Predicting disease using genomics

Nature

Volumn 429, Issue 6990, 2004, Pages 453-456

  Bell, John ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE CONTROL; DRUG PRODUCTS; DRUG THERAPY; GENES; GENETIC ENGINEERING;

DISEASE PREVENTION; GENOME SEQUENCES;

BIOMEDICAL ENGINEERING;

GENOME; MEDICINE;

CLINICAL PRACTICE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DISEASE COURSE; GENE SEQUENCE; GENOME; GENOMICS; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SYSTEMATIC REVIEW;

DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENOMICS; HUMANS; PHARMACOGENETICS; PROGNOSIS;

EID: 2642581701     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02624     Document Type: Review

References (46)

1. Mira, M. T. et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 427, 636-640 (2004).
2. Allen, M. et al. Positional cloning of a novel gene influencing asthma from chromosome 2q14. Nature Genet. 35, 258-263 (2003).
3. van de Vijver, M. J. et al. Gene-expression signature as a predictor of survival in breast cancer. N. Engl. J. Med. 347, 1999-2009 (2002).
4. Weigelt, B. et al. Gene expression profiles of primary breast tumours maintained in distant metastases. Proc. Natl Acad. Sci. USA 100, 15901-15905 (2003).
5. Wong, Y. F. et al. Expression genomics of cervical cancer: Molecular classification and prediction of radiotherapy response by DNA microarray. Clin. Cancer Res. 9, 5486-5492 (2003).
6. Ross, M. E. et al. Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood 102, 2951-2959 (2003).
7. Petricoin III, E. F. et al. Use of proteomic patterns in serum to identify ovarian cancer. Lancet 359, 572-577 (2002).
8. Bell, G. I. & Polonsky, K. S. Diabetes mellitus and genetically programmed defects in β-cell function. Nature 414, 788-791 (2001).
9. Gloyn, A. L. et al. Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 52, 568-572 (2003).
10. 1H-NMR-based metabonomics. Nature Med. 8, 1439-1444 (2002).
11. Paul, S. M. & Jorden, V. S. HIV resistance testing. A clinical tool. N. J. Med. 100, 44-49 (2003).
12. Poynard, T., Yeun, M. F., Ratziu, V. & Lai, C. L. Viral hepatitis C. Lancet 362, 2095-2100 (2003).
13. Young, J. et al. Stable partnership and progression to AIDS or death in HIV infected patients receiving highly active antiretroviral therapy: Swiss HIV cohort study. Br. Med. J. 328, 15 (2004).
14. The U.S.-Venezuela Collaborative Research Project. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Natl Acad. Sci. USA 101, 3498-3503 (2004).
15. Heart Protection Study Collaborative Group. MRC/BHF Heart Protection Study of cholesterol-lowering with simvastatin in 5963 people with diabetes: a randomised placebo-controlled trial. Lancet 361, 2005-2016 (2003).
16. Ponz de Leon, M. et al. Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br. J. Cancer. 90, 882-887 (2004).
17. Weatherall, D. J. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Rev. Genet. 2, 245-255 (2001).
18. Ford, D. et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet. 62, 676-689 (1998).
19. Grody, W. W. Molecular genetic risk screening. Annu. Rev. Med. 54, 473-490 (2003).
20. Keating, M. T. & Sanguinetti, M. C. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104, 569-580 (2001).
21. Watkins, H. Sudden death in hypertrophic cardiomyopathy. N. Engl. J. Med. 342, 422-444 (2000).
22. Mohler, P. J. et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421, 634-639 (2003).
23. Hartge, P. Genes, hormones, and pathways to breast cancer. N. Engl. J. Med. 348, 2352-2354 (2003).
24. Kinzler, K.W. & Vogelstein, B. Lessons from hereditary colorectal cancer. Cell 87, 159-170 (1996).
25. Fajans, S. S., Bell, G. I. & Polonsky, K. S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med. 345, 971-980 (2001).
26. Edlund, H. Transcribing diabetes. Diabetes 47, 1817-1823 (1998).
27. Weedon, M. N. et al. Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am. J. Hum. Genet. 73, 1208-1212 (2003).
28. Su, A. I. et al. Large-scale analysis of the human and mouse transcriptomes. Proc. Natl Acad. Sci. USA 99, 4465-4470 (2002).
29. Aebersold, R. & Mann, M. Mass spectrometry-based proteomics. Nature 422, 198-207 (2003).
30. Schadt, E. E. et al. Genetics of gene expression surveyed in maize, mouse and man. Nature 422, 297-302 (2003).
31. Weber, W. W. Pharmacogenetics (Oxford Univ. Press, New York, 1997).
32. Evans, D. A. P. et al. Genetic control of isoniazid metabolism in man. Br. Med. J. 2, 485-491 (1960).
33. Krynetski, E. Y et al. A single point mutation leads to loss of catalytic activity in human thiopurine S-methyltransferase. Proc. Natl Acad. Sci. USA 92, 949-953 (1995).
34. Harris, B. E., Carpenter, J. T. & Diasio, R. B. Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potential more common pharmacogenetic syndrome. Cancer 68, 499-501 (1991).
35. Chung, W. H. et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 428, 486 (2004).
36. Savage, D. G. & Antman, K. H. Imatinib mesylate-A new oral targeted therapy. N. Engl. J. Med. 346, 683-693 (2002).
37. Pearson, E. R. et al. Genetic cause of hyperglycaemia in response to treatment in diabetes. Lancet 362, 1275-1281 (2003).
38. Fornier, M., Risio, M., Van Poznak, C. & Siedman, A. HER2 testing and correlation with efficacy of trastuzumab therapy. Oncology 16, 1340-1348; 1351-1352; 1355-1358 (2002).
39. Esteller, M. et al. Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents. N. Engl. J. Med. 343, 1350-1354 (2000).
40. Bohen, S. P. et al. Variation in the gene expression patterns in follicular lymphoma and the response to rituximab. Proc. Natl Acad. Sci. USA 100, 1926-1930 (2003).
41. Kuivenhoven, J. A. et al. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. N. Engl. J. Med. 338, 86-93 (1998).
42. Drazen, J. M. et al. Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment. Nature Genet. 22, 168-170 (1999).
43. Johnstone, E. C. et al. Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch. Pharmacogenetics (in the press).
44. Seligsohn, U. & Lubetsky, A. Genetic susceptibility to venous thrombosis. N. Engl. J. Med. 344, 1222-1231 (2001).
45. Mallan, S. et al. Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet 359, 727-732 (2002).
46. Seidman, J. G. & Seidman, C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104, 557-567 (2001).