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Hunting for disease genes in multi-functional diseases
1Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, China. cppang@cuhk.edu.hk
Clinical Chemistry and Laboratory Medicine
|November 30, 2000
Summary
Identifying disease genes is challenging, especially for complex conditions involving multiple genes or environmental factors. Advancements in genomics and technology are crucial for confirming gene identification despite ethnic variations and conflicting research findings.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Thousands of human disease genes, particularly for monogenic diseases, have been identified using various approaches.
- Identifying genes for complex diseases (e.g., atherosclerosis, cancer, Alzheimer's) is difficult due to multiple genetic and environmental factors.
- Conflicting reports and ethnic variations complicate gene association studies for diseases like Alzheimer's and age-related macular degeneration.
Purpose of the Study:
- To explore the challenges in identifying disease-causing genes.
- To highlight the difficulties in complex diseases compared to monogenic disorders.
- To discuss the impact of ethnic variations on gene identification.
Main Methods:
- Functional, positional, and candidate gene approaches.
- Family linkage analysis, gene product investigation, and genome database searches.
- Population-based case-control studies and statistical methods (e.g., sib-ship disequilibrium test).
Main Results:
- Monogenic disease genes are identifiable, but complex disease gene identification remains challenging.
- Conflicting associations exist for genes like alpha2-macroglobulin (A2M) in Alzheimer's disease and ATP-binding cassette transporter (ABCR) in age-related macular degeneration.
- Dissimilar results were observed for LDL-receptor variants and TIGR-MYOC mutations in familial hypercholesterolemia and primary open-angle glaucoma between Chinese and Caucasian populations.
Conclusions:
- Gene identification for complex diseases requires advanced methods and careful consideration of ethnic variations.
- New information from the Human Genome Project and technological advancements are vital for overcoming identification challenges.
- Despite difficulties, ongoing research and technological progress will aid in confirming disease gene identification.