hyperlipoproteinemia type II, diseases of the circulatory system, atherosclerosis, cholesterol of low density lipoprotein (LDL-c)
Conditions
Interventions
Observacioanl study. We will standardized a method for identifying mutations causing familial hypercholesterolaemia and, from this method, we will identified patients with Familial Hypercholesterolemi
Genetics
Other
E05.393.442
Sponsors
Edson Luiz da Silva
Universidade Federal de Santa Catarina
Eligibility
Age
1 Days to 100 Years
Inclusion criteria
Inclusion criteria: Individuals with concentration of low density lipoprotein cholesterol above 160 mg / dL, and their relatives first, second and third degrees. Both genders.
Exclusion criteria
Exclusion criteria: Not include exclusion criteria.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Standardize the method for genotyping all genes of the receptor of low density lipoprotein cholesterol particles. The confirmation of effectiveness of the method will be made by comparing the amplified and sequenced sequence and the standard sequence, using the BLAST algorithm (www.ncbi.nlm.nih.gov/BLAST and Bioedit software (bioedit.software.informer.com). The quality of the sequences obtained will be evaluated through the package Phred/Phrap/Consed (http://www.phrap.org).;Using the standard method, make a definitive diagnosis of the index cases by identifying mutations in the receptor gene of the low density lipoprotein cholesterol. | — |
Secondary
| Measure | Time frame |
|---|---|
| Track the first, second and third degree family of index cases with confirmed diagnosis of familial hypercholesterolemia, and identify in those relatives, the presence of disease-causing mutation, thus confirming the diagnosis of familial hypercholesterolemia.;Trial cardiovascular risk in individuals with and without familial hypercholesterolemia. Evaluate the difference in the levels and prevalence of dyslipidemia in individuals assessed by the concentration of total cholesterol, cholesterol of low density lipoprotein (LDL-C), cholesterol in small, dense fraction of low density lipoprotein (sd LDL), triglycerides, high density lipoprotein cholesterol (HDL-C). To assess the renal and hepatic function through the enzyme creatinine, urea analysis, and aspartate aminotransferase and alanine aminotrasnferase. Expected to observe the occurrence of diabetes and insulin resistance through the glucose analysis, insulin and calculating the homeostatic model assesment (Homai). To observe the prevalence of subclinical inflammation, through the C-reactive protein analysis of high sensitivity (hs-CRP) and uric acid. Expected to observe the prevalence of prehypertension and hypertension, through the measurement of systolic and diastolic blood pressure. Expected to observe the prevalence of overweight and obesity in students, by calculating the body mass index (BMI). The values are presented as mean and standard deviation, or absolute and percentage value. Differences between individuals with and without the disease will be analyzed by Student t-test or Mann Whitney test for parametric and non-parametric data, respectively, and p less than or equal to 0.05 is considered significant. | — |
Countries
Brazil
Contacts
Public ContactHeloisa Cunha
Universidade Federal de Santa Catarina
Outcome results
None listed