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Updated: Jun 4, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Exploring the potential relevance of human-specific genes to complex disease
David N Cooper1, Hildegard Kehrer-Sawatzki
1Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK. cooperDN@cardiff.ac.uk
Human Genomics
|February 8, 2011
Summary
Human-specific genes, often evolving rapidly, are increasingly found to be associated with complex diseases. Analyzing these genes offers new insights into the genetic basis of complex conditions.
Area of Science:
- Genetics
- Evolutionary Biology
- Genomics
Background:
- Human disease genes are typically ancient, but complex disease genes are often more recent.
- Genes unique to humans (human-specific genes) may offer novel insights into complex disease genetics.
Purpose of the Study:
- To investigate the role of human-specific genes in complex diseases.
- To explore the evolutionary origins and selection pressures on genes associated with complex diseases.
Main Methods:
- Cross-comparison of human-specific genes with the Human Gene Mutation Database (HGMD).
- Analysis of mutation types, including missense polymorphisms, in human-specific genes.
- Examination of evolutionary rates and selection pressures (purifying and positive selection) on disease-associated genes.
Main Results:
- Identified disease-causing and disease-associated mutations in putatively human-specific genes.
- Found a significant proportion of missense polymorphisms in these genes linked to complex diseases.
- Observed rapid evolutionary rates in both human-specific genes and genes associated with complex diseases.
Conclusions:
- Human-specific genes represent a promising area for understanding the genetic underpinnings of complex diseases.
- Rapid evolution, driven by weaker purifying or positive selection, may contribute to the role of human-specific genes in complex disease susceptibility.
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