Multifactorial disease
Multifactorial disease
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Multifactorial disease

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Multifactorial disease

Multifactorial diseases, also known as complex diseases, are not confined to any specific pattern of single gene inheritance and are likely to be caused when multiple genes come together along with the effects of environmental factors.

In fact, the terms 'multifactorial' and 'polygenic' are used as synonyms and these terms are commonly used to describe the architecture of disease causing genetic component. Multifactorial diseases are often found gathered in families yet, they do not show any distinct pattern of inheritance. It is difficult to study and treat multifactorial diseases because specific factors associated with these diseases have not yet been identified. Some common multifactorial disorders include schizophrenia, diabetes, asthma, depression, high blood pressure, Alzheimer's, obesity, epilepsy, heart diseases, Hypothyroidism, club foot, cancer, birth defects and even dandruff.

The multifactorial threshold model assumes that gene defects for multifactorial traits are usually distributed within populations.  Firstly, different populations might have different thresholds. This is the case in which occurrences of a particular disease is different in males and females (e.g. Pyloric stenosis). The distribution of susceptibility is the same but threshold is different. Secondly, threshold may be same but the distributions of susceptibility may be different. It explains the underlying risks present in first degree relatives of affected individuals.

Multifactorial disorders exhibit a combination of distinct characteristics which are clearly differentiated from Mendelian inheritance.

The risk for multifactorial disorders is mainly determined by universal risk factors. Risk factors are divided into three categories; genetic, environmental and complex factors (for example overweight).

Genetic risk factors are associated with the permanent changes in the base pair sequence of human genome. In the last decade, many studies have been generated data regarding genetic basis of multifactorial diseases. Various polymorphism have been shown to be associated with more than one disease, examples include polymorphisms in TNF-a, TGF-b and ACE genes, as well as mutations in BRCA1. BRCA2, BARD1, and BRIP1.

Environmental risk factors vary from events of life to medical interventions. The quick change in the patterns of morbidity, within one or two generations, clearly demonstrates the significance of environmental factors in the development and reduction of multifactorial disorders. Environmental risk factors include change in life style (diet, physical activity, stress management) and medical interventions (surgery, drugs).

Many risk factors originate from the interactions between genetic and environmental factors and referred as complex risk factors. Examples include epigenetic changes, body weight, pollution, and plasma cortisol level.

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