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Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population.

Endocr. J.2018 May 28;65(5):537-545. doi:10.1507/endocrj.EJ17-0496. Epub 2018 Feb 27
Yao Xu 1 , Weilin Shi 1 , Ruhui Song 1 , Wenlin Long 1 , Hui Guo 1 , Shiliang Yuan 2 , Tongcun Zhang 1
Yao Xu 1 , Weilin Shi 1 , Ruhui Song 1 , Wenlin Long 1 , Hui Guo 1 , Shiliang Yuan 2 , Tongcun Zhang 1
+ et al

[No authors listed]

Author information
  • 1 Institute of Biology and Medicine, College of Life Science and Health, Wuhan University of Science and Technology, Wuhan, Hubei 430081, China.
  • 2 Tianyou Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, Hubei 430064, China.

摘要


Copy number variation (CNV) has emerged as another important genetic marker in addition to SNP for understanding etiology of complex disease. Kv channel interacting protein 1 (KCNIP1) is a Ca2+-dependent transcriptional modulator that contributes to the regulation of insulin secretion. Previous genome-wide CNV assay identified the KCNIP1 gene encompassing a CNV region, however, its further effect and risk rate on type 2 diabetes (T2D) have rarely been addressed, especially in Chinese population. The current study aims to detect and excavate genetic distribution profile of KCNIP1 CNV in Chinese T2D and control populations, and further to investigate the associations with clinical characteristics. Divergent patterns of the KCNIP1 CNV were identified (p < 0.01), in which the copy number gain was predominant in T2D, while the copy number normal accounted for the most in control group. Consistently, the individuals with copy number gain showed significant risk on T2D (OR = 4.550, p < 0.01). The KCNIP1 copy numbers presented significantly positive correlations with fasting plasma glucose and glycated hemoglobin in T2D. For OGTT test, the T2D patients with copy number gain had remarkably elevated glucose contents (60, 120, 180-min, p < 0.05 or p < 0.01) and diminished insulin levels (60, 120-min, p < 0.05) than those with copy number loss and normal, which suggested that the KCNIP1 CNV was correlated with the glucose and insulin action. This is the first CNV association study of the KCNIP1 gene in Chinese population, and these data indicated that KCNIP1 might function as a T2D-susceptibility gene whose dysregulation alters insulin production.

KEYWORDS: Association, Copy number variation, KCNIP1 gene, Type 2 diabetes