Utah High-Risk Asthma Pedigree Study

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Utah High-Risk Asthma Pedigree Study

• Lisa Cannon-Albright, PhD
• Department of Biomedical Informatics
• University of Utah School of Medicine
• In collaboration with
• Myriad Genetics, Bayer, and Intermountain
  Healthcare

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Utah Genealogy Data

• Computerized genealogy of Utah pioneers and
  descendants
• Linked to computerized diagnosis data for
  largest health care provider in Utah (serving
  70)
• High risk asthma pedigrees identified and
  recruited

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Data Collection

• Respiratory Health Questionnaire
• Spirometry
• Medical Records
• Single clinician review gt asthma phenotype
  assignment

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Respiratory Health QuestionnaireModified
NHLBI-CSGA

• -demographics
• -cough/ triggers
• -phlegm
• -wheezing/ triggers
• -shortness of breath/ triggers
• -past illnesses
• bronchitis chronic bronchitis bronchopneumonia
  emphysema
• COPD cystic fibrosis eczema nasal polyps
• - asthma (age, symptoms/season, severity,
  ER visits, hospitalizations, medications)
• - hay fever/allergies (age,
  symptoms/season, shots, triggers)
• -other disorders in family
• -smoking history

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Sampling

• High risk pedigrees (3 or more cases) 198
• Number of individuals included in pedigrees 7732
• Total Number affected 1476
• Number with complete questionnaires 2674
• Number with spirometry 2106
• Total Number with blood sample/cheek swab 2766
• affected with sample 1017
• Number pedigrees genotyped 87
• Individuals genotyped 1478
• affected genotyped 753

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Genotyping

• Number pedigrees genotyped 87
• Individuals genotyped 1478
• affected genotyped 753
• Myriad genome-wide MSR marker set n535 markers

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Example asthma pedigree and linkage recombinant
mapping
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Localization from multiple linked pedigrees
2.0 -
0.0 -
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Utah Study

• Strengths
• population-based high-risk pedigrees
• densely sampled
• questionnaire from NHLBI (modified)
• access to medical records/data (phenotypes,
  meds, labs,)
• software for extended pedigrees, association
  analysis of relateds
• uniform/consistent phenotyping
• method development (assoc analysis in
  relateds, extended peds, )
• Collaborations?
• gene identification (chromosomes 5q, 12, 19q)
• medication response phenotypes
• birth weight/ adult BMI associations
• co-morbid conditions associated with
  familial asthma

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Acknowledgements

• Nicola Camp, PhD
• Craig Teerlink, PhD candidate
• Robert Crapo, MD
• Kerry Rowe, PhD
• Dana Hughes, PhD
• Multiple clinic coordinators