Vanderbilt University

ACE Inhibitor (ACE-I) induced cough

ACE-I induced cough is a common side effect of use of ACE inhibitors, one of the most common class of antihypertensives.  The frequency of ACEI-induced cough varies based on ancestry.  A GWAS of ACEI cough using this algorithm in the eMERGE Network identified KCNIP4 as associated with this phenotype, which was validated in two replication cohorts. 

Cases are those with ACEI cough.  Controls are those exposed to ACEI without adverse events noted and not switched to angiotensin receptor blockers (ARBs).  

Algorithm validated - December 12, 2012.

Owner Phenotyping Groups: 
eMERGE Vanderbilt Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

Atrial Fibrillation - Demonstration Project

Atrial Fibrillation phenotype algorithm for the DNA Demonstration project.  The algorithm selects cases based on atrial fibrillation but no presence of a heart transplant.  Controls select for records with no evidence of atrial flutter, atrial fibrillation, or atrial tachycardia but with at least one ECG.

 

 

Diagnostic Codes?

Text Keywords?

Owner Phenotyping Groups: 
Vanderbilt - SD/RD Group
View Phenotyping Groups: 
Vanderbilt - SD/RD Group
Final

Clopidogrel Poor Metabolizers

Note: Attached documents contain full case definition and two different control definitions.  One is for controls with 2 years of follow up, the other for controls with 1 year of follow up.  All available controls with 2 years of follow up were used in Vanderbilt's study.  The control population was supplemented by controls with only 1 year of follow up.  At the time of study, many of the available controls had experienced their qualifying events somewhat recently and 2 years had not yet passed for full follow up.

 

Owner Phenotyping Groups: 
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
View Phenotyping Groups: 
Denny’s Group at Vandy
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

Crohn's Disease - Demonstration Project

Crohn's Disease phenotype algorithm for the DNA DataBank Demonstration Project.  Case records are required to have more than 2 occurrences of ICD 9 codes and medications.  Control records are required to not have ICD 9 codes or keyword mention of crohn* or Regional enteritis and excludes additional phenotypes as defined by ICD 9 codes and keywords.

Data source summary:

 

Diagnostic Codes?

Owner Phenotyping Groups: 
Vanderbilt - SD/RD Group
View Phenotyping Groups: 
Vanderbilt - SD/RD Group
Final

Hypothyroidism

Project Outline:  Selection of all Caucasian patients with hypothyroidism without a secondary cause of surgical removal or radiological ablation.  The search is designed to eliminate subclinical hypothyroidism (by requiring that patients be on a replacement medication), medication-induced hypothyroidism (e.g., PTU, lithium, or history of amiodarone), and transient causes (e.g., pregnancy or subacute thyroiditis).

Owner Phenotyping Groups: 
eMERGE Vanderbilt Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

Peanut Allergy

Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes.  Over the last 20-30 years, food allergy has grown into a major public health problem.  Peanut allergy is a common type of food allergy that accounts for a disproportionate number of fatal and near-fatal anaphylactic events amongst all the common food allergens.

Owner Phenotyping Groups: 
eMERGE Vanderbilt Group
Vanderbilt - SD/RD Group
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
View Phenotyping Groups: 
eMERGE Vanderbilt Group
NIH Collaboratory Group
Vanderbilt - SD/RD Group
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

PGx medication risk prediction model

This algorithm predicts those who are going to be exposed to warfarin, simvastatin, or clopidogrel as three medications that have known pharmacogenomic influences.  This algorithm was used to select individuals for the Vanderbilt PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment) program, which prospectively tests individuals at risk of needing medications whose efficacy is effected by genetic variants.  

 

For more information on PREDICT, see http://mydruggenome.org.

Owner Phenotyping Groups: 
eMERGE Vanderbilt Group
View Phenotyping Groups: 
Denny’s Group at Vandy
eMERGE Phenotype WG
Final

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