The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population
2011

Genetic Factors of Type 2 Diabetes in Koreans

Sample size: 771 publication Evidence: moderate

Author Information

Author(s): Bae Joon Seol, Cheong Hyun Sub, Kim Ji-Hong, Park Byung Lae, Kim Jeong-Hyun, Park Tae Joon, Kim Jason Yongha, Pasaje Charisse Flerida A., Lee Jin Sol, Park Yun-Ju, Park Miey, Park Chan, Koh InSong, Chung Yeun-Jun, Lee Jong-Young, Shin Hyoung Doo

Primary Institution: Sogang University, Seoul, Republic of Korea

Hypothesis

The study aims to identify type 2 diabetes-associated copy number variations (CNVs) in a Korean cohort.

Conclusion

The study found several CNVRs significantly associated with the risk of type 2 diabetes in a Korean population.

Supporting Evidence

  • Identified a total of 7,478 CNVs and 2,554 CNV regions in the study.
  • Three novel candidate T2DM loci were found to be significantly associated with the risk of T2DM.
  • The identified CNVs were validated using overlapping analysis with the Database of Genomic Variants.

Takeaway

Researchers looked at the DNA of people with and without diabetes to find differences that might explain why some people get the disease.

Methodology

Genome-wide genotyping was performed using the Illumina HumanHap300 BeadChip on 275 patients with type 2 diabetes and 496 nondiabetic subjects.

Limitations

The study may not capture all genetic variations due to sample size and ethnic differences.

Participant Demographics

Participants were 275 unrelated patients with type 2 diabetes and 496 unrelated nondiabetic control subjects, all of Korean ethnicity.

Statistical Information

P-Value

8.6E-04

Confidence Interval

1.5–4.5

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0019091

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