Molecular & Clinical Evaluation of Low HDL Syndromes

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: September 25, 2000
Last updated: January 18, 2008
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

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: August 2000
Study Completion Date: July 2006
Primary Completion Date: July 2006 (Final data collection date for primary outcome measure)
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.


Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria
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No Contacts or Locations Provided
  More Information

Publications: Identifier: NCT00006295     History of Changes
Other Study ID Numbers: 912 
Study First Received: September 25, 2000
Last Updated: January 18, 2008
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Cardiovascular Diseases
Arterial Occlusive Diseases
Vascular Diseases processed this record on May 04, 2016