Genomewide Search for Loci Underlying Metabolic Syndrome

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: NCT00074451
Recruitment Status : Completed
First Posted : December 15, 2003
Last Update Posted : August 21, 2008
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To identify the genes involved in the metabolic syndrome.

Condition or disease
Metabolic Syndrome X Cardiovascular Diseases Heart Diseases Obesity Hypertension Hyperinsulinism Insulin Resistance

Detailed Description:


Metabolic syndrome, characterized by clustering of multiple metabolic abnormalities including abdominal obesity, dyslipidemia, hyperinsulinemia, hyperglycemia, and hypertension, is one of the most important risk factors for cardiovascular disease and stroke. Genetics play a significant role in determining the individual susceptibility to metabolic syndrome and the inter-individual variation in its associated phenotypes, though these genetic factors remain largely unknown. The long-term goal is to identify the metabolic syndrome susceptibility genes and their functional variants.


The goal of the research is to study the underlying phenotypic structure of the metabolic syndrome and to systematically search for genetic loci predisposing to the metabolic syndrome using the genome scan approach. The specific aims are: (1) to screen about 10,000 sibling pairs aged 40 to 64 years in Anqing, Anhui China, on intermediate phenotypes of the metabolic syndrome including body mass index, waist and hip circumference, serum lipid profiles (triglyceride, HDL-, LDL-, and total cholesterol), fasting serum glucose and insulin level, and blood pressure; (2) to study the underlying phenotypic structure of the metabolic syndrome in the about 10,000 ascertained sibling pairs using factor analysis; (3) to select and genome scan 800 nuclear families from the pool of the ascertained sibling pairs using Weber screening set 10 markers. Each selected nuclear family contains a "proband" and >=3 other family members. The values of the three most significant factors for metabolic syndrome in the factor analysis (see specific aim 2) will be used to classify "proband" status for each subject. A "proband" is defined as having >=2 out of 3 factor values falling into the same side of the 10/90 percentile tails of the corresponding age- and sex-adjusted population distributions; (4) to test for linkage in the genome-scanned families on intermediate phenotypes and factors of metabolic syndrome using the Unified Haseman-Elston method. In addition to the univariate test, linkage analysis will be performed using a novel multivariate version of the Unified H-E method, which has recently been proposed and shown to be significantly more powerful than the univariate test for traits with common genetic determinants; (5) to perform expansion or replication linkage studies on loci identified in the genome scan in 300-400 additional families with >=1 proband with a denser set of markers.

Study Type : Observational
Study Start Date : September 2003
Actual Primary Completion Date : August 2008
Actual Study Completion Date : August 2008

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Ages Eligible for Study:   40 Years to 64 Years   (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): NCT00074451

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Xu Xin Harvard School of Public Health Identifier: NCT00074451     History of Changes
Other Study ID Numbers: 1241
First Posted: December 15, 2003    Key Record Dates
Last Update Posted: August 21, 2008
Last Verified: August 2008

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Metabolic Syndrome X
Insulin Resistance
Pathologic Processes
Glucose Metabolism Disorders
Metabolic Diseases