Table 2.
Studies for monogenic diabetes in Korean subjects
| Gene | Methods | Subjects | Finding | Year | Reference |
|---|---|---|---|---|---|
| HNF1A | SSCP technique | 69 Early onset T2DM | 1/69 (1.5%) Synonymous mutation | 2001 | [18] |
| HNF1A | Sanger sequencing | 16 Early onset T2DM | 1/16 (6.25%) Nonsynonymous mutation (R263L) | 2003 | [19] |
| HNF1A | DNA chip | 22 Early onset T2DM | 1/22 (4.5%) Promoter polymorphism, non-segregating | 2004 | [20] |
| HNF4A, GCK, HNF1A | Sanger sequencing | 23 MODY, 17 early onset T2DM | 2/40 (5%) HNF1A (P393fsdelC, promoter) | 2006 | [21] |
| 1/40 (2.5%) GCK (R191W) | |||||
| 1/40 (2.5%) HNF4A (T130I, polymorphism) | |||||
| HNF1A | DNA chip | 25 Early onset T2DM | 1/25 (4%) Promoter polymorphism | 2008 | [22] |
| HNF1A | Sanger sequencing | 96 GDM | 5/96 (5.2%) 2 Promoter, Arg278Gln, Pro300pro, IVS5 +106A>G | 2008 | [23] |
| HNF1B | Sanger sequencing | 1 MODY | P159L mutation | 2014 | [24] |
| PTPRD, SYT9, WFS1 | WES | 6 MODY | 3 Variants (Thr207Ile in PTPRD, Gln187Glu in SYT9, Val509Gly in WFS1) | 2015 | [25] |
| HNF4A, ABCC8, HNF1A | WES | 28 Early onset T2DM | 4 Pathogenic/likely pathogenic variants (Leu319Pro in HNF4A, His103Tyr and Arg74Gln in ABCC8, Leu139Val in HNF1A) | 2016 | [26] |
| 6 Non-silent variants | |||||
| GCK | WES | 3 Suspected MODY | 2 Variants (Leu30Pro, Ser83Leu) | 2017 | [27] |
| GCK, HNF1A, HNF4A, HNF1B | Targeted panel sequencing | 109 Suspected monogenic diabetes | 14/109 (12.8%): MODY (7 GCK, 3 HNF1A, 3 HNF4A, 1 HNF1B) | 2019 | [14] |
| 5/109 (4.6%): mitochondrial MT-TL1 | |||||
| 4/109 (3.7%): WFS1, INS, ABCC8, FOXP3 |
SSCP, single-strand conformation polymorphsm; T2DM, type 2 diabetes mellitus; MODY, maturity-onset diabetes of young; GDM, gestational diabetes mellitus; WES, whole exome sequencing.