Recent progress in the genetics of diabetic microvascular complications

Table 2 Genome-wide association studies for diabetic nephropathy, retinopathy, and neuropathy

Patients	Ethnic	Case	Control	Gene	Ref.	Replication studies	Non-replication studies
Diabetic nephropathy
T2DM	Japanese	459 DN	242	ELMO11	[25]	26, 27, 28, 29, 30	31, 32
T2DM	European	105 ESRD	102	PVT1	[33]
T2DM	African American	965 ESRD	1029	SASH1, RPS12,AUH, MSRB3, LIMK2-SKI1, APOL3-MYH91	[34]	35
T1DM	Caucasian (GoKinD, DCCT/EDIC)	820 ESRD	885	FRMD31, CARS, CPVL/CHN2, 13q3 between MYO16/IRS21	[39]	40, 41, 42	42, 30
T1DM	Caucasian	547 ESRD	549	ZMIZ1	[29]
T1DM	GENIE (UK-ROI, FinnDiane, GoKinUS) + 9 follow-up studies	Stage 1: 4315 ESRDStage 2: 1880 ESRD	Stage 1: 8568Stage 2: 6656	AFF3, RGMA/MCTP2, ERBB4	[43]
T1DM	Caucasian(FinnDiane + 7 follow-up studies)	5675 T1DMUrine albumin excretion rate		PSD3, SH2D4A	[44]
Diabetic retinopathy
T1DM	Caucasian (GoKinD and EDIC)	2829 PDR and macular edema	1856	AKT3/ZNF238, LEKR1/CCNL1, KRT18P34/VEPH1, A2BP1	[47]
T2DM	Taiwanese	174 NPDR and PDR	575	MYSM1, FSTL5, C5orfF21, PLXD2, ARHGAP22, HS6ST3	[48]
T2DM	Taiwanese	437 PDR	570	TBC1D4-COMMD6-UCHL3, LRP2-BBS5, and ARL4C-SH3BP4	[49]
T2DM	Mexican-American	103 severe DR	183	CAMK4, FMN1 genes	[50]
Diabetic neuropathy
United Kingdom	United Kingdom (GoDART)	572 diabetic neuropathic pain	2491	GFRA2	[51]

¹Loci that could be replicated in independent studies. T1DM: Type 1 diabetes mellitus; T2DM: Type 2 diabetes mellitus; DN: Diabetic nephropathy; ESRD: End-stage renal disease; GFR: Glomerular filtration rate; DR: Diabetic retinopathy; NPDR: Non-proliferative diabetic retinopathy; PDR: Proliferative diabetic retinopathy.