FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 360:1759-1768 April 23, 2009 Number 17 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text PowerPoint Slide Set Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

For 20 years, genetic linkage combined with positional cloning has offered a rational and increasingly straightforward route to finding gene mutations that lead to monogenic disease, such as cystic fibrosis and Huntington's disease (see the Glossary). With a few important exceptions, these searches have led to mutations that alter the amino acid sequence of a protein and that enormously increase the risk of disease.

During the past few years, genomewide association studies have identified a large number of robust associations between specific chromosomal loci and complex human disease, such as type 2 diabetes and rheumatoid arthritis¹ (Figure 1). . . . [Full Text of this Article]

The Genetics of Gene Expression

Rare High-Risk Coding Variants

The Power of the Pathway

Moving from Dichotomous to Graded Genetic Risk

Centralized Resources

Environmental Effect

Source Information

From the Institute of Neurology, University College London, London (J.H.); and the Laboratory of Neurogenetics, Bethesda, MD (A.S.).

This article (10.1056/NEJMra0808700) was published at NEJM.org on April 15, 2009.

Address reprint requests to Dr. Hardy at the Institute of Neurology, University College London, Queen Sq., London WC1N 3BG, United Kingdom, or at jhardy@ion.ucl.ac.uk.

This article has been cited by other articles:

• Hegele, R. A., Ban, M. R., Hsueh, N., Kennedy, B. A., Cao, H., Zou, G. Y., Anand, S., Yusuf, S., Huff, M. W., Wang, J. (2009). A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hum Mol Genet 18: 4189-4194 [Abstract] [Full Text]  
• Gu, D., Wang, M., Wang, M., Zhang, Z., Chen, J. (2009). The DNA repair gene APE1 T1349G polymorphism and cancer risk: a meta-analysis of 27 case-control studies. Mutagenesis 24: 507-512 [Abstract] [Full Text]  
• Montgomery, S. B., Dermitzakis, E. T. (2009). The resolution of the genetics of gene expression. Hum Mol Genet 18: R211-R215 [Abstract] [Full Text]  
• Thein, S. L., Menzel, S., Lathrop, M., Garner, C. (2009). Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet 18: R216-R223 [Abstract] [Full Text]  
• Federoff, H. J., Gostin, L. O. (2009). Evolving From Reductionism to Holism: Is There a Future for Systems Medicine?. JAMA 302: 994-996 [Full Text]  
• Jain, L., Vargo, C. A., Danesi, R., Sissung, T. M., Price, D. K., Venzon, D., Venitz, J., Figg, W. D. (2009). The role of vascular endothelial growth factor SNPs as predictive and prognostic markers for major solid tumors. Molecular Cancer Therapeutics 8: 2496-2508 [Abstract] [Full Text]  
• Sarwar, R., Cook, S. A. (2009). Genomic Analysis of Left Ventricular Remodeling. Circulation 120: 437-444 [Full Text]  
• (2009). Genome-Wide Association Studies: Can They Predict Human Disease?. JWatch Pediatrics 2009: 4-4 [Full Text]  
• Ryten, M., Trabzuni, D., Hardy, J. (2009). Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. Brief Funct Genomic Proteomic 8: 194-198 [Abstract] [Full Text]  
• (2009). Emerging Perspectives: Update on Genome-Wide Association Studies. JWatch Psychiatry 2009: 4-4 [Full Text]