Frequent Loss of Genome Gap Region in 4p16.3 Subtelomere in Early-Onset Type 2 Diabetes Mellitus
2011

Loss of Genetic Material in Early-Onset Type 2 Diabetes

Sample size: 200 publication 10 minutes Evidence: moderate

Author Information

Author(s): Kudo Hirohito, Mitsuru Emi, Ishigaki Yasushi, Tsunoda Uiko, Hinokio Yoshinori, Ishii Miho, Sato Hidenori, Yamada Tetsuya, Katagiri Hideki, Oka Yoshitomo

Primary Institution: Tohoku University Graduate School of Medicine

Hypothesis

Is there a genetic basis for sporadic early-onset Type 2 diabetes mellitus?

Conclusion

The study found significant copy number losses in a specific genomic region associated with early-onset Type 2 diabetes.

Supporting Evidence

  • 13 out of 100 early-onset T2DM patients showed copy number losses in the 4p16.3 region compared to 1 out of 100 controls.
  • The CNV analysis was performed using a high-density custom-made oligonucleotide tiling microarray.
  • Copy number losses were verified in all 13 early-onset T2DM patients analyzed.

Takeaway

Researchers looked at the DNA of young people with diabetes and found missing pieces in their genes that might be linked to their condition.

Methodology

The study used whole-genome screening with a CNV BeadChip and confirmed findings with a high-density custom-made oligonucleotide microarray.

Limitations

The study had a small sample size for some analyses, which may limit the generalizability of the findings.

Participant Demographics

100 early-onset Japanese T2DM patients and 100 nondiabetic controls, aged 60 or older.

Statistical Information

P-Value

6.75 × 10−3

Confidence Interval

3.02–72.3

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1155/2011/498460

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