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Related Concept Videos

Olfaction01:25

Olfaction

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The sense of smell is achieved through the activities of the olfactory system. It starts when an airborne odorant enters the nasal cavity and reaches olfactory epithelium (OE). The OE is protected by a thin layer of mucus, which also serves the purpose of dissolving more complex compounds into simpler chemical odorants. The size of the OE and the density of sensory neurons varies among species; in humans, the OE is only about 9-10 cm2.
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The process of olfaction, also known as the sense of smell, is a sophisticated chemical response system. The specialized sensory neurons that facilitate this process, known as olfactory receptor neurons, are situated in an upper segment of the nasal cavity, known as the olfactory epithelium. Olfactory sensory neurons are bipolar, with their dendrites extending from the epithelium's apex into the mucus that lines the nasal cavity. Airborne molecules, when inhaled, traverse the olfactory...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Humans detect odors with the help of specialized cells located in the upper part of the nasal cavity, called olfactory receptor neurons (ORNs). ORNs possess hair-like structures called cilia, which are receptive to sensations from the inhaled air. When an odorant molecule binds to a specific receptor on the cell of the cilia, it leads to a series of events that ultimately cause the ORN to send electrical signals to the olfactory bulb in the brain through the olfactory nerves.
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Olfactory Neurons Obtained through Nasal Biopsy Combined with Laser-Capture Microdissection: A Potential Approach to Study Treatment Response in Mental Disorders
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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), Venusberg-Campus 1/99, Bonn, 53127, Germany.

BMC Genomic Data
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Summary

Researchers identified a new genetic locus linked to olfactory dysfunction through a large genome-wide association study meta-analysis (GWMA). This finding sheds light on the genetic basis of smell impairment and its connections to overall health.

Keywords:
AnthropometricBiochemicalGene-mappingGenome-wide association meta-analysisOdor identification testOlfactory dysfunctionPheWASSense of smellTwo-sample MR

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Area of Science:

  • Genetics
  • Neuroscience
  • Human Health

Background:

  • Olfactory dysfunction is an early indicator of neurodegenerative diseases.
  • It is linked to increased mortality in older adults.
  • The genetic underpinnings of smell dysfunction are largely unknown.

Purpose of the Study:

  • To elucidate the genetic architecture of olfactory dysfunction.
  • To conduct a genome-wide association study meta-analysis (GWMA).

Main Methods:

  • Performed a GWMA with European ancestry participants (N=22,730).
  • Conducted a multi-ancestry GWMA including African ancestry participants (N=1,030).
  • Assessed olfactory dysfunction using a 12-item smell identification test.

Main Results:

  • Identified a novel genome-wide significant locus (rs11228623 at 11q12) associated with olfactory dysfunction.
  • Found enrichment for olfactory receptor genes in the identified region.
  • Demonstrated associations between olfactory dysfunction variants and blood cell counts, kidney function, skeletal muscle mass, cholesterol, and cardiovascular disease, with evidence for causal links.

Conclusions:

  • Provided novel insights into the genetic architecture of the sense of smell.
  • Highlighted the importance of smell for various aspects of human health.
  • Findings may aid in identifying individuals at risk for olfactory dysfunction and associated diseases.