New Conceptual Framework for Copy Number Variation-associated Diabetes

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Genetic factors play very important roles in the onset and progression of type 2 diabetes mellitus (T2DM). We previously found that copy number losses in the subtelomeric region on chromosome 4p16.3 were detected in early-onset Japanese T2DM patients at a high frequency. Herein, we additionally found two novel copy number losses within the subtelomeric regions on chromosomes 16q24 and 22q13, which have significant associations with early-onset Japanese T2DM. Furthermore, copy number variation (CNV) analysis of the whole genome verified simultaneous copy number losses in all three subtelomeric regions in 11 of our 100 T2DM subjects, while none of 100 non-diabetic controls showed the copy number losses in all three regions. Thus, CNV within multiple subtelomeric regions are strongly associated with early-onset T2DM and examination of simultaneous CNVs in these three regions may lead to the development of an accurate and selective procedure for detecting genetic susceptibility to T2DM.