Manasa Prabhanjan and Suresh, Raviraj V. and Megha, N. Murthy and Ramachandra, N. B. (2016) Type 2 diabetes mellitus disease risk genes identified by genome wide copy number variation scan in normal populations. Diabetes Research and Clinical Practice, 113. 160 - 170. ISSN 1872-8227
Full text not available from this repository.Abstract
Aims To identify the role of copy number variations (CNVs) on disease risk genes and its effect on disease phenotypes in type 2 diabetes mellitus (T2DM) in 12 random populations using high throughput arrays. Methods CNV analysis was carried out on a total of 1715 individuals from 12 populations, from ArrayExpress Archive of the European Bioinformatics Institute along with our subjects using Affymetrix Genome Wide SNP 6.0 array. CNV effect on T2DM genes were analyzed using several bioinformatics tools and a molecular protein interaction network was constructed to identify the disease mechanism altered by the CNVs. Results Analysis showed 34.4 of the total population to be under CNV burden for T2DM, with 83 disease causal and associated genes being under CNV influence. Hotspots were identified on chromosomes 22, 12, 6, 19 and 11.Overlap studies with case cohorts revealed significant disease risk genes such as EGFR, E2F1, PPP1R3A, HLA and TSPAN8. Conclusions CNVs play a significant role in predisposing T2DM in normal cohorts and contribute to the phenotypic effects. Thus, CNVs should be considered as one of the major contributors in predisposition of the disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Type 2 diabetes mellitus, Copy number variations, Enrichment, Molecular interaction and network |
| Subjects: | B Life Science > Genetics and Genomics |
| Divisions: | Department of > Genetics and Genomics |
| Depositing User: | Manjula P Library Assistant |
| Date Deposited: | 28 Jun 2019 07:40 |
| Last Modified: | 03 Oct 2019 10:22 |
| URI: | http://eprints.uni-mysore.ac.in/id/eprint/4049 |
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