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Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Paivi Pajukanta, University of California, Los Angeles Identifier:
First received: August 16, 2006
Last updated: January 11, 2012
Last verified: January 2012
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD). The purpose of this study is to identify the specific genes that predispose Mexican individuals to FCHL.

Hyperlipidemia, Familial Combined
Coronary Disease

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Susceptibility to Common Lipid Disorders in Mexico

Further study details as provided by University of California, Los Angeles:

Primary Outcome Measures:
  • Identifying the specific genes that predispose Mexican individuals to FCHL [ Time Frame: Measured through the use of genetic samples ]

Biospecimen Retention:   Samples With DNA
Whole blood sample is taken from all participants and adipose tissue sample from a subgroup.

Enrollment: 998
Study Start Date: July 2006
Study Completion Date: June 2011
Primary Completion Date: June 2011 (Final data collection date for primary outcome measure)
Detailed Description:

CHD is the leading cause of death in Mexico. Dyslipidemia that is characterized by high total cholesterol, high triglycerides, and low "good" high-density lipoprotein (HDL) cholesterol is a risk factor for developing CHD. Research has shown that the Mexican population has an increased tendency towards dyslipidemia, but it is not known what genetic factors contribute to this predisposition. This study will examine the genetic basis of FCHL, which is an inherited form of dyslipidemia characterized by elevated levels of total cholesterol and triglycerides. FCHL is a major contributing factor in CHD; 20% of individuals with CHD under the age of 60 have FCHL. The purpose of this study is to identify and characterize the specific DNA sequence variations that predispose Mexican individuals to FCHL. Results of this study may aid in the development of appropriate prevention and screening techniques.

This study will enroll individuals in Mexico who have FCHL. Participants will attend one study visit for blood collection and DNA sampling. Family members of participants will be contacted and asked to provide a DNA sample also. A select group of participants will return for a second study visit for RNA sampling. Study researchers will analyze participants' DNA and RNA samples, as well as two FCHL genes identified in previous research studies.


Ages Eligible for Study:   10 Years to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Study subjects are Mexicans visiting the Dyslipidemia Clinic at the Instituto Nacional de Ciencias Medicas y Nutricion, Salvador Zubiran, Mexico City, and their family members

Inclusion Criteria:

  • Elevated levels of serum total cholesterol, triglycerides, or both
  • Elevated levels of serum apolipoprotein B (using the Mexican population percentiles)

Exclusion Criteria:

  • Tendon xanthomas
  • Kidney disease
  • Thyroid disorder
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00365235

Instituto Nacional De Ciencias Medicas y Nutricion
Mexico City, Mexico, 14000
Sponsors and Collaborators
University of California, Los Angeles
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Paivi E. Pajukanta, MD, PhD David Geffen School of Medicine at UCLA, Department of Human Genetics
  More Information

Responsible Party: Paivi Pajukanta, Professor, University of California, Los Angeles Identifier: NCT00365235     History of Changes
Other Study ID Numbers: 1348
R01HL082762-01A1 ( US NIH Grant/Contract Award Number )
Study First Received: August 16, 2006
Last Updated: January 11, 2012

Additional relevant MeSH terms:
Coronary Disease
Coronary Artery Disease
Hyperlipidemia, Familial Combined
Lipid Metabolism Disorders
Metabolic Diseases
Myocardial Ischemia
Heart Diseases
Cardiovascular Diseases
Vascular Diseases
Arterial Occlusive Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn processed this record on May 25, 2017