11/19/2015 Utah High-Risk Asthma Pedigree Study Lisa Cannon-Albright, PhD Department of Biomedical Informatics University of Utah School of Medicine In.

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Presentation transcript:

11/19/2015 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

11/19/2015 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

11/19/2015 Data Collection Respiratory Health Questionnaire Spirometry Medical Records Single clinician review =>asthma phenotype assignment

11/19/2015 Respiratory Health Questionnaire Modified NHLBI-CSGA -demographics -cough/ triggers -phlegm -wheezing/ triggers -shortness of breath/ triggers -past illnesses bronchitischronic bronchitisbronchopneumoniaemphysema COPDcystic fibrosiseczemanasal polyps - asthma (age, symptoms/season, severity, ER visits, hospitalizations, medications) - hay fever/allergies (age, symptoms/season, shots, triggers) -other disorders in family -smoking history

11/19/2015 Sampling High risk pedigrees (3 or more cases) 198 Number of individuals included in pedigrees7732 Total Number affected1476 Number with complete questionnaires2674 Number with spirometry2106 Total Number with blood sample/cheek swab2766 affected with sample 1017 Number pedigrees genotyped 87 Individuals genotyped1478 affected genotyped 753

11/19/2015 Genotyping Number pedigrees genotyped 87 Individuals genotyped1478 affected genotyped 753 Myriad genome-wide MSR marker set n=535 markers

11/19/2015 Example asthma pedigree and linkage recombinant mapping

11/19/2015 Localization from multiple linked pedigrees

11/19/2015 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

11/19/2015 Acknowledgements Nicola Camp, PhD Craig Teerlink, PhD candidate Robert Crapo, MD Kerry Rowe, PhD Dana Hughes, PhD Multiple clinic coordinators