Related Experiment Video
Updated: Aug 9, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
Published on: April 19, 2013
Calpain 10 and genetics of type 2 diabetes
1University of Chicago, Department of Human Genetics, 507H CLSC, 920 E. 58th Street, Chicago, IL 60637, USA. ncox@genetics.uchicago.edu
Abstract:
Positional cloning studies conducted on a region of chromosome 2q providing evidence for linkage to type 2 diabetes implicated genetic variation at the calpain-10 gene (CAPN10) in susceptibility to type 2 diabetes. The variants identified in these studies are located in introns, rather than in coding sequence. It was proposed that the cumulative effects of a combination of variants, rather than variation at a single site, increase the risk of type 2 diabetes. Confirmation of the hypothesis that non-coding sequence variation in CAPN10 affects susceptibility to type 2 diabetes has implications for how we search for susceptibility variants and interpret results of positional cloning studies for complex disorders, and suggests a new pathway in glucose homeostasis. We review the results of follow-up studies on the CAPN10 finding, and consider the issues inherent in conclusively establishing that particular genetic variation affects a complex phenotype.
Related Concept Videos
Diabetes Mellitus: Type 2 and Gestational
Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Type I Diabetes I: Introduction
Type I Diabetes II: Pathophysiology
Type II Diabetes I: Introduction
Type II Diabetes II: Pathophysiology

