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AsthmaNCT00005500

Collaborative Studies on the Genetics of Asthma (CSGA)

An observational study of Asthma and Lung Diseases, run by University of Minnesota.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

To conduct molecular genetic studies in human pedigrees in order to identify the major genes responsible for asthma. Read more about this study

Who is it for?
Ages Up to 100 years, men only
Conditions the study is for
Asthma, Lung Diseases
How many people
50 participants
Where
No sites listed yet
Study dates
Sep 1992to Aug 2002
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 100 years
  • Men only
  • No healthy volunteers
  • Child, Adult, Older adult

No eligibility criteria

About this study

To conduct molecular genetic studies in human pedigrees in order to identify the major genes responsible for asthma.

Read the detailed description

BACKGROUND:

Asthma is a respiratory disease characterized by variable airways obstruction, airways inflammation and bronchial hyperresponsiveness (BHR). There are recent increases in asthma mortality and prevalence in the US, especially in African-Americans. Multiple studies suggest that both genetic and environmental factors are important in asthma susceptibility.

The study was recommended by the Pulmonary Diseases Advisory Committee at its February 1991 meeting and given concept approval by the May 1991 National Heart, Lung, and Blood Advisory Council. The Request for Applications was released in October 1992.

DESIGN NARRATIVE:

The CSGA was composed of five centers (Johns Hopkins University, University of Chicago, University of Maryland, University of Minnesota, and a data coordinating center at Wake Forest). At each center, families were ascertained through two siblings with asthma. All family members were characterized with spirometry, bronchial responsiveness to methacholine or reversibility testing, skin-tests and questionnaire data. The initial genome screen was completed on the first 237 sib pairs from three racial groups (African-American, Caucasian and Hispanic), and genotyping on the remaining family members and families was completed before the study was renewed in 1997. Therefore, the initial aim of the CSGA to map susceptibility regions was completed, with detection of several novel chromosomal regions, and replication of several regions previously linked to associated phenotypes.

In order to determine the importance of these regions in asthma susceptibility and the impact of environmental rink factors, the investigators l) evaluated the evidence for linkage in the complete CSGA data using 2-point, multipoint and multilocus approaches for asthma and associated phenotypes (including BHR, total serum IgE and skin test reactivity to standardized allergens); 2) performed fine mapping studies of regions using additional genetic markers to obtain a < 2 cM map; 3) identified candidate genes and novel sequence variants; and 4) characterized a patient population with asthma to study identified variants with respect to asthma severity and bronchial inflammation. These studies allowed identification of asthma susceptibility genes and their variants, interactions with other genes and environmental risk factors, as well as provided insight for the development of improved treatment and ultimate prevention of asthma.

Medical subject headings
Asthma, Lung Diseases

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted26 May 2000 (estimated)
  2. Study startSep 1992
  3. Primary completionAug 2002
  4. Study completionAug 2002

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Retrospective
Enrolment
50 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT00005500
Sponsor's protocol ID
5018
Other IDs
U01HL049609
Status last verified
Oct 2017
First submitted
25 May 2000
Last updated
24 Oct 2017
Results posted
No

Publications

  • Bleecker ER, Postma DS, Meyers DA. Genetic susceptibility to asthma in a changing environment. Ciba Found Symp. 1997;206:90-9; discussion 99-105, 106-10. doi: 10.1002/9780470515334.ch6.

    PubMed 9257007

  • A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nat Genet. 1997 Apr;15(4):389-92. doi: 10.1038/ng0497-389.

    PubMed 9090385

  • Marsh DG. Approaches toward the genetic analysis of complex traits: asthma and atopy. Am J Respir Crit Care Med. 1997 Oct;156(4 Pt 2):S133-8. doi: 10.1164/ajrccm.156.4.12tac11.

    PubMed 9351594

  • Blumenthal MN, Rich SS, King R, Weber J. Approaches and issues in defining asthma and associated phenotypes map to chromosome susceptibility areas in large Minnesota families. The Collaborative Study for the Genetics of Asthma (CSGA). Clin Exp Allergy. 1998 Apr;28 Suppl 1:51-5; discussion 65-6. doi: 10.1046/j.1365-2222.1998.0280s1051.x.

    PubMed 9641593

  • Hizawa N, Collins G, Rafnar T, Huang SK, Duffy DL, Weber JL, Freidhoff LR, Ehrlich E, Marsh DG, Beaty TH, Barnes KC. Linkage analysis of Dermatophagoides pteronyssinus-specific IgE responsiveness with polymorphic markers on chromosome 6p21 (HLA-D region) in Caucasian families by the transmission/disequilibrium test. Collaborative Study on the Genetics of Asthma (CSGA). J Allergy Clin Immunol. 1998 Sep;102(3):443-8. doi: 10.1016/s0091-6749(98)70133-2.

    PubMed 9768586

  • Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B, Gidley H, Kurtz B, Lee J, Nance M, Pettersson A, Prescott J, Richardson A, Schlenker E, Summerhill E, Willadsen S, Parry R. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998 Sep;7(9):1393-8. doi: 10.1093/hmg/7.9.1393.

    PubMed 9700192

  • Mathias RA, Freidhoff LR, Blumenthal MN, Meyers DA, Lester L, King R, Xu JF, Solway J, Barnes KC, Pierce J, Stine OC, Togias A, Oetting W, Marshik PL, Hetmanski JB, Huang SK, Ehrlich E, Dunston GM, Malveaux F, Banks-Schlegel S, Cox NJ, Bleecker E, Ober C, Beaty TH, Rich SS; CSGA (Collaborative Study of the Genetics of Asthma). Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families. Genet Epidemiol. 2001 Apr;20(3):340-55. doi: 10.1002/gepi.5.

    PubMed 11255243

  • Barnes KC, Freidhoff LR, Horowitz EM, Mathias RA, Mulkern DM, Bonacum JT, Goldman MH, Polito AJ, Saini SS, Marsh DG, Beaty TH, Togias A. Physician-derived asthma diagnoses made on the basis of questionnaire data are in good agreement with interview-based diagnoses and are not affected by objective tests. J Allergy Clin Immunol. 1999 Oct;104(4 Pt 1):791-6. doi: 10.1016/s0091-6749(99)70289-7.

    PubMed 10518823

  • Xu J, Meyers DA, Ober C, Blumenthal MN, Mellen B, Barnes KC, King RA, Lester LA, Howard TD, Solway J, Langefeld CD, Beaty TH, Rich SS, Bleecker ER, Cox NJ; Collaborative Study on the Genetics of Asthma. Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma. Am J Hum Genet. 2001 Jun;68(6):1437-46. doi: 10.1086/320589. Epub 2001 May 10.

    PubMed 11349227

  • Langefeld CD, Davis CC, Brown WM. Nonparametric linkage regression. I: Combined Caucasian CSGA and German genome scans for asthma. Genet Epidemiol. 2001;21 Suppl 1:S136-41. doi: 10.1002/gepi.2001.21.s1.s136.

    PubMed 11793656

  • Davis CC, Brown WM, Lange EM, Rich SS, Langefeld CD. Nonparametric linkage regression. II: Identification of influential pedigrees in tests for linkage. Genet Epidemiol. 2001;21 Suppl 1:S123-9. doi: 10.1002/gepi.2001.21.s1.s123.

    PubMed 11793654

  • Meyers DA, Wjst M, Ober C. Description of three data sets: Collaborative Study on the Genetics of Asthma (CSGA), the German Affected-Sib-Pair Study, and the Hutterites of South Dakota. Genet Epidemiol. 2001;21 Suppl 1:S4-8. doi: 10.1002/gepi.2001.21.s1.s4.

    PubMed 11793707

  • Marsh DG. Approaches toward the genetic analysis of complex traits: asthma and atopy. Allergy. 1999 Mar;54(3):198-205. doi: 10.1034/j.1398-9995.1999.00090.x.

    PubMed 10321554

  • Nickel RG, Saitta FP, Freidhoff LR, Yu XY, Ehrlich E, Barnes KC, Beaty T, Huang SK. Positional candidate gene approach and functional genomics strategy in atopy gene discovery. Int Arch Allergy Immunol. 1999 Feb-Apr;118(2-4):282-4. doi: 10.1159/000024100.

    PubMed 10224411

  • Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet. 2000 Feb;66(2):517-26. doi: 10.1086/302781.

    PubMed 10677312

Questions about this trial

What is this clinical trial studying?

An observational study of Asthma and Lung Diseases, run by University of Minnesota.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 24 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT00005500, which also lists 37 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Oct 2017.

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