Journal of Clinical Investigation · 2000 · 292 citations · 12 references
MedicineGeneticsMolecular GeneticsDiabetologyHuman GeneticsMedical GeneticsDiabetes MellitusGenotype-phenotype Association AnalysisGenotype-phenotype CorrelationInsulin ResistanceInsulin Signaling In MetabolismCalpain SystemDiabetes-related Genetic RiskGlucose-stimulated Insulin SecretionImpaired Glucose ToleranceOxidationSkeletal Muscle Insulin ResistanceSkeletal Muscle PhysiologyType 2 Diabetes Susceptibility
Previous linkage studies in Mexican-Americans localized a major susceptibility locus for type 2 diabetes, NIDDM1, to chromosome 2q. This evidence for linkage to type 2 diabetes was recently found to be associated with a common G-->A polymorphism (UCSNP-43) within the CAPN10 gene. The at-risk genotype was homozygous for the UCSNP-43 G allele. In the present study among Pima Indians, the UCSNP-43 G/G genotype was not associated with an increased prevalence of type 2 diabetes. However, Pima Indians with normal glucose tolerance, who have a G/G genotype at UCSNP-43, were found to have decreased rates of postabsorptive and insulin-stimulated glucose turnover that appear to result from decreased rates of glucose oxidation. In addition, G/G homozygotes were found to have reduced CAPN10 mRNA expression in their skeletal muscle. A decreased rate of insulin-mediated glucose turnover, or insulin resistance, is one mechanism by which the polymorphism in CAPN10 may increase susceptibility to type 2 diabetes mellitus in older persons.
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Stephen Lillioja, David M. Mott, Maximilian Spraul et al. · New England Journal of Medicine · 1993 · 1.5K citations · Full text
Medicine, Endocrinology, Diabetology +14
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Yukio Horikawa, Naohisa Oda, Nancy J. Cox et al. · Nature Genetics · 2000 · 1.5K citations