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Basics of genetics 

Basics of genetics
Basics of genetics
Oxford Textbook of Rheumatology (4 ed.)

Anne Barton


Genetic factors are important in predisposing to nearly all of the conditions managed by rheumatologists; indeed, musculoskeletal diseases, like other complex diseases, are thought to be caused by environmental triggers in genetically susceptible individuals. Studying genetic susceptibility factors is more straightforward than environmental factors because, first, genetic changes are stable and do not vary throughout life; second, genetic changes exist before disease onset and so could be causative rather than occurring as a result of disease; and, third, genetic variation is easy to measure reliably using modern technologies. By comparison, environmental exposures can occur many years before disease onset, may vary during life, and are hard to accurately capture and measure. Enormous progress has been made in recent years in identifying susceptibility genes. This knowledge may allow better targeting of available therapies, the development of novel therapies, and an improved understanding of what determines disease severity in individual patients. In this chapter, the basic concepts in genetics are explained.

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