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Molecular & Clinical Evaluation of Low HDL Syndromes

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
University of Maryland Identifier:
First received: September 25, 2000
Last updated: August 19, 2016
Last verified: January 2008
To study the genetic cause of low HDL-C, a risk factor for premature atherosclerotic vascular disease in patients with normal total cholesterol. The focus is primarily on the identification of a single mutation, as has been demonstrated in one family.

Cardiovascular Diseases Heart Diseases Atherosclerosis

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective

Further study details as provided by University of Maryland:

Primary Outcome Measures:
  • Gene discovery [ Time Frame: 20 years ]

Estimated Enrollment: 370
Study Start Date: August 2000
Study Completion Date: July 2006
Primary Completion Date: July 2006 (Final data collection date for primary outcome measure)
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Detailed Description:


Low levels of high density lipoprotein cholesterol (HDL-C) have been found to be associated with an increased risk for coronary artery disease (CAD). However, the genetic basis for this association is not well understood and the clinical implications of this association have not been extensively addressed. The study, in seeking to elucidate the genetic basis for low HDL-C and examine the clinical implications of low HDL-C, focuses upon an important research topic.


Specific aims of the study include: 1) Collection and characterization of plasma and DNA from probands with very low HDL-C. Linkage analysis will be performed using highly polymorphic markers within or near HDL-C candidate genes. The hypothesis to be tested is that polymorphic microsatellites segregate with the low HDL-C phenotype.

2) Further genetic characterization of families evidence of linkage to specific HDL-C candidate genes identified in Specific Aim 1. The hypothesis to be tested is that structural variants in HDL-C candidates are responsible for low HDL-C.

3) Evaluate the physiologic significance of novel genomic variants identified in Specific Aim 2. The hypothesis to be tested is that structural variants will affect expression of the gene product.

4) Examine early atherosclerosis in low HDL-C syndromes. The hypothesis to be tested is that increased carotid intima-medial thickness is prevalent with isolated low HDL-C.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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No Contacts or Locations Provided
  More Information

Publications: Identifier: NCT00006295     History of Changes
Other Study ID Numbers: 912
R01HL061369 ( U.S. NIH Grant/Contract )
Study First Received: September 25, 2000
Last Updated: August 19, 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Arterial Occlusive Diseases
Vascular Diseases processed this record on August 16, 2017