Box 1 Glossary of terms
Genetic epidemiology | The study of the relationship between variation in specific genes and disease risk |
Genomic epidemiology | The study of the relationship between variation across the entire human genome and disease risk |
Haplotype | A set of closely linked alleles that tend to be inherited together |
HapMap project | A multi-country effort to identify and catalog common genetic variants in humans and work out their haplotype structures |
Linkage disequilibrium | The phenomenon that alleles physically close to each other tend to be correlated and are co-inherited as a block of DNA segment |
Microsatellite | A type of DNA sequence variation where there is tandem repetition of a short DNA sequence (usually two to four nucleotides) |
Penetrance | Probability that a deleterious gene variant will actually result in disease |
Polymorphism | Variation in DNA sequence among individuals |
Single nucleotide polymorphism | A type of DNA sequence variation in which a single nucleotide (A, T, C, or G) in the genome sequence is altered |