Linkage of Calpain 10 to Type 2 Diabetes
The Biological Rationale
- 1Department of Human Genetics, the University of Chicago, Chicago, Illinois
- 2Department of Medicine, the University of Chicago, Chicago, Illinois
- 3Department of Biochemistry and Molecular Biology, the University of Chicago, Chicago, Illinois
- Address correspondence and reprint requests to Nancy J. Cox, Department of Human Genetics, 507H CLSC, 920 E. 58th St., Chicago, IL 60637. E-mail: ncox{at}genetics.bsd.uchicago.edu
Abstract
The follow-up studies to the original report of association of variation at calpain 10 (CAPN10) with type 2 diabetes in the Mexican-American population of Starr County, Texas, encompass a broad range of science. There are association studies on genetic variation at CAPN10 in different human populations over a range of phenotypes related to type 2 diabetes, physiological studies on the biological functions of calpain proteases, and evolutionary studies on CAPN10 and the NIDDM1 region. We review here the studies published to date on CAPN10, as well as the latest findings from positional cloning studies on a number of other complex disorders. Collectively, these studies provide perspective on the challenges of moving from the linkage mapping and positional cloning studies on which we have been focused to an understanding of the biology shaping the relationship of genotype to phenotype at loci influencing susceptibility to complex disorders like type 2 diabetes.
- CEPH, Centre Étude Polymorphism Humain
- FUSION, Finland-U.S. Investigation of NIDDM
- PCOS, polycystic ovary syndrome
Footnotes
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This article is based on a presentation at a symposium. The symposium and the publication of this article were made possible by an unrestricted educational grant from Les Laboratoires Servier.
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- Accepted May 30, 2003.
- Received May 28, 2003.
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