TOPMed Harmonized Clinical Variables
The TOPMed Data Coordinating Center curation team has produced forty-four (44) harmonized phenotype variables from seventeen (17) NHLBI studies. The 17 studies whence the 44 clinical variables have been identified, in alphabetic order, are:
Atherosclerosis Risk in Communities Study (ARIC)
Cardiovascular Health Study (CHS)
Cleveland Family Study (CFS)
Coronary Artery Risk Development in Young Adults Study (CARDIA)
Epidemiology of Asthma in Costa Rica Study (CRA)
Framingham Heart Study (FHS)
Genetic Epidemiology Network of Arteriopathy (GENOA)
Genetic Epidemiology of COPD (COPDGene)
Genetics of Cardiometabolic Health in Amish (Amish)
Genetics of Lipid Lowering Drugs and Diet Network Study (GOLDN)
Genome-Wide Association Study of Venous Thrombosis Study (VTE)
Heart and Vascular Health Study (HVH)
Hispanic Community Health Study - Study of Latinos (HCHS_SOL)
Jackson Heart Study (JHS)
Multi-Ethnic Study of Atherosclerosis (MESA)
Study of Adiposity in Samoans (SAS)
Women’s Health Initiative (WHI)
List of harmonized variables:
Variable Name | Variable Description | TYPE | UNITS | VARIABLE_SOURCE | VALUES |
cac_volume_1 | Coronary artery calcium volume using CT scan(s) of coronary arteries | decimal | cubic millimeters | UMLS | ​ |
cac_score_1 | Coronary artery calcification (CAC) score using Agatston scoring of CT scan(s) of coronary arteries | decimal | ​ | UMLS | ​ |
cimt_1 | Common carotid intima-media thickness, calculated as the mean of two values: mean of multiple thickness estimates from the left far wall and from the right far wall. | decimal | mm | UMLS | ​ |
cimt_2 | Common carotid intima-media thickness, calculated as the mean of four values: maximum of multiple thickness estimates from the left far wall, left near wall, right far wall, and right near wall. | decimal | mm | UMLS | ​ |
carotid_stenosis_1 | Extent of narrowing of the carotid artery. | encoded | ​ | UMLS | 0=None||1=1%-24%||2=25%-49%||3=50%-74%||4=75%-99%||5=100% |
carotid_plaque_1 | Presence or absence of carotid plaque. | encoded | ​ | UMLS | 0=Plaque not present||1=Plaque present |
height_baseline_1 | Body height at baseline. | decimal | cm | UMLS | ​ |
current_smoker_baseline_1 | Indicates whether subject currently smokes cigarettes. | encoded | ​ | UMLS | 0=Does not currently smoke cigarettes||1=Currently smokes cigarettes |
weight_baseline_1 | Body weight at baseline. | decimal | kg | UMLS | ​ |
ever_smoker_baseline_1 | Indicates whether subject ever regularly smoked cigarettes. | encoded | ​ | UMLS | 0=Never a cigarette smoker||1=Current or former cigarette smoker |
bmi_baseline_1 | Body mass index calculated at baseline. | decimal | kg/m^2 | UMLS | ​ |
hemoglobin_mcnc_bld_1 | Measurement of mass per volume, or mass concentration (mcnc), of hemoglobin in the blood (bld). | decimal | g / dL = grams per deciliter | UMLS | ​ |
hematocrit_vfr_bld_1 | Measurement of hematocrit, the fraction of volume (vfr) of blood (bld) that is composed of red blood cells. | decimal | % = percentage | UMLS | ​ |
rbc_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of red blood cells in the blood (bld). | decimal | millions / microliter | UMLS | ​ |
wbc_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of white blood cells in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
basophil_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of basophils in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
eosinophil_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of eosinophils in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
neutrophil_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of neutrophils in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
lymphocyte_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of lymphocytes in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
monocyte_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of monocytes in the blood (bld). | decimal | thousands / microliter | UMLS | ​ |
platelet_ncnc_bld_1 | Count by volume, or number concentration (ncnc), of platelets in the blood (bld). | integer | thousands / microliter | UMLS | ​ |
mch_entmass_rbc_1 | Measurement of the average mass (entmass) of hemoglobin per red blood cell(rbc), known as mean corpuscular hemoglobin (MCH). | decimal | pg = picogram | UMLS | ​ |
mchc_mcnc_rbc_1 | Measurement of the mass concentration (mcnc) of hemoglobin in a given volume of packed red blood cells (rbc), known as mean corpuscular hemoglobin concentration (MCHC). | decimal | g /dL = grams per deciliter | UMLS | ​ |
mcv_entvol_rbc_1 | Measurement of the average volume (entvol) of red blood cells (rbc), known as mean corpuscular volume (MCV). | decimal | fL = femtoliter | UMLS | ​ |
pmv_entvol_bld_1 | Measurement of the mean volume (entvol) of platelets in the blood (bld), known as mean platelet volume (MPV or PMV). | decimal | fL = femtoliter | UMLS | ​ |
rdw_ratio_rbc_1 | Measurement of the ratio of variation in width to the mean width of the red blood cell (rbc) volume distribution curve taken at +/- 1 CV, known as red cell distribution width (RDW). | decimal | % = percentage | UMLS | ​ |
bp_systolic_1 | Resting systolic blood pressure from the upper arm in a clinical setting. | decimal | mmHg | UMLS | ​ |
bp_diastolic_1 | Resting diastolic blood pressure from the upper arm in a clinical setting. | decimal | mmHg | UMLS | ​ |
antihypertensive_meds_1 | Indicator for use of antihypertensive medication at the time of blood pressure measurement. | encoded | ​ | UMLS | 0=Not taking antihypertensive medication||1=Taking antihypertensive medication |
race_1 | Harmonized race category of participant. | encoded | ​ | UMLS | AI_AN=American Indian_Alaskan Native or Native American||Asian=Asian||Black=Black or African American||HI_PI=Native Hawaiian or other Pacific Islander||Multiple=More than one race||Other=Other race||White=White or Caucasian |
ethnicity_1 | Indicator of Hispanic or Latino ethnicity. | encoded | ​ | UMLS | both=ethnicity component dbGaP variable values for a subject were inconsistent/contradictory (e.g. over multiple visits)||HL=Hispanic or Latino||notHL=not Hispanic or Latino |
hispanic_subgroup_1 | classification of Hispanic/Latino background for Hispanic/Latino subjects where country or region of origin information is available | encoded | ​ | UMLS | CentralAmerican=Central American||CostaRican=from Costa Rica||Cuban=Cuban||Dominican=Dominican||Mexican=Mexican||PuertoRican=Puerto Rican||SouthAmerican=South American |
annotated_sex_1 | Subject sex, as recorded by the study. | encoded | ​ | UMLS | female=Female||male=Male |
geographic_site_1 | Recruitment/field center, baseline clinic, or geographic region. | encoded | ​ | UMLS | ​ |
subcohort_1 | A distinct subgroup within a study, generally indicating subjects who share similar characteristics due to study design. Subjects may belong to only one subcohort. | encoded | ​ | UMLS | ​ |
lipid_lowering_medication_1 | Indicates whether participant was taking any lipid-lowering medication at blood draw to measure lipids phenotypes | encoded | ​ | UMLS | 0=Participant was not taking lipid-lowering medication||1=Participant was taking lipid-lowering medication. |
fasting_lipids_1 | Indicates whether participant fasted for at least eight hours prior to blood draw to measure lipids phenotypes. | encoded | ​ | UMLS | 0=Participant did not fast_or fasted for fewer than eight hours prior to measurement of lipids phenotypes.||1=Participant fasted for at least eight hours prior to measurement of lipids phenotypes. |
total_cholesterol_1 | Blood mass concentration of total cholesterol | decimal | mg/dL | UMLS | ​ |
triglycerides_1 | Blood mass concentration of triglycerides | decimal | mg/dL | UMLS | ​ |
hdl_1 | Blood mass concentration of high-density lipoprotein cholesterol | decimal | mg/dL | UMLS | ​ |
ldl_1 | Blood mass concentration of low-density lipoprotein cholesterol | decimal | mg/dL | UMLS | ​ |
vte_prior_history_1 | An indicator of whether a subject had a venous thromboembolism (VTE) event prior to the start of the medical review process (including self-reported events). | encoded | ​ | UMLS | 0=did not have prior VTE event||1=had prior VTE event |
vte_case_status_1 | An indicator of whether a subject experienced a venous thromboembolism event (VTE) that was verified by adjudication or by medical professionals. | encoded | ​ | UMLS | 0=Not known to ever have a VTE event_either self-reported or from medical records||1=Experienced a VTE event as verified by adjudication or by medical professionals |
age | age at measurement | decimal | years | ​ | ​ |
​