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Genetic Determinants:Low HDL, High Triglycerides, Obesity

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00049881
Recruitment Status : Completed
First Posted : November 15, 2002
Last Update Posted : February 18, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

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.

Condition or disease
Cardiovascular Diseases Atherosclerosis Hypertriglyceridemia Obesity Heart Diseases Metabolic Syndrome X

Detailed Description:


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.


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.

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Study Type : Observational
Study Start Date : April 2002
Actual Study Completion Date : March 2004

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Triglycerides

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
No eligibility criteria

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00049881

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
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OverallOfficial: Robert Mahley J. David Gladstone Institutes
Layout table for additonal information Identifier: NCT00049881    
Other Study ID Numbers: 1202
R01HL071027 ( U.S. NIH Grant/Contract )
First Posted: November 15, 2002    Key Record Dates
Last Update Posted: February 18, 2016
Last Verified: January 2005
Additional relevant MeSH terms:
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Cardiovascular Diseases
Heart Diseases
Metabolic Syndrome
Nutrition Disorders
Body Weight
Insulin Resistance
Glucose Metabolism Disorders
Metabolic Diseases
Arterial Occlusive Diseases
Vascular Diseases
Lipid Metabolism Disorders