Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion.

Authors:
Heun-Sik Lee
Heun-Sik Lee
Korea Research Institute of Bioscience and Biotechnology
South Korea
Sanghoon Moon
Sanghoon Moon
Center for Genome Science
Vancouver | Canada
Jun Ho Yun
Jun Ho Yun
Center for Genome Science
Meehee Lee
Meehee Lee
Mie University
Japan
Mi Yeong Hwang
Mi Yeong Hwang
National Institute of Health
Young-Jin Kim
Young-Jin Kim
Yonsei University College of Medicine
South Korea
Bok-Ghee Han
Bok-Ghee Han
South Korea
Jeong-Min Kim
Jeong-Min Kim
Seoul National University Hospital
South Korea

Genomics 2014 Aug 2;104(2):113-20. Epub 2014 Jun 2.

Center for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea. Electronic address:

Copy number variations (CNVs) have emerged as another important genetic marker in addition to SNP for understanding etiology of complex diseases. In light of this, we performed a genome-wide CNV study to identify type 2 diabetes (T2D)-associated CNV using an array comparative genomic hybridization from 3180 subjects for T2D cases (n=863) and controls (n=2,317). Thus, five CNV regions having a p-value threshold ≤0.05 were identified and evaluated by validation with quantitative PCR and comparison with previously reported CNV regions in the Database of Genomic Variants. Furthermore, we performed a functional experiment to assess the biological significance of a gene encompassing a CNV region. The inhibition of KCNIP1 led to increased insulin secretion in a glucose-dependent manner, but had no effect on insulin gene transcription as well as cell apoptosis. Taken together, these data indicate that KCNIP1 from CNV study might function as a T2D-susceptibility gene whose dysregulation alters insulin production.

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http://dx.doi.org/10.1016/j.ygeno.2014.05.004DOI Listing

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August 2014
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