Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals

NCT ID: NCT00365235

Last Updated: 2012-01-12

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 998 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2006-07-31
• Study Completion Date: 2011-06-30

Brief Summary

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.

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.

Conditions

Hyperlipidemia, Familial Combined; Coronary Disease

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: CROSS_SECTIONAL

Eligibility Criteria

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

• Minimum Eligible Age: 10 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: collaborator

University of California, Los Angeles

OTHER

Sponsor Role: lead

Responsible Party

Paivi Pajukanta

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Paivi E. Pajukanta, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

David Geffen School of Medicine at UCLA, Department of Human Genetics

Locations

Instituto Nacional De Ciencias Medicas y Nutricion

Mexico City, , Mexico

Countries

Mexico

Other Identifiers

R01HL082762-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1348

Identifier Type: -

Identifier Source: org_study_id