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Utah High-Risk Asthma Pedigree Study

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. Utah Genealogy Data.

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Utah High-Risk Asthma Pedigree Study

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  1. 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

  2. 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

  3. Data Collection Respiratory Health Questionnaire Spirometry Medical Records Single clinician review => asthma phenotype assignment

  4. 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

  5. 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

  6. Genotyping Number pedigrees genotyped 87 Individuals genotyped 1478 affected genotyped 753 Myriad genome-wide MSR marker set n=535 markers

  7. Example asthma pedigree and linkage recombinant mapping

  8. Localization from multiple linked pedigrees 2.0 - 0.0 -

  9. 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

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

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