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Genetics of common complex diseases: a view from Iceland
David O Arnar1, Runolfur Palsson2
1Division of Cardiology, Internal Medicine Services, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
European Journal of Internal Medicine
|April 24, 2017
Summary
Large-scale genetic studies, particularly from Iceland, have identified disease-risk variants for common complex diseases. This genetic insight is paving the way for precision medicine and improved healthcare delivery.
Area of Science:
- Genetics and Genomics
- Internal Medicine
- Computational Biology
Background:
- Large-scale genotyping has revealed numerous sequence variants linked to increased risk for common complex diseases.
- Iceland's extensive genealogy database has been pivotal in facilitating groundbreaking genetic research.
Purpose of the Study:
- To highlight key genetic discoveries in major internal medicine disease categories.
- To explore how genetic findings can inform pathophysiology, diagnosis, and drug therapy.
- To discuss the transition from genetic data to clinical application in precision medicine.
Main Methods:
- Analysis of large-scale genotyping data.
- Review of genetic findings from Icelandic populations.
- Integration of genomic data with clinical observations.
Main Results:
- Identification of sequence variants associated with complex disease risk.
- Examples provided across several major internal medicine disease categories.
- New mechanistic insights into disease pathophysiology derived from genetic studies.
Conclusions:
- Genetic discoveries offer potential for novel diagnostic and therapeutic strategies.
- Advances in high-throughput sequencing will drive future research.
- The era of precision medicine is imminent, promising improved medical care through genetic data utilization.
