DNA Bank, Lifestyle and Morbidity Database on
500,000 Members of the UK Public Aged 45-69
Darren Shickle, Rhydian Hapgood, Jane Carlisle, Phil Shackley, Ann Morgan, Chris McCabe
School of Health and Related Research University of Sheffield
The Human Genome Project provided a comprehensive map of the human genome, location of genes and their DNA sequence. However, the more interesting and important work is on-going, i.e. knowing what these genes do, and how they interact with other genes and environmental factors in the aetiology of disease.
The main approach to identifying potential genes involved in disease is to use retrospective case control studies. DNA from individual patients with specific diseases is compared with DNA obtained from control individuals unaffected by that disease. Researchers attempt to find genes that are more common among the disease group than the controls, and hence that may be implicated in the disease making process. Many of the genes that are necessary and sufficient in the causation of disease have already been identified. However, there are very few diseases (usually where there is Mendelian inheritance) that are that simple. In most cases there will be numerous genetic and environmental contributory factors. Even when a gene is found that is very common in the case group and rare in the control group (i.e. a large odds ratio), if the gene is rare, then the population attributable risk and hence whether its discovery has any public health implications may be
Bartha Maria Knoppers (ed.), Populations and Genetics: Legal and Socio-Ethical Perspectives. © 2003 Koninklijke Brill NV. Printed in the Netherlands.