The sequencing of the human genome represents a major milestone that will have profound consequences for the practice of medicine. Many new disease genes will be identified, and this information may someday be used to predict a patient's risk of developing a specific disease or response to a particular drug. The following six News and Views articles discuss how The Human Genome Project will revolutionize the diagnosis and treatment of diseases including diabetes, asthma, cancer, autoimmunity and cardiac disease, as well as the potential for developing 'personalized therapies'. They also serve to remind us that although we have our 'genetic blueprint' in hand, a large amount of work remains before we fully understand how to best use it.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Kahn, C.R. Insulin action, diabetogenes, and the cause of type 2 diabetes. Diabetes 43, 1066–1084 (1994).
International Human Genome Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).
Vionnet, N. et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus Nature 356, 721–722 (1992).
Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young. Nature 384, 455–458 (1996).
Stoffers, D.A., Ferrer, J. & Habener, J.F. Early-onset-type-II diabetes mellitus (MODY4) linked to 1PF1. Nature Genet. 2, 138–139 (1997).
Malecki, M.T. et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nature Genet. 23, 323–328 (1999).
Krook, A. & O'Rahilly S. Mutant insulin receptors in syndromes of insulin resistance. Baillieres. Clin. Endo. Metab. 10, 97–122 (1996).
Schon, E.A. Mitochondrial genetics and disease. Trends Biochem. Sci. 55, 555–560 (2000).
Shackleton, S. et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet. 2, 153–156 (2000).
Strom, T.M. et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7, 2021–2028 (1998).
Hudson, T.J. et al. An STS-based map of the human genome. Science 270, 1945–1954 (1995).
Horikawa, Y. et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nature Genet. 26,163–175 (2000).
Cox, N.J. et al. Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nature Genet. 21, 213–215 (1999).
Ji, L. et al. New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46, 876–881 (1997).
Bowden, D.W. et al. Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 46, 882–886 (1997).
Zouali, H. et al. A susceptibility locus for early-onset-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum. Mol. Genet. 6, 1401–1408 (1997).
Hanson, R.L. et al. An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. Am. J. Hum. Genet. 63, 1130–1138 (1998).
Elbein, S.C., Hoffman, M.D., Teng, K., Leppert, M.F. & Hasstedt, S.J. A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians. Diabetes 48, 1175–1182 (1999).
Ghosh, S. et al. The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am. J. Hum. Genet. 5, 1174–1185 (2000).
Watanabe, R.M. et al. The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. Am. J. Hum. Genet. 5, 1186–1200 (2000).
Almind, K., Inoue, G., Pedersen, O. & Kahn, C.R. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J. Clin. Invest. 97, 2569–2575 (1996).
Yen, C.J. et al. Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR γ) gene in diabetic Caucasians: identification of a Pro12Ala PPAR γ 2 missense mutation. Biochem. Biophys. Res. Commun. 241, 270–274 (1997).
Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76–80 (2000).
Hani, E.H. et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J. Clin. Invest. 104, R41–48 (1999).
The international SNP map working group. A map of human genome sequence variation containing 1.4 million single nucleotide polymorphisms. Nature 409, 928–933 (2001).
Weiss, K.M. & Terwilliger, J.D. How many diseases does it take to map a gene with SNPs? Nature Genet. 26, 151–157, 2000
Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139–144 (1999).
Bock, J.B., Matern, H.T., Peden, A.A. & Scheller, R.H. A genomic perspective on membrane compartment organization. Nature 409, 839–841 (2001).
Mokdad, A.H. et al. Diabetes trends in the U.S.: 1990–1998. Diabetes Care 9,1278–1283 (2000) and Diabetes Care 10, 412 (2001).
Bruning, J.C. et al. Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles. Cell 88, 561–572 (1997)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Almind, K., Doria, A. & Kahn, C. Putting the genes for type II diabetes on the map. Nat Med 7, 277–279 (2001). https://doi.org/10.1038/85405
Issue Date:
DOI: https://doi.org/10.1038/85405
This article is cited by
-
Bariatric Surgery in the Treatment of Type 2 Diabetes
Current Diabetes Reports (2019)
-
Knowledge and awareness of oral health among diabetic patients—a cross-sectional study from Mangalore City
International Journal of Diabetes in Developing Countries (2015)
-
Interaction of DIO2 T92A and PPARγ2 P12A Polymorphisms in the Modulation of Metabolic Syndrome
Obesity (2007)
-
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population
Journal of Human Genetics (2006)
-
Mutation analysis of suppressor of cytokine signalling 3, a candidate gene in Type 1 diabetes and insulin sensitivity
Diabetologia (2004)