Advances in genetics as a result of the Human Genome Project and 100 years of prior human genetics have recently led to numerous studies associating genetic variation with common diseases such as coronary artery disease, type II diabetes, atrial fibrillation, autism and schizophrenia, amongst many others. Before 2005, the field was poorly represented by a small number of underpowered and unreplicated genetic association studies examining single genes, with only a few well-validated genetic risk factors for common disease. The fundamental advance in the field that enabled identification of important genetic associations with disease since 2005 was identification of most of the common variations in the human genome, and the technology to examine more than 500,000 of those variants in a single individual for a cost of less than US dollar600. In contrast to common acquired diseases that make up most of the health care burden in the Western world, there are numerous genetic diseases that are rare in the overall population, but are profoundly debilitating or lethal in a much smaller number of individuals. These are often obvious earlier in life, are strongly inherited, and are little modified by other nongenetic influences. Because they are rare and inherited, they are often studied in small family kindreds. These are often called Mendelian disease because of the nature of their inheritance, and the first recognized example, alcaptonuia, was discovered more than 100 years ago. Other examples are sickle cell disease, malignant hyperthermia, and the pseudocholinesterase deficiencies. This review outlines recent developments in human genetics that affect anesthesiologists in their clinical practice. The fundamental principles of genetic variation are discussed, and the technology used to identify genetic variation in studies of gene-disease associations is described with examples of its value, notably in common diseases such as coronary artery disease (CAD) and atrial fib...
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