Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction
Mohammed Aslam Imtiaz1, Konstantinos Melas1, Adrienne Tin2
1Population Health Sciences, German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Medrxiv : the Preprint Server for Health Sciences
|August 16, 2024
Summary
This study identified a new genetic locus linked to olfactory dysfunction, a common sign of neurodegenerative diseases. Genetic variants associated with smell loss also relate to blood cell counts, kidney function, and cardiovascular health.
Area of Science:
- Genetics
- Neuroscience
- Human Health
Background:
- Olfactory dysfunction is an early indicator of neurodegenerative diseases and linked to mortality in older adults.
- The genetic underpinnings of smell dysfunction are not well understood.
- Identifying genetic factors is crucial for understanding disease mechanisms and health outcomes.
Purpose of the Study:
- To pinpoint genetic loci associated with olfactory dysfunction in the general population.
- To explore the genetic architecture of the sense of smell.
- To investigate the relationship between smell dysfunction genetics and various health phenotypes.
Main Methods:
- Genome-wide association study meta-analysis (GWMA) in European and multi-ancestry cohorts (N=23,760).
- Olfactory dysfunction assessed via a 12-item smell identification test.
- Phenome-wide association studies and Mendelian randomization analyses were employed.
Main Results:
- A novel genome-wide significant locus (rs11228623 at 11q12) associated with olfactory dysfunction was identified.
- Enrichment of olfactory receptor genes was observed in the associated region.
- Genetic variants for smell dysfunction showed associations with blood cell counts, kidney function, cholesterol, and cardiovascular disease, with evidence of causality.
Conclusions:
- The study reveals novel genetic insights into the sense of smell.
- The findings underscore the importance of olfactory function for overall human health.
- Genetic factors influencing smell may have broader implications for various physiological systems.
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