Table 2. MODY studies in Korean subjects.
Gene | Subjects | Finding | Reference |
---|---|---|---|
HNF1A | 69 early onset T2DM | One silent mutation | [58] |
HNF1A | 16 early onset T2DM | One missense (R236L) mutation | [20] |
HNF1A | 22 early onset T2DM | One mutation (promoter) | [59] |
HNF4A, GCK, HNF1A | 23 MODY and 17 early onset T2DM | One HNF1A (P393fsdelC, promoter) | [5] |
One GCK (R191W) | |||
One HNF4A (T130I polymorphism) | |||
HNF1A | 25 early-onset T2DM | Four promoter polymorphism | [60] |
HNF1A | 96 GDM | Five mutations ( 2 promoter, Arg278Gln, Pro300pro, IVS5 + 106A>G) | [62] |
HNF1B | 1 MODY | One missense (P159L) mutation | [38] |
PTPRD, SYT9, WFS1 | 6 MODY | Thr207Ile in PTPRD, Gln187Glu in SYT9, Val509Gly in WFS1 by whole-exome sequencing | [57] |
MODY, maturity-onset diabetes of the young; HNF1A, hepatocyte nuclear factor 1 α; T2DM, type 2 diabetes mellitus; GCK, glucokinase; GDM, gestational diabetes mellitus; PTPRD, protein tyrosine phosphatase, receptor type, D; SYT9, synaptotagmin-9; WFS1, Wolfram syndrome 1.