| Title: | Comparing polygenic risk and predicted loss-of-function (pLoF) variants in a healthy ageing cohort (ASPREE) with the UK Biobank, across a range of disease and health-related phenotypes |
| Lead Institution: | Monash University |
| Principal investigator: | Dr Paul Lacaze |
Application 47061
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About
Our research aims to determine if genetic risk factors seen in the UK Biobank are the same as those seen in a healthy elderly population from Australia (the ASPREE cohort). In particular, we'd like to test whether there are differences in the frequency or severity of known genetic risk factors between the two populations. We would also like to test for protective genetic factors in the healthy elderly, which might off-set disease risk. Aim 1: To compare the distribution and frequency of common genetic risk factors (inferring risk of common disease) between the UK Biobank and the ASPREE cohort. Aim 2: To compare the frequency, distribution and medical relevance of rare, damaging genetic risk factors between the populations, and determine if they are depleted in the healthy elderly across a range of disease outcomes. Aim 3: To compare the frequency, distribution and medical relevance of protective genetic factors in the healthy elderly. This project is expected to last for many years, as we plan to continue to monitor the health of the ASPREE healthy elderly population for another 5 years, or more. The public health impact of our research includes improving the understanding of human genetic variation, helping understand how genetic factors contribute to disease risk, and helping understand how genetic factors may contribute to positive health outcomes, such as healthy ageing. This is particularly relevant given the growing burden of ageing populations in many countries around the world, and the uncertainty with regards to the contribution of genetic versus environmental factors.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 8374 | Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene | Chenglong Yu (+16) | 2023 | Journal of the American Heart Association |
| 9715 | Sex-dependent associations of plasma high-density lipoprotein cholesterol and mortality risk in healthy older men and women: two prospective cohort studies | Sultana Monira Hussain (+10) | 2023 | GeroScience |
Enabling scientific discoveries that improve human health