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Family Linkage Study of Obstructive Sleep Apnea (OSA) in Iceland

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Pennsylvania Identifier:
First received: June 2, 2004
Last updated: August 18, 2016
Last verified: August 2016
To study the genetic basis of obstructive sleep apnea using a genealogical approach.

Sleep Apnea Syndromes
Lung Diseases
Insulin Resistance

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by University of Pennsylvania:

Primary Outcome Measures:
  • Genotype [ Time Frame: Baseline ]

Biospecimen Retention:   Samples With DNA
Samples with DNA

Enrollment: 2843
Study Start Date: September 2003
Study Completion Date: July 2008
Primary Completion Date: July 2008 (Final data collection date for primary outcome measure)
Detailed Description:


There is family aggregation of obstructive sleep apnea (OSA) as has been shown in the United States, Europe and recently in Iceland. Iceland represents a unique opportunity for genetic research. It is a community that was settled by founders in the 9 th Century, and has developed in relative isolation since that time to its present size of 285,000 persons. Moreover, there is a commitment to record keeping that has allowed deCODE Genetics, who are collaborators on this grant, to develop a computerized genealogy data base that permits the ancestry of individuals to be traced over centuries. This tool, together with the founder nature of the population, makes possible a unique genealogy-driven approach to study the genetics of complex disorders, an approach that has already been successful.


The study uses patients with obstructive sleep apnea, who have already been diagnosed in Iceland where large family pedigrees have been identified. The study involves a genome-wide family linkage investigation. This will be conducted with an affected only approach examining allele sharing between affected individuals using 1,100 markers spaced across the genome. The investigators plan to oversample the relatively non-obese subjects providing them the opportunity to evaluate linkage in both relatively non-obese and obese subjects. The linkage study will be complemented with an association study, with unrelated cases and controls, matched for age, gender, and menopausal status. In the association study, they will, as a primary aim, test candidate genes arising from the linkage study and, as a secondary aim, evaluate candidate genes that they believe will be identified in the ongoing Cleveland Family Study. A subset of subjects in both the family linkage and association study will have in-depth phenotyping to determine whether there are sub-phenotypes for this complex disorder and, if so, whether they aggregate in families. This in depth phenotyping will involve upper airway magnetic resonance imaging to evaluate upper airway soft tissue and craniofacial structures, acoustic rhinometry to quantify nasal resistance, a known risk factor for the disorder, and insulin resistance. They will explore whether there are distinct patterns of linkage for the different sub-phenotypes. To accomplish this large genetic study, they have put together the resources of three major organizations--the University of Pennsylvania, the University of Iceland Hospitals, and deCODE Genetics. They propose to leverage the truly unique infrastructure developed by deCODE Genetics, the clinical research programs in sleep apnea at the University of Iceland Hospitals, and the in-depth phenotyping expertise at the University of Pennsylvania to accomplish their goals.


Ages Eligible for Study:   18 Years to 70 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Sleep apnea patient cohort
Patients with moderate to severe sleep apnea.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00083798

Sponsors and Collaborators
University of Pennsylvania
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Allan I Pack, M.B., Ch.B., Ph.D. University of Pennsylvania
  More Information

Responsible Party: University of Pennsylvania Identifier: NCT00083798     History of Changes
Other Study ID Numbers: 1251
5R01HL072067 ( US NIH Grant/Contract Award Number )
Study First Received: June 2, 2004
Last Updated: August 18, 2016

Additional relevant MeSH terms:
Sleep Apnea Syndromes
Insulin Resistance
Lung Diseases
Respiration Disorders
Respiratory Tract Diseases
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases
Glucose Metabolism Disorders
Metabolic Diseases processed this record on April 28, 2017