Table 1.
The susceptibility genes in diabetic nephropathy
| Gene | SNP | MAF | Study type | Phenotype | DM type | Race | Sample size | OR/HR | p value | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|
| Lipid metabolism-related genes | ||||||||||
| ACACB | rs2268388 | A = 0.1631/817 | meta | T2DN | T2D | Japanese | 1,312 | 1.61 (additive) | 1.4×10–6 | [8] |
| meta | T2D-ESRD | T2D | European | 908 | 1.61 (additive) | 0.0006 | [8] | |||
| ADIPOQ | rs2241766 | G = 0.1514/758 | CC | T2DN | T2D | Korean | 708 | 1.96 (GG) | 0.049 | [19] |
| cohort | T2DN, male | T2D | Taiwanese | 556 | 1.81 (recessive TT vs. GT+GG, HR) | 0.019 | [18] | |||
| rs1063537 | T = 0.1442/722 | cohort | T2DN, male | T2D | Taiwanese | 556 | 1.89 (recessive CC vs. CT+TT, HR) | 0.013 | [18] | |
| Glucose metabolism-related genes | ||||||||||
| GCKR | rs1260326 | T = 0.2933/1469 | AA | estimated GFR | T2D | European | 2,097 | 1.12 (β) | 4.27×10–2 | [25] |
| TCF7L2 | rs7903146 | T = 0.2278/1141 | CC | T2DN | T2D | Caucasians | 1,355 | 1.97 (T) | <0.001 | [31] |
| rs11196218 | A = 0.2500/1252 | CC | T2DN | T2D | Chinese | 898 | 1.37 | 0.0051 | [30] | |
| Angiogenesis-related genes | ||||||||||
| EPO | rs1617640 | C = 0.3253/1629 | meta | DN | total | European | 2,572 | 1.47 | <0.05 | [42] |
| meta | PDR+ESRD | T1D | European | 7,007 | 1.31 | 2×10–9 | [39] | |||
| VEGFA | rs833061 | C = 0.3698/1852 | meta | T1DN | T1D | European | 543 | 0.67 | <0.00001 | [38] |
| Genes related to renal structure and function | ||||||||||
| FRMD3 | rs10868025 | G = 0.2800/1402 | meta | albuminuria with ESRD | T1D | 9 white | 1,705 | 1.45 (A [G]) | 5×10–7 | [81] |
| rs1888747 | C = 0.1979/991 | meta | albuminuria with ESRD | T1D | white | 1,705 | 1.45 (G [C]) | 6.3×10–7 | ||
| SHROOM3 | rs17319721 | A = 0.2238/1121 | meta | eGFR | T2D | Tayside, Scotland | 3,028 | 1.02 (A, HR) | 3.18×10–3 | [25] |
| Inflammation and oxidative stress-related genes | ||||||||||
| ELMO1 | rs10951509 | G = 0.4289/2148 | CC | T2D-ESRD | T2D | American Indians | 772 | 2.42 (A) | 0.002 | [78] |
| T2DN | T2D | Chinese | 200 | 1.76 (A) | 0.02 | [49] | ||||
| Intron 18+9170 A/G | ND | CC | T2DN | T2D | Japanese | 732 | 2.67 (GG vs. GA+AA) | 0.000008 | [46] | |
| rs1345365 | G = 0.4347/2177 | CC | T2D-ESRD | T2D | American Indians | 772 | 2.42 (A) | 0.001 | [78] | |
| CC | T2DN | T2D | Chinese | 200 | 3.27 (A) | 0.004 | [49] | |||
| TGF-β1 | rs1800470 | G = 0.4547/2277 | CC | T2D | T2D | Mexico inhabitants | 439 | 1.818 | 0.016 | [58] |
| 915 G>C | ND | CC | T2DN | T2D | Mexico inhabitants | 439 | 4.073 | 0.008 | [58] | |
| Genes related to the RAAS system | ||||||||||
| ACE I/D | rs1799752 | ND | CC | persistent microalbuminuria | T1D | Caucasians | 1,365 | 0.62 (DI/II) | 0.009 | [64] |
| CC | T2D-ESRD | T2D | Chinese Han | 432 | 2.23 (DD vs. II+ID) | 0.005 | [70] | |||
| AGTR1 | rs5186 (A1166C) | C = 0.1178/590 | CC | T1DN, male | T1D | Denmark, Finland, France, and Sweden | 3,561 | 1.27 (AA vs. AC+CC) | 0.03 | [73] |
| meta | DN | total | Caucasian, Asian | ND | 2.1 (CC vs. AA) | 0 | [75] | |||
| meta | DN | total | Caucasian, Asian | ND | 2.11 (dominant) | 0 | ||||
| Other susceptibility genes | ||||||||||
| SLC12A3 | rs11643718 | A = 0.0799/400 | CC | T2DN | T2D | Malaysian | 1,417 | 0.547 | 0.038 | [77] |
| CC | T2D-ESRD | T2D | Chinese | 372 | 2.2 (GA+AA) | 0.019 | [76] | |||
| CC | T2D-ESRD | T2D | Koreans | 358 | 2.295 | 0.003 | [79] | |||
| RAB38/CTSC | rs649529 | T = 0.4846/2427 | GWAS | UACR | T1D | European | 7,787 | 0.14 (β) | 5.8×10–7 | [82] |
MAF, global minor allele frequency; OR, odds ratio, the words in brackets mean contrast alleles or genotypes; HR, hazard ratio; β, β value; ND, no data; DN, diabetic nephropathy; T1D, type 1 diabetes; T2D, type 2 diabetes; ESRD, end-stage renal disease; T2D-ESRD, patients with T2D and end-stage renal disease; T1D-ESRD, patients with T1D and end-stage renal disease; T2DN, type 2 diabetes-related nephropathy; T1DN, type 1 diabetes-related nephropathy; PDR, proliferative diabetic retinopathy; eGFR, estimated glomerular filtration rate; UACR, urea albumin creatinine ratio; GWAS, genome-wide association study; CC, case-control study; cohort, prospective cohort; AA, association analysis; dominant, dominant model; recessive, recessive model; additive, additive model.