ID

44994

Description

Principal Investigator: Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Hypertension https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000297 The **e**lectronic **M**edical **R**ecords and **Ge**nomics (eMERGE) Network is a consortium of five participating sites (Group Health Seattle, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University) funded by the NHGRI to investigate the use of electronic medical record systems for genomic research. The goal of eMERGE is to conduct genome-wide association studies in approximately 19,000 individuals using EMR-derived phenotypes and DNA from linked Biorepositories. Using electronic phenotyping methods, the consortium used DNA samples from all participating sites to explore the genetic determinants of resistant hypertension. Treatment resistant hypertension is a common health problem in the clinical setting. A basic definition of resistant hypertension included subjects with uncontrolled blood pressure despite use of three antihypertensive medications or subjects requiring four or more medications to maintain control. Other conditions, such as secondary causes of hypertension, were exclusions. Site and participants include: *Vanderbilt University*: BioVU, Vanderbilt's DNA databank, is an enabling resource for exploration of the relationships among genetic variation, disease susceptibility, and variable drug responses, and represents a key first step in moving the emerging sciences of genomics and pharmacogenomics from research tools to clinical practice. BioVU acquires DNA from discarded blood samples collected from routine patient care. The biobank is linked to de-identified clinical data extracted from Vanderbilt's EMR, which forms the basis for phenotype definitions used in genotype-phenotype correlations. *Marshfield Clinic*: The Marshfield Clinic Personalized Medicine Research Project is a population-based biobank in central Wisconsin with more than 20,000 adult subjects who provided written, informed consent to access their medical records and provided a blood sample from which DNA was extracted and plasma and serum stored. In addition to an average of 30 years of medical history data, a questionnaire about environmental exposures, including a detailed food frequency questionnaire, is available to facilitate gene/environment studies. *Northwestern University*: The NUgene Project is a repository with longitudinal medical information from participating patients at affiliated hospitals and outpatient clinics from the Northwestern University Medical Center. Participants' DNA samples are coupled with data from a self-reported questionnaire and continuously updated data from our Electronic Medical Record (EMR) representing actual clinical care events. Northwestern has a state-of-the art, comprehensive inpatient and outpatient EMR system of over 2 million patients. NUgene has broad access to participant data for all outpatient visits as well as inpatient data via a consolidated data warehouse. NUgene participants consent to distribution and use of their coded DNA samples and data for a broad range of genetic research by third-party investigators. *Group Health(GH)/University of Washington (UW)*: Aging and Dementia eMERGE study biorepository leverages rich population-based longitudinal data from both electronic medical records and in-depth research data to explore genome wide associations. Participants include Seattle-area members of GH (a large integrated health care system in Washington State) consented and enrolled in 1) the UW Alzheimer's Disease Patient Registry (ADPR) and 2) the Adult Changes in Thought (ACT) study. The ADPR (PI: Eric B. Larson; NIH/NIA U01 AG 006781) is a population-based registry of incident dementia cases designed to identify all new Alzheimer's Disease cases within GH from 1987 to 1996. Medical history, physical, laboratory testing, and neuropsychological testing were performed on all consenting potential cases for determination of dementia status by a consensus conference. The study base of the ADPR population was stable with an attrition rate of less than 1%/year. The ACT study (PI: Eric B. Larson; NIH/NIA U01 AG 006781) is an ongoing community-based cohort study of aging and dementia. The original cohort of 2,581 randomly selected dementia-free members age 65 and older was enrolled in 1994-1996 and expanded by 811 in 2000-2002. Continuous enrollment to maintain a cohort of 2,000 dementia free persons began in 2005. Participants receive biennial assessment including cognitive status determination. The ACT sub-sample is stable; for the original cohort, median enrollment in GH was 19 years prior to joining the ACT study, and 85% of the cohort has ≥ 10 years of GH enrollment. DNA for the ADPR participants were obtained through a companion study, Genetic Differences in Cases and Controls (PI: Walter Kukull; NIH/NIA R01 AG007584). DNA obtained through both studies were extracted from blood using Gentra Systems Puregene methods. DNA concentration is determined by UV optical density. All samples are checked for quality by 260/280 ratio. For long-term storage, samples are aliquoted and stored at -70°C. *Mayo Clinic*: The Mayo biobank is a disease-specific biobank for vascular diseases including peripheral arterial disease (PAD). PAD patients were identified from individuals referred to the non-invasive vascular laboratory for lower extremity arterial evaluation. Since 1997, laboratory findings have been recorded into an electronic database employing an in-house software package for data archiving and retrieval; this data becomes part of the Mayo EMR. Patients referred to the center with suspected PAD undergo a comprehensive non-invasive evaluation including the ankle-brachial index (ABI) - the ratio of blood pressure measured in the upper arms divided by blood pressure measured at the ankles. Controls subjects are identified from patients referred to the Cardiovascular Health Clinic for stress ECG. The prevalence of PAD in patients with normal exercise capacity who do not have inducible ischemia on the stress ECG, was 1%. Data regarding risk factors for atherosclerosis such as diabetes, dyslipidemia, hypertension, and smoking are ascertained from the EMR.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000297

Keywords

  1. 6/23/22 6/23/22 - Dr. Christian Niklas
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA

Uploaded on

June 23, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000297 eMERGE Network Study of Resistant Hypertension

The dataset provides information about bloodpressure measurements, drug treatments used by subjects and basic sociodemographic data.

pht002393
Description

pht002393

Deidentified Subject/eMERGE ID.
Description

subjid

Data type

integer

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3858751
Case/control status.
Description

case_control

Data type

text

Alias
UMLS CUI [1,1]
C3274646
Gender of participant.
Description

sex

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Decade of birth.
Description

decade_birth

Data type

text

Alias
UMLS CUI [1,1]
C0421451
UMLS CUI [1,2]
C2981279
Race of participant.
Description

race

Data type

text

Alias
UMLS CUI [1,1]
C0034510
Age when maximum blood pressure is recorded.
Description

age_observation_max_bp

Data type

integer

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0005823
UMLS CUI [1,3]
C0806909
Years
The pressure of the blood against the artery walls during systole (the contraction phase) - max value.
Description

systolic_blood_pressure_max

Data type

integer

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0871470
UMLS CUI [1,2]
C0806909
mmHg
The pressure of the blood against the artery walls during diastole (the relaxation phase) - max value.
Description

diastolic_blood_pressure_max

Data type

integer

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0428883
UMLS CUI [1,2]
C0806909
mmHg
Age when median blood pressure is recorded.
Description

age_observation_median_bp

Data type

integer

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0005823
UMLS CUI [1,3]
C0876920
Years
The pressure of the blood against the artery walls during systole (the contraction phase) - median value.
Description

systolic_blood_pressure_median

Data type

integer

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0871470
mmHg
The pressure of the blood against the artery walls during diastole (the relaxation phase) - median value.
Description

diastolic_blood_pressure_median

Data type

integer

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0428883
mmHg
The classification of smoking status based on whether an adult has never smoked, or ever smoked, the latter consisiting of current smokers and former smokers.
Description

smoking_status

Data type

text

Alias
UMLS CUI [1,1]
C1519386
The Class of drug listed in study algorithm.
Description

drug_class

Data type

text

Alias
UMLS CUI [1,1]
C5203341

Similar models

The dataset provides information about bloodpressure measurements, drug treatments used by subjects and basic sociodemographic data.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002393
subjid
Item
Deidentified Subject/eMERGE ID.
integer
C2348585 (UMLS CUI [1,1])
C3858751 (UMLS CUI [1,2])
Item
Case/control status.
text
C3274646 (UMLS CUI [1,1])
Code List
Case/control status.
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Control (C28143)
C0009932 (UMLS CUI [1,1])
CL Item
Case (C49152)
C1706256 (UMLS CUI [1,1])
CL Item
Not Assessed (NA)
C3846720 (UMLS CUI [1,1])
Item
Gender of participant.
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant.
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Male (C46109)
C0086582 (UMLS CUI [1,1])
CL Item
Female (C46110)
C0086287 (UMLS CUI [1,1])
CL Item
Not Assessed (NA)
C3846720 (UMLS CUI [1,1])
CL Item
Unknown (U)
C0439673 (UMLS CUI [1,1])
Item
Decade of birth.
text
C0421451 (UMLS CUI [1,1])
C2981279 (UMLS CUI [1,2])
Code List
Decade of birth.
CL Item
1900-1919 (1)
CL Item
1920-1929 (2)
CL Item
1930-1939 (3)
CL Item
1940-1949 (4)
CL Item
1950-1959 (5)
CL Item
1960-1969 (6)
CL Item
1970-1979 (7)
CL Item
1980-1989 (8)
CL Item
>1989 (9)
CL Item
Unknown (99)
CL Item
Missing Value (.)
Item
Race of participant.
text
C0034510 (UMLS CUI [1,1])
Code List
Race of participant.
CL Item
Black or African American (C16352)
C0085756 (UMLS CUI [1,1])
C0005680 (UMLS CUI [2,1])
CL Item
Unknown (C17998)
C0439673 (UMLS CUI [1,1])
CL Item
Native Hawaiian or other Pacific Islander (C41219)
C1513907 (UMLS CUI [1,1])
CL Item
American Indian or Alaska Native (C41259)
C1515945 (UMLS CUI [1,1])
CL Item
Asian (C41260)
C0078988 (UMLS CUI [1,1])
CL Item
White (C41261)
C0007457 (UMLS CUI [1,1])
CL Item
Missing (C43234)
C1705492 (UMLS CUI [1,1])
age_observation_max_bp
Item
Age when maximum blood pressure is recorded.
integer
C0001779 (UMLS CUI [1,1])
C0005823 (UMLS CUI [1,2])
C0806909 (UMLS CUI [1,3])
systolic_blood_pressure_max
Item
The pressure of the blood against the artery walls during systole (the contraction phase) - max value.
integer
C0871470 (UMLS CUI [1,1])
C0806909 (UMLS CUI [1,2])
diastolic_blood_pressure_max
Item
The pressure of the blood against the artery walls during diastole (the relaxation phase) - max value.
integer
C0428883 (UMLS CUI [1,1])
C0806909 (UMLS CUI [1,2])
age_observation_median_bp
Item
Age when median blood pressure is recorded.
integer
C0001779 (UMLS CUI [1,1])
C0005823 (UMLS CUI [1,2])
C0876920 (UMLS CUI [1,3])
systolic_blood_pressure_median
Item
The pressure of the blood against the artery walls during systole (the contraction phase) - median value.
integer
C0876920 (UMLS CUI [1,1])
C0871470 (UMLS CUI [1,2])
diastolic_blood_pressure_median
Item
The pressure of the blood against the artery walls during diastole (the relaxation phase) - median value.
integer
C0876920 (UMLS CUI [1,1])
C0428883 (UMLS CUI [1,2])
Item
The classification of smoking status based on whether an adult has never smoked, or ever smoked, the latter consisiting of current smokers and former smokers.
text
C1519386 (UMLS CUI [1,1])
Code List
The classification of smoking status based on whether an adult has never smoked, or ever smoked, the latter consisiting of current smokers and former smokers.
CL Item
Never Smoker (C65108)
C0425293 (UMLS CUI [1,1])
CL Item
Current Smoker, Every Day Smoker, or Some Day Smoker (C67147)
C3241966 (UMLS CUI [1,1])
CL Item
Former Smoker (C67148)
C0337671 (UMLS CUI [1,1])
CL Item
Unknown if ever smoked (C67151)
C0439673 (UMLS CUI [1,1])
Item
The Class of drug listed in study algorithm.
text
C5203341 (UMLS CUI [1,1])
Code List
The Class of drug listed in study algorithm.
CL Item
Missing (.)
CL Item
Not Assessed (NA)

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