Table 3.
CNV regions associated with T2D and rare CNVs diabetes candidate genes.
| Genic region | Location | Coordinates 1 | Size (Mb) | DGV frequency (%) 2 | CNV type | T2D group (n = 686) | Control group (n = 194) |
|---|---|---|---|---|---|---|---|
| CNV regions associated with T2D | |||||||
| ZNF718 | 4p16.3 | chr4:43,276-146,490 | 103.2 | 0.0252 | Deletions | 0 (0) | 1 (0.52) |
| Duplications | 0 (0) | 1 (0.52) | |||||
| Deletions + Duplications* | 0 (0) | 2 (1.03) | |||||
| Rare CNVs in diabetes candidate genes | |||||||
| AMY2B | 1p21.1 | chr1:103,898,844-103,923,672 | 24.8 | 0.0486 | Duplication | 1 (0.15) | 0 (0) |
| LPP | 3q28 | chr3:189,413,414-190,080,135 | 666.7 | 0.0026 | Duplication | 1 (0.15) | 0 (0) |
| ARL15 | 5p15.2 | chr5:53,216,370-53,642,160 | 425.8 | 0.0430 | Duplication | 0 (0) | 1 (0.52) |
| HFE | 6p22.1 | chr6:26,195,487-26,203,448 | 8.0 | 0.0087 | Deletion | 1 (0.15) | 0 (0) |
| CDKAL1 | 6p22.3 | chr6:20,642,666-21,339,743 | 697.1 | 0.0000 | Deletion | 1 (0.15) | 0 (0) |
| RASGRP1 | 15q14 | chr15:36,567,593-36,644,299 | 76.7 | 0.0339 | Duplication | 1 (0.15) | 0 (0) |
1Coordinates according NCBI v36, hg18.
2Frequency according to the Database of Genomic Variants (DGV).
T2D: type 2 diabetes; CNVs: Copy number variations; kb kilobases; NA: Not available.
P-values were estimated by exact Fisher test. Corrected P-values by sex, body mass index, triglycerides and ancestry (MDS1) were not available. *P < 0.05.