The Genome Medicine Journal published a research study on November 9, 2021 with the title: The Genetic Case for Cardio-respiratory Fitness as a Clinical Vital Sign and the Routine Prescription of Physical Activity in Healthcare. The authors represented the Department of Medical & Molecular Genetics, King’s College London, the Social, Genetic and Developmental Psychiatry Centre, King’s College London, Queen Mary University of London and the Institute of Sport Exercise & Health, University College London. The study can be viewed at the following link:
Genetic Research – Cardio-respiratory Fitness as Vital Sign
The objective of this study was to support the scientific case presented by the American Heart Association (AHA) in the Scientific Statement the AHA published on December 16, 2016 with the title: Importance of Assessing Cardiorespiratory Fitness in Clinical Practice: A Case for Fitness as a Clinical Vital Sign. That Scientific Statement and recommendation was based on a growing body of epidemiological and clinical evidence. The AHA Scientific Statement web page can be accessed via the following link:
American Heart Association Scientific Statement
The Genome Medicine Journal study provided supportive genetic evidence for the AHA recommendation that the measurement of CRF become part of a standard clinical assessment of a patient’s health status by a primary care physician. In other words, Cardio-respiratory Fitness should become a regularly measured Vital Sign at every patient-physician visit.
The study performed the largest Genome-Wide Association Study (GWAS) of Cardio-Respiratory Fitness and a GWAS of Physical Activity. The study utilized the data collected by the UK Biobank (UKB) which was a research study of 500,000 + individuals in the United Kingdom. Participants aged 40 to 69 attended 1 of 22 assessment centers between 2006 and 2010.
The UK Biobank (UKB) database collected and compiled a comprehensive range of health-related data which included disease diagnoses and life-style information. Blood samples were collected for genome-wide genotyping for each of the 500,000+ participants in the UKB.
A subset of 70,783 participants in the UKB database included Cardio-respiratory Fitness (CRF) test data and a subset of 89,673 participants included Physical Activity data. The purpose of this study was to identify and describe the genetic contribution to Cardio-respiratory Fitness and Physical Activity.
The study compared the genetic risk profiles for the subset of participants in the UKB which included Cardio-respiratory Fitness (CRF) data to the known genetic risk for anthropomorphic phenotypes ( i.e. the observable physical traits of participants), metabolic traits (i.e. chemical reactions in the body’s cells that convert food into energy) and chronic disease conditions. The study also, separately, compared the genetic risk profiles for the subset of participants in the UKB which included Physical Activity (PA) data to the known genetic risk for anthropomorphic phenotypes, metabolic traits and chronic disease conditions, as above defined.
For the subset of participants in the UKB with Cardio-respiratory Fitness (CRF) test data, Cardio-respiratory Fitness was assessed with a submaximal cycle ramp test using a stationary bicycle. Heart rate data was recorded by a 4 lead electrocardiograph (ECG). The test included a pre-test, exercise and recovery phase. Two (2) measures were derived: CRF-vo2max, an estimate of the maximum volume of oxygen uptake per kilogram of body weight per minute; and CRF-slope, the rate of increase of heart rate.
The Physical Activity test data for the subset of participants in the UKB was measured continuously over a seven (7) day period via the use of a wrist-worn accelerometer.
The study used the UK Biobank’s in-patient hospital episode statistics (diagnoses recorded in ICD-10 codes) to retrieve disease frequency for the top ten global causes of death (as reported by the World Health Organization in 2016) among the subsets of participants with Cardio-respiratory Fitness (CRF) test data and Physical Activity (PA) test data.
MAJOR FINDINGS AND CONCLUSIONS
DISEASE FREQUENCY BY CRF – With increasing levels of CRF-vo2max there were reductions in diagnosis frequency for coronary artery disease, stroke, COPD, lower respiratory tract infection, diabetes mellitus, and kidney disease.
DISEASE FREQUENCY BY PA – With increasing PA there were reductions in diagnosis frequency for coronary artery disease, stroke, lower respiratory tract infections, COPD, diabetes mellitus and kidney disease.
GENETIC VARIATIONS associated with Cardio-respiratory Fitness and Physical Activity affected a small set of genes in the heart, artery, brain, lung, muscle and adipose tissue.
This set of genes were “enriched” among genes associated with coronary artery disease, type 2 diabetes, Alzheimer’s disease, Parkinson’s disease and pulmonary fibrosis’
“GENETIC CORRELATED” lower measures of Cardio-respiratory Fitness and Physical Activity were associated with several “disease risk” factors including greater waist-to-hip ratios, higher body mass index (BMI) measures and obesity.
Additional “GENETIC CORRELATED” disease factors included increased risk for coronary artery disease, type 2 diabetes and shorter lifespan.
CONCLUDING STATEMENT
GIVEN THE GLOBAL HEALTH BURDEN OF NON-COMMUNICABLE DISEASE-RELATED TO LIFESTYLE CHOICES…..REGULAR MEASUREMENT OF CARDIO-RESPIRATORY FITNESS AS A “MARKER” OF HEALTH AND ROUTINE PRESCRIPTION OF PHYSICAL ACTIVITY IS IMPERATIVE.