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Optimal Approach for Analysis of Case-Control Genetic Association Studies

This study is ongoing, but not recruiting participants.

Sponsored by: National Heart, Lung, and Blood Institute (NHLBI)
Information provided by: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT00241709
  Purpose

The purpose of this study is to examine the effectiveness of approaches to correct for the effects of population stratification on case-control genetic association studies.


Condition
Lung Diseases
Asthma

MedlinePlus related topics:   Asthma   

U.S. FDA Resources

Study Type:   Observational
Study Design:   Natural History, Case Control
Official Title:   Case-Control Association Studies and Genetic Confounding

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

Estimated Enrollment:   800
Study Start Date:   August 2005
Estimated Study Completion Date:   July 2010

Detailed Description:

BACKGROUND:

In racially admixed populations, genetic associations may be confounded by population stratification. To control for population stratification, statistical methods that use marker genotype data to infer population structure have been proposed as an alternative to family-based tests of association. However, there are limited empirical data on how these methods perform in real populations. This study will use well characterized populations of Mexican and Puerto Rican asthmatics, their parents, and control subjects recruited from the same sites to examine the effectiveness of approaches to correct for the effects of population stratification on case-control genetic association studies.

DESIGN NARRATIVE:

This study has three specific aims: 1) To test and compare methods of detecting and correcting for population stratification, the study will genotype a total of 100 ancestral informative markers (AIMs) for 400 asthma cases and an equal number of control subjects. These AIMs will then be used with three statistical methods developed to detect and correct for population stratification. The number and characteristics of markers required to correct false positive associations between AIMs, asthma, and asthma quantitative traits will be evaluated and compared; 2) To compare the power of genomically adjusted case-control studies to the Transmission Disequilibrium Test (TDT). An allele from each of the 100 AIMs will be considered as a risk factor for a simulated "phenotype." The association between phenotypes and each AIM will be tested with the TDT and with a case-control analysis after adjustment for stratification to compare the false negative rates for these study designs. 3) To use the results from aim 1 and 2 to define an optimal approach for analysis and interpretation of case-control association studies in these populations and apply this approach to analyze the association between asthma and a series of candidate genes. The results of these studies should provide important insights into optimal methods to control for population stratification in case-control association studies, thereby facilitating the inclusion of admixed populations in future genetic studies of complex diseases such as asthma.

  Eligibility
Ages Eligible for Study:   8 Years to 40 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Criteria

No eligibility criteria; this study will be using existing blood samples of Mexican and Puerto Rican asthmatics, their parents, and control participants who were recruited prior to the study.

  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00241709

Locations
United States, California
University of California, San Francisco    
      San Francisco, California, United States, 94143

Sponsors and Collaborators

Investigators
Principal Investigator:     Esteban Gonzalez Burchard, MD     University of California School of Medicine, San Francisco    
  More Information


Study ID Numbers:   1309, R01 HL78885
First Received:   October 17, 2005
Last Updated:   October 12, 2006
ClinicalTrials.gov Identifier:   NCT00241709
Health Authority:   United States: Federal Government

Study placed in the following topic categories:
Respiratory Tract Diseases
Lung Diseases
Asthma

ClinicalTrials.gov processed this record on October 17, 2008




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