vein to get sedatives. Their airways will be numbed. Cells will be collected from their lungs. They will fast for 8 hours before the visit. They must have someone else drive them home from the visit. The visit will last about 3-4 hours. Participants will get a follow-up phone call about 1 day after study visit 2.
Fat tissue from omenta, thigh and abdomen taken under anesthesia on subjects undergoing laparoscopic surgery, cholecystectomy, reflux surgery or gastric by-pass (GBP). Are there any difference in polymorphids and/or mRNA expression in genes significant for developing obesity, between normal weight and obese individuals, with or without diabetes typ 2 . Are there any difference in polymorphids and/or mRNA expression in different types of fat tissue
COACT registry is a multicenter registry of consecutive patients undergoing coronary stent implantation at 8 centers in the Catholic University of Korea to evaluate the real world management of patients with coronary artery disease and to assess their in-hospital, medium and long-term outcomes.
Aromatase(CYP19)inhibitor is one of the major antihormonal drug for breast cancer in postmenopausal women. The variation of CYP19 may affect the effect of aromatase inhibitor. However, the incidence of variation of CYP19 in Korea has not known. Therefore, the investigators want to know the incidence of variation of CYP19 and to assess the effect of these variations of CYP19 to aromatase inhibitor users.