Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus (original) (raw)
The Expert Committee on the Diagnosis and Classification of Diabetes ellitus. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care20, 1183–1197 (1997).
King, H., Aubert, R.E. & Herman, W.H. Global burden of diabetes, 1995–2025. Diabetes Care21, 1414–1431 (1998). ArticleCASPubMed Google Scholar
Steiner, D.F., Tager, H.S., Nanjo, K., Chan, S.J. & Rubenstein, A.H. Familial syndromes of hyperproinsulinemia and hyperinsulinemia with mild diabetes. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 897–904 (McGraw-Hill, New York, 1995). Google Scholar
Taylor, S.I. Diabetes mellitus. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 843–896 (McGraw-Hill, New York, 1995). Google Scholar
Vionnet, N. et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature356, 721–722 (1992). ArticleCASPubMed Google Scholar
Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature384, 455–458 (1996). ArticleCASPubMed Google Scholar
Horikawa, Y. et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nature Genet.17, 384–385 (1997). ArticleCASPubMed Google Scholar
Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature384, 458–460 (1996). ArticleCASPubMed Google Scholar
Malecki, M.T. et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nature Genet.23, 323–328 (1999). ArticleCASPubMed Google Scholar
Maassen, J.A. & Kadowaki, T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia39, 375–382 (1996). ArticleCASPubMed Google Scholar
Concannon, P. et al. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nature Genet.19, 292–296 (1998). ArticleCASPubMed Google Scholar
Hanis, C.L. et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet.13, 161–166 (1996). ArticleCASPubMed Google Scholar
Duggirala, R. et al. Linkage of type 2 diabetes mellitus and age at onset to a location on chromosome 10q in Mexican Americans. Am. J. Hum. Genet.64, 1127–1140 (1999). ArticleCASPubMedPubMed Central Google Scholar
Mahtani, M.M. et al. Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nature Genet.14, 90–94 (1996). ArticleCASPubMed Google Scholar
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). ArticleCASPubMedPubMed Central Google Scholar
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. Diabetes48, 1175–1182 (1999). ArticleCASPubMed Google Scholar
Hani, E.H. et al. Mapping NIDDM susceptibility loci in French families: studies with markers in the region of NIDDM1 on chromosome 2q. Diabetes46, 1225–1226 (1997). ArticleCASPubMed Google Scholar
Thomas, A.W. et al. Genetic linkage study of a major susceptibility locus (D2S125) in a British population of non-insulin dependent diabetic sib-pairs using a simple non-isotopic screening method. Hum. Genet.101, 212–213 (1997). ArticleCASPubMed Google Scholar
Ciccarese, M. et al. Preliminary data on a genome search in NIDDM siblings: the NIDDM1 locus on chromosome 2 is not linked to NIDDM in the Sardinian population. Diabetologia40, 1366–1367 (1997). ArticleCASPubMed Google Scholar
Ghosh, S. et al. A large sample of Finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter. J. Clin. Invest.102, 704–709 (1998). ArticleCASPubMedPubMed Central Google Scholar
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). ArticleCASPubMed Google Scholar
Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. & Weber, J.L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet.63, 861–869 (1998). ArticleCASPubMedPubMed Central Google Scholar
Braun, C., Engel, M., Theisinger, B., Welter, C. & Seifert, M. CAPN 8: Isolation of a new mouse calpain-isoenzyme. Biochem. Biophys. Res. Commun.260, 671–675 (1999). ArticleCASPubMed Google Scholar
O'Dowd, B.F. et al. Discovery of three novel G-protein coupled receptor genes. Genomics47, 310–313 (1998). ArticleCASPubMed Google Scholar
Cadel, S. et al. Aminopeptidase B from the rat testis is a bifunctional enzyme structurally related to leukotriene-A4 hydrolase. Proc. Natl Acad. Sci. USA94, 2963–2968 (1997). ArticleCASPubMedPubMed Central Google Scholar
Khoury, M.J., Beaty, T.H. & Cohen, B.H. Fundamentals of Genetic Epidemiology (Oxford University Press, New York, 1993). Google Scholar
Saido, T., Sorimachi, H. & Suzuki, K. Calpain: new perspectives in molecular diversity and physiological-pathological involvement. FASEB J.8, 814–822 (1994). ArticleCASPubMed Google Scholar
Carafoli, E. & Molinari, M. Calpain: a protease in search of a function. Biochem. Biophys. Res. Commun.247, 193–203 (1998). ArticleCASPubMed Google Scholar
Dear, N., Matena, K., Vingron, M. & Boehm, T. A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. Genomics45, 175–184 (1997). ArticleCASPubMed Google Scholar
Smith, L.K., Rice, K.M. & Garner, C.W. The insulin-induced down-regulation of IRS-1 in 3T3-L1 adipocytes is mediated by a calcium-dependent thiol protease. Mol. Cell. Endocrinol.122, 81–92 (1996). ArticleCASPubMed Google Scholar
Richard, I. et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell81, 27–40 (1995). ArticleCASPubMed Google Scholar
Barnes, T.M. & Hodgkin, J. The tra-3 sex determination gene of Caenorhabditis elegans encodes a member of the calpain regulatory protease family. EMBO J.15, 4477–4484 (1996). ArticleCASPubMedPubMed Central Google Scholar
Delaney, S.J., Hayward, D.C., Barleben, F., Fischbach, K.-F. & Miklos, G.L.G. Molecular cloning and analysis of small optic lobes, a structural brain gene of Drosophila melanogaster. Proc. Natl Acad. Sci. USA88, 7214–7218 (1991). ArticleCASPubMedPubMed Central Google Scholar
Blackwood, E.M. & Kadonaga, J.T. Going the distance: a current view of enhancer action. Science281, 60–63 (1998). ArticleCASPubMed Google Scholar
Stam, L.F. & Laurie, C.C. Molecular dissection of a major gene effect on a quantitative trait: the level of alcohol dehydrogenase expression in Drosophila melanogaster. Genetics144, 1559–1564 (1996). CASPubMedPubMed Central Google Scholar
Uitterlinden, A.G. et al. Relation of alleles of the collagen type Iα1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N. Engl. J. Med.338, 1016–1021 (1998). ArticleCASPubMed Google Scholar
Baier, L.J. et al. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J. Clin. Invest.106, R69–R73 (2000). ArticleCASPubMedPubMed Central Google Scholar
Naggert, J.K. et al. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzymatic activity. Nature Genet.10, 135–141 (1995). ArticleCASPubMed Google Scholar
Jackson, R.S. et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nature Genet.16, 303–306 (1997). ArticleCASPubMed Google Scholar
Hanis, C.L., Hewett-Emmett, D., Bertin, T.K. & Schull, W.J. Origins of U.S. Hispanics: implications for diabetes. Diabetes Care41, 618–627 (1991). Article Google Scholar
Groop, L. et al. Metabolic consequences of a family history of NIDDM (the Botnia study): evidence for sex-specific parental effects. Diabetes45, 1585–1593 (1996). ArticleCASPubMed Google Scholar
MacLean, C.J. & Morton, N.E. Estimation of myriad haplotype frequencies. Genet. Epidemiol.2, 263–272 (1985). ArticleCASPubMed Google Scholar
Lewontin, R.C. The interaction of selection and linkage. I. General considerations: heterotic models. Genetics49, 49–67 (1964). CASPubMedPubMed Central Google Scholar
Andrews, N.C. & Faller, D.V. A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells. Nucleic Acids Res.11, 2499 (1991). Article Google Scholar