What is a complex disease?
- Many of the most common diseases run in families and are caused by a combination of genetic, environmental and lifestyle factors.
- These diseases are called complex diseases.
- Although complex diseases tend to run in families, unlike single gene disorders, they do not have clear-cut patterns of inheritance so it is difficult to predict a person’s risk of inheriting or passing on these diseases.
- Because they can be caused by both genetic and environmental factors, complex diseases can be difficult to treat.
- Complex diseases include asthma, diabetes, epilepsy, hypertension, manic depression and schizophrenia.
- Some developmental abnormalities are also included, such as cleft lip and congenital heart defects.
- It is thought that the incidence of any complex disease is dependent on a balance of risks, too many negative genetic and environmental factors and the balance can be tipped towards disease.
Single nucleotide polymorphisms
- Single nucleotide polymorphisms, or SNPs, are single letter changes in the DNA code.
- SNPs are the most common type of genetic variation.
- SNPs occur throughout the genome, on average there is an SNP every 300 bases.
- Many genetic changes associated with complex diseases have been identified by looking to see if there are SNPs that occur more or less commonly in people with a disease, than people without the disease. This type of study is called a genome-wide association study or GWAS.
- Identifying SNPs associated with particular diseases will enable scientists to predict an individual’s likelihood of developing a disease and how the disease runs in families.
- These ‘risk SNPs’ can also help scientists to identify biological pathways underlying these diseases which can help with the development of treatments.
This page was last updated on 2021-07-21
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