Approved Research

Phenotypic characterization of genetic variant associations with frailty in chronic diseases

Lay summary

Overview:

Frailty, defined as the age-related decline in functioning that makes patients more vulnerable to other health conditions, is a major contributor to worsening symptoms and loss of life in chronic diseases and the aging population. There is also increased prevalence of frailty in females, and females have a higher risk of mortality due to chronic diseases like COPD, congestive heart failure, and certain types of cirrhosis.

Rationale:

The mechanisms behind frailty are poorly understood, and there are few treatment options. We seek greater understanding the phenotypes and sex differences associated with frailty in relation to chronic diseases like COPD, congestive heart failure, and cirrhosis.

Aims:

We aim to determine the phenotypic characteristics and genetic variants associated with frailty (as defined by loss of skeletal muscle mass and loss of bone mass / bone density) in chronic diseases like COPD, cirrhosis, and congestive heart failure. We also will determine the phenotypic characteristics and genetic risk variants and loss of skeletal muscle mass and loss of bone density by sex, adjusted for comorbidities and therapies.

Public Health Impact:

Better understanding of the genetic variants and sex differences associated with frailty and chronic medical conditions would allow for targeted interventions for patients in the most vulnerable populations. Thus, this project is in line with UK Biobank's purpose to aid in the prevention, diagnosis, and treatment of illnesses and to promote health.