Related Experiment Video
Updated: Jan 26, 2026

Overexpressing Long Noncoding RNAs Using Gene-activating CRISPR
Published on: March 1, 2019
Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large
David A Good1, David L Duffy2, Manuela Good1
1Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia.
Abstract:
Type 2 diabetes (T2D) is a chronic disease that disproportionately affects Indigenous Australians. We have previously reported the localization of a novel T2D locus by linkage analysis to chromosome 2q24 in a large admixed Indigenous Australian pedigree (Busfield et al. (2002). American Journal of Human Genetics, 70, 349-357). Here we describe fine mapping of this region in this pedigree, with the identification of SNPs showing strong association with T2D: rs3845724 (diabetes p = 7 × 10-4), rs4668106 (diabetes p = 9 × 10-4) and rs529002 (plasma glucose p = 3 × 10-4). These associations were successfully replicated in an independent collection of Indigenous Australian T2D cases and controls. These SNPs all lie within the gene encoding ceramide synthase 6 (CERS6) and thus may regulate ceramide synthesis.
Related Concept Videos
Pedigree Analysis
Diabetes Mellitus: Type 2 and Gestational
Diabetes Mellitus: Overview and Type I Subtype
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
What is Variation?
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
Variation
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...

