The International HapMap Project Identifies Genetic Variants

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The HapMap Project is an international project started in October 2002, combining the efforts of Nigeria, the United States, China, Canada, the United Kingdom, and Japan. The goal of the project is to create a catalogue of the most common genetic variants that occur in different populations. This catalogue will describe what the variants are, where in the DNA they occur, and how the variant is distributed across different populations.

Benefits of the Project

As the catalogue is completed, it is made available to researchers who are studying genetic links to illnesses. Once researchers know how genetic variants affect disease and treatment, they will be better able to prevent, diagnose, and treat those with illnesses. The catalogue will allow geneticist around the world to narrow down the genetic variants they need to test when looking for the gene involved in a specific diseases.

These studies contribute to the idea of having personalized pharmacological drugs. Knowing how an individual’s body will react to each compound, physicians and pharmacists can create drugs designed specifically for that person’s body.

HapMap Project Theory

The HapMap project relies on a theory known as the common disease-common variant hypothesis. The hypothesis is that diseases such as autoimmune diseases, schizophrenia, diabetes, and heart disease are influenced by genetic variants that are common in all populations. The hypothesis has been found to be true in studies of Alzheimer’s disease and Crohn’s disease.

Sample Population

The International HapMap Project is analyzing DNA from populations with African, Asian, and European ancestry. The decision to study these populations is based on knowledge of the history of the human population. All the common haplotypes in human chromosomes occur within these populations, though they may be more common in one than another.

A haplotype is a set of single nucleotide polymorphisms (SNPs). The International HapMap project is working to identify the majority of the over 10 million SNPs that frequently occur in the human genome.

So far, a total of 270 people have provided DNA samples to the HapMap project. 90 of these are from Nigeria, 45 from Japan, 45 from China, and 90 from US residents with European ancestry. Several additional population are being considered for future studies.

Ethical and Cultural Considerations

For ethical and privacy reasons, all DNA samples are only identified by the sex and population of the individual. Samples are not linked to the contributor in any way. In addition, more samples were collected than are being used in the study. This means that even the individuals who contributed do not know if their DNA was included in the study. Researchers worked to involve communities in the process from the beginning, in order to address any cultural issues that might come out of the study.


Web source: International HapMapProject. “About the Project”. Available:

Print source:The International HapMap Consortium. “The International HapMap Project”. Nature 426, 789-796. 2003.