Genome-wide association study identified 11 genomic loci associated with human intrinsic capacity
Tracks
Ballroom 2
Future Directions
Mental Health
Psychology
Wellness / Well Being
| Thursday, November 14, 2024 |
| 10:15 AM - 10:30 AM |
Speaker
Mr Melkamu Beyene
Phd Candidate
University Of Adelaide
Genome-wide association study identified 11 genomic loci associated with human intrinsic capacity
Abstract
In 2015, the World Health Organization introduced the concept of intrinsic capacity (IC) which is a composite of all the physical and mental capacities of the individual. Understanding the genetic basis of human IC is important for elucidating the biological factors influencing individual variations in functional abilities and resilience. This study investigated the genetic basis of human IC.
Using phenotypic and imputed genetic data (6,439,374 SNPs) from the UK biobank (n= 45,208), we estimated heritability and identified genetic variants associated with IC. The Restricted maximum likelihood method and mixed linear regression model GWAS implemented in Genome-wide complex trait analysis (GCTA) software were used to estimate heritability and identify genetic variants respectively. For biological interpretation of identified genetic markers, we implemented PostGWAS functional annotation and mapping, tissue expression, and pathway analyses.
The heritability of IC was estimated at 25.2% (95%CI: 24.1% , 26.2%) and we identified 317 SNPs, within 11 independent genomic loci mapped to 88 genes expressed in tissues pertinent to functional ability such as Muscle, lung, heart, brain, and nerve tissues, underscoring their relevance in modulating IC. The pathway analysis elucidated the involvement of biological pathways encompassing metabolism, cell-cell adhesion, organ development, programmed cell death, homeostasis, and senescence, highlighting the intricate nature of genetic influences on human IC.
By discovering novel genetic variants and biological mechanisms underlying IC, our findings pave the way for further research and design of possible intervention strategies to enhance functional abilities and promote healthy aging.
Using phenotypic and imputed genetic data (6,439,374 SNPs) from the UK biobank (n= 45,208), we estimated heritability and identified genetic variants associated with IC. The Restricted maximum likelihood method and mixed linear regression model GWAS implemented in Genome-wide complex trait analysis (GCTA) software were used to estimate heritability and identify genetic variants respectively. For biological interpretation of identified genetic markers, we implemented PostGWAS functional annotation and mapping, tissue expression, and pathway analyses.
The heritability of IC was estimated at 25.2% (95%CI: 24.1% , 26.2%) and we identified 317 SNPs, within 11 independent genomic loci mapped to 88 genes expressed in tissues pertinent to functional ability such as Muscle, lung, heart, brain, and nerve tissues, underscoring their relevance in modulating IC. The pathway analysis elucidated the involvement of biological pathways encompassing metabolism, cell-cell adhesion, organ development, programmed cell death, homeostasis, and senescence, highlighting the intricate nature of genetic influences on human IC.
By discovering novel genetic variants and biological mechanisms underlying IC, our findings pave the way for further research and design of possible intervention strategies to enhance functional abilities and promote healthy aging.
Biography
I am currently pursuing a PhD at the University of Adelaide. Prior to this, I spent 14 years at Bahir Dar University in Ethiopia, progressing from an assistant graduate to an associate professor role. During my tenure, I primarily engaged in teaching Biostatistics, Epidemiology, and research methods courses to students across the medicine and health science disciplines, as well as conducting research and contributing to community service initiatives. I also held leadership positions within the university, including as the head of the Department of Epidemiology and Biostatistics, up to the director for registrar and Alumni management.
My academic journey began with a bachelor's degree in applied statistics in 2007, which laid the foundation for my subsequent research and teaching endeavors. I then pursued a Master of Public Health (MPH) in Epidemiology and Biostatistics in 2011.
Throughout my career, I have made significant contributions to the field, including the publication of more than 22 research articles, comprising 21 primary research papers and 1 scoping review. Notably, I have recently published two papers derived from my PhD project within just 1.5 years of enrolment. Today, I am excited to share the findings of my latest (third) research work under my PhD project: an investigation into the genetic basis of human intrinsic capacity.
Session Chair
Dan Wadsworth
Senior Lecturer
University Of The Sunshine Coast
