期刊
GENOMICS
卷 104, 期 2, 页码 113-120出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2014.05.004
关键词
Copy number variation (CNV); Association study; Type 2 diabetes; KCNIP1; Insulin secretion
资金
- Korea National Institute of Health [2010-N73004-00, 2013-NG73001-00]
- Korean Genome Analysis Project [4845-301]
- Korea Biobank Project [4851-307]
- Korea Health Promotion Institute [2013-NG73001-00, 2010-N73004-00] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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. (C) 2014 Elsevier Inc. All rights reserved.
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