Single nucleotide polymorphisms and the future of genetic epidemiology

Area of Science:

• Genetics
• Epidemiology
• Bioinformatics

Background:

• Genetic polymorphism, particularly single nucleotide polymorphisms (SNPs), is fundamental to understanding human genetic variation.
• Historical use of genetic markers in meiotic mapping for disease gene identification provides context for current SNP initiatives.

Purpose of the Study:

• To review the motivations behind contemporary single nucleotide polymorphism (SNP) initiatives.
• To emphasize the utility of SNPs for genetic epidemiology studies, particularly in large, population-based surveys.
• To describe and critique six key application areas of SNP technologies in human population analyses.

Main Methods:

• Review of contemporary single nucleotide polymorphism (SNP) initiatives and their underlying motivations.
• Discussion of the historical context of genetic polymorphism in gene identification.
• Critical analysis of six distinct application areas for SNP technologies in human population studies.

Main Results:

• SNPs offer significant advantages for human population-based analyses in genetic epidemiology.
• Key application areas include gene discovery, association testing, diagnostics, risk profiling, and physiological genomics.
• Potential challenges and considerations for the effective use of SNPs in various research designs are identified.

Conclusions:

• SNP technologies hold substantial promise for advancing genetic epidemiology and understanding human phenotypes.
• Careful consideration of potential issues is necessary for the successful implementation of SNP-based studies.
• The utility of SNPs extends beyond human studies to other species, including mouse, pathogen, and plant genomes.