View clinical trials related to Genetic Predisposition.
Filter by:The Jewish Population is at an increased risk for genetic diseases, especially autosomal recessive, thus, screening should be done to determine carrier status of several genetic diseases. In the Mexican Jewish Community, which is a very diverse community (regarding geographical origins), data of carrier status is unknown. The study aims to determine carrier prevalence for over 300 diseases using commercially available panels.
Studies have shown that the effect of fat mass and obesity-associated (FTO) gene on obesity is modulated by lifestyle factors. Hence, we aimed to determine whether two single nucleotide polymorphisms (SNPs) in the FTO gene are associated with obesity and to assess whether these associations were modified by lifestyle factors. The study included 200 obese and 200 non-obese individuals from Turkey. Our study suggests that the effect of the SNPs on obesity traits is likely to be influenced by lifestyle factors in this Turkish population.
Prospective cohort study to evaluate the feasibility and acceptability of using standardized educational and communication tools to assist in communication of genetic test results to family members. A pre and post test will be administered to consented patients before and after genetic counseling .
A case-control study to identify microbiome and genetic differences between healthy people and patients with incident type 2 diabetes mellitus.
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio analysis (N in total 1350).
The objectives of this trial are to assess the effects of interactions between genetic factors and diet with various macronutrient intake on the metabolic disorders, obesity and type 2 diabetes risk, prevention, development and progress.
Familial gastric cancer accounts for 10% of all cases, but predisposing genetic variations is unknown except for CDH1 mutation. Because Germline mutation is believed to be a key aspect of cancer predisposition, we plan to recruit persons with 2 or more affected family members in three-generation pedigree. The investigators will perform a whole-exome sequencing using DNA from blood samples of families including gastric cancer patients and non-gastric cancer patients
Evidence suggests that repeated or chronic ketamine use, as compared to acute ketamine users, posed a higher clinical risk of developing psychotic disorders, potentially related to the underlying chronic N-methyl-D-aspartate receptor (NMDAR) dysfunction, and a higher risk of suffering from schizophrenia particularly in those genetically susceptible, or genetically predisposed ketamine abusers. With ketamine infusion rises as a emerging hope as an acute treatment for depression and suicidality under the shadow of unknown longer term psychotomimetic effects peculiarly amongst repeated or chronic use, the current case-control study aims to investigate: a) if repeated or chronic ketamine use is associated with an increased risk of psychosis by comparing those ketamine abusers with and without psychosis, and to those non-ketamine-using drug abusers with psychosis; and b) if genetic predisposition from single nucleotide polymorphisms are associated with risk of psychosis in ketamine abusers.
Smoking is the leading cause of avoidable death in the world. Smoking is associated with the development of cardiovascular and respiratory diseases, as well as being considered a leading cause of cancer death. Data show that smokers have increased cardiovascular risk in relation to former smokers, even in comparison with individuals who have had a long and intense history tobacco use. Considering this scenario, some drugs are used in tobacco cessation therapy. The first-line anti-smoking treatments approved by the Food and drug administration ( FDA ) are nicotinic reuptake therapy, bupropion ( norepinephrine and dopamine reuptake inhibitor) and varenicline ( partial agonist of nicotinic receptors composed of subunits alpha4Beta2 ). A metanalysis of 16 clinical studies indicated that smokers treated with bupropion had a higher abstinence rate compared to those receiving placebo - Odds ratio (OR ) - of 1,97 for treatment success. Varenicline is more effective compared to others smoking cessation drugs approved by the FDA, with an OR of 2,27 ( IC 95% 2,02-2,55 ) compared to placebo. However, Varenicline is much more expensive than bupropion. Significant advances in genetics have made the variability of the individual response to drugs, as far as efficacy as well as the rate of adverse effects, begin to be specifically investigated through pharmacogenetics studies.
Venous thromboembolism (VTE) is a common disease in cancer patients and one of the major causes of cancer-associated mortality. Risk for developing VTE increases when cancer patients are receiving chemotherapy. Current risk scores for predicting cancer-associated VTE in ambulatory patients had low/moderate discrimination and clinical sensitivity. These models use clinical and biochemical parameters of the patient. In the development of VTE genetics play a relevant role. The product Thrombo inCode (TiC) assess VTE risk prediction by using a combination of a genetic risk score (GRS) and clinical parameters from the patient. The investigators hypothesized that the GRS included in TiC combined with clinical parameter some of them associated with cancer could be better predicted by TiC than by current risk scores (Khorana score). After publishing the primary results in 2018, we have expanded the GRS in a external validation cohort adding gliomas and biliary tract tumors. Also we have incorporated the assessment of D-dimer in order to improve the predictive capability.