Publication

Gene-Disease Association Studies

2011
Student Projects

Abstract

Gene-disease associations studies are performed in an increasing number since the creation of the HapMap Project. These studies are used to investigate regions or genes in the genome for which one has an indication or a belief that they can be associated with a particular disease. The aim is to identify the genes that cause the disease. The approach that is commonly used in such studies is the two-stage design method.

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2011
Student Projects

Abstract

Official source

Related concepts (19)

Genome-wide association study

In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.

Genetic association

Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence. Studies of genetic association aim to test whether single-locus alleles or genotype frequencies or more generally, multilocus haplotype frequencies differ between two groups of individuals usually diseased subjects and healthy controls). Genetic association studies are based on the principle that genotypes can be compared "directly", i.e.

Candidate gene

The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. This is in contrast to genome-wide association studies (GWAS), which is a hypothesis-free approach that scans the entire genome for associations between common genetic variants (typically SNPs) and traits of interest. Candidate genes are most often selected for study based on a priori knowledge of the gene's biological functional impact on the trait or disease in question.

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Gene-Disease Association Studies

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