Genetic Determinants:Low HDL, High Triglycerides, Obesity
Primary Purpose
Cardiovascular Diseases, Atherosclerosis, Hypertriglyceridemia
Status
Completed
Phase
Locations
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Cardiovascular Diseases
Eligibility Criteria
No eligibility criteria
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00049881
First Posted
November 14, 2002
Last Updated
February 17, 2016
Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
1. Study Identification
Unique Protocol Identification Number
NCT00049881
Brief Title
Genetic Determinants:Low HDL, High Triglycerides, Obesity
Study Type
Observational
2. Study Status
Record Verification Date
January 2005
Overall Recruitment Status
Completed
Study Start Date
April 2002 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
March 2004 (Actual)
3. Sponsor/Collaborators
Name of the Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
4. Oversight
5. Study Description
Brief Summary
To conduct genetic studies of the metabolic syndrome characterized by very low levels of high density lipoprotein cholesterol (HDL-C), hypertriglyceridemia, and obesity.
Detailed Description
BACKGROUND:
Over the past 10 years, extensive studies have been conducted in Turkey to determine the risk factors for heart disease. Studies involving approximately 10,000 Turkish men and women from six different regions of Turkey have established that this population is unique in several ways. The Turks have the lowest plasma levels of high density lipoprotein cholesterol (HDL-C) of almost any population in the world (75 percent of the men and 50 percent of the women have HDL-C levels <40 mg/dl). The mean HDL-C levels are 10-15 mg/dl lower than those in Western European or American populations. In addition, Turks, especially Turkish women, have a tendency toward obesity [38.8 percent of the women have body mass index (BMI) >30 kg/M2], and both men and women have a tendency toward hypertriglyceridemia. The low HDL-C, however, is independent of obesity or hypertriglyceridemia. Samples from this well-characterized population provide a unique opportunity to explore the genetic determinants associated with the high prevalence of low HDL-C, hypertriglyceridemia, and obesity (characteristics of the metabolic syndrome).
The study was in response to a Request for Applications entitled "NHLBI Innovative Research Grant Program" released in July, 2001. The purpose of the initiative was to support new approaches to heart, lung, and blood diseases and sleep disorders that used existing data sets or existing biological specimen collections whether obtained through National Heart, Lung, and Blood Institute support or not.
DESIGN NARRATIVE:
The study analyzed DNA from frozen blood samples to investigate new candidate gene targets that provided insights into the abnormalities characterizing this population of Turks. The samples and extensive biodata were available on all 10,000 participants. In Specific Aim 1, the investigators identified polymorphisms in acyl CoA:diacylglycerol acyltranferase (DGAT)- I and -2 and in ATP-binding cassette A I (ABCA I) genes that were associated with differences in BMI, HDL-C, and triglyceride concentration, and other parameters such as blood pressure. These studies focussed significantly on promoter and coding sequence polymorphisms in DGAT-I and -2 and ABCAL In Specific Aim 2, the investigators determined whether the polymorphisms had functional significance by using a luciferase reporter system to determine expression of polymorphic forms of DGAT and ABCAI, a cholesterol efflux measurement to determine the functional significance of ABCAI coding sequence polymorphic sites, and a triglyceride synthesis assay to determine the functional significance of DGAT-I and -2 polymorphic sites. The polymorphic site association studies were performed on DNA samples from three subgroups of Turks: (a) individuals likely to have the metabolic syndrome, (b) individuals with isolated low HDL-C (normal triglycerides), and (c) normolipidemic unaffected controls.
The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cardiovascular Diseases, Atherosclerosis, Hypertriglyceridemia, Obesity, Heart Diseases, Metabolic Syndrome X
7. Study Design
10. Eligibility
Sex
All
Maximum Age & Unit of Time
100 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
No eligibility criteria
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Robert Mahley
Organizational Affiliation
J. David Gladstone Institutes
12. IPD Sharing Statement
Learn more about this trial
Genetic Determinants:Low HDL, High Triglycerides, Obesity
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