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, 115 (6), 1404-7

Mapping the New Frontier: Complex Genetic Disorders


Mapping the New Frontier: Complex Genetic Disorders

Richard Mayeux. J Clin Invest.


The remarkable achievements in human genetics over the years have been due to technological advances in gene mapping and in statistical methods that relate genetic variants to disease. Nearly every Mendelian genetic disorder has now been mapped to a specific gene or set of genes, but these discoveries have been limited to high-risk, variant alleles that segregate in rare families. With a working draft of the human genome now in hand, the availability of high-throughput genotyping, a plethora of genetic markers, and the development of new analytical methods, scientists are now turning their attention to common complex disorders such as diabetes, obesity, hypertension, and Alzheimer disease. In this issue, the JCI provides readers with a series dedicated to complex genetic disorders, offering a view of genetic medicine in the 21st century.


Figure 1
Figure 1
Progression of gene mapping in genetic epidemiological studies. (i) Population from which the complex genetic disorder arose. (ii) One of several families included in the genome-wide scan. However, more recently, genome-wide association studies of unrelated patients and controls have been advocated. (iii) Genome-wide scan using microsatellite DNA markers or SNPs. (iv) Fine mapping using a dense collection of SNPs in a region that segregates with disease. (v) Variant allele detection using sequencing. (vi) Functional assessment of the protein product. (vii) Determination of population attributable risk.

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