Copyright
©The Author(s) 2015.
World J Diabetes. Jun 10, 2015; 6(5): 715-725
Published online Jun 10, 2015. doi: 10.4239/wjd.v6.i5.715
Published online Jun 10, 2015. doi: 10.4239/wjd.v6.i5.715
Ethnicity and sample size | Type of diabetes | Phenotype definition | Linkage region (LOD score or P-value or MLS) | Ref. |
Diabetic nephropathy | ||||
954 African American, 781 American Indians, 614 European American, 1611 Mexican Americans (FIND) | 1 + 2 | Estimated GFR | 10p12.311 (LOD: 2.16), 1q431 (2.26), 2q31.3 (1.91), 3p12.1 (2.19), 7q11.22 (2.19), 10p141 (2.16), 15q12 (2.84), 20q11.111 (3.34) | [13] |
218 African American, 335 American Indians, 119 European American, 469 Mexican Americans (FIND) | 1 + 2 | Urine ACR | 7q21.3 (P = 8.6 x 10-5), 10p15.31 (1.29 x 10-5), 14q23.1 (7.8 x 10-4), 18q22.31 (2.17 x 10-3) | [14] |
3972 Americans (African American, American Indians, European American, Mexican Americans) (FIND) | 1 + 2 | DN defined by macroalbuminuria or ESRD, ACR | DN: 1q431 (LOD: 2.00), 6p24.3 (2.84), 7p21.3 (2.81), 10p15.11 (2.10), 11p15.3 (2.28), 15q21.1 (2.04)ACR: 2q22.3 (2.04), 3p13 (2.76), 7q21.2 (2.96), 16q13 (2.31), 22q12.31 (2.29) | [23] |
882 American (African American, American Indians, European American, Mexican Americans) (FIND) | 1 + 2 | eGFR | 1q431 (LOD: 1.87), 7q36.1 (4.23), 8q13.3 (2.75), 15q22.3 (2.08), 18q23.3 (1.40) | [24] |
100 United States sibling pairs (Joslin Study on Genetics of Diabetic Nephropathy) | 1 | Proteinuria or ESRD | 1q441 (MLS: 1.6), 2q14.1 (2.1), 3p13 (0.6), 5q14.2 (2.7), 10q26.1 (2.4), 17p13.1 (1.9), 19q13.431 (3.1), 20p12.1 (1.8) | [15] |
63 extended United States families (Joslin Study on Genetics of Diabetic Nephropathy) | 2 | GFR | 2q33.3 (LOD: 4.1), 10q23.31 (3.1), 18p11.22 (2.2) | [19] |
556 Finnish, Danish, and French (FinnDiane) | 1 | Macroalbuminuria or ESRD | 3q21-251 (LOD: 0.76), 6p21 (2.31), 9p21.2, 16p12, 19q131 (1.61), 22q11 (2.78) | [16] |
83 Finnish sibling pairs | 1 | Macroalbuminuria or ESRD | 3q21.3-231 (MLS: 2.67) | [21] |
18 Turkish family + 101 sibling pairs of Pima India | 2 | Macroalbuminuria | 18q22.3-231 (max LOD:6.14) | [17] |
201 Pima India sibling pairs | 2 | Macroalbuminuria or ESRD | 3q26.11 (LOD: 1.48), 7q32.3 (2.04), 20p12.3 (1.83) | [18] |
206 African American sibling pairs | 2 | ESRD | 3q13.31 (LOD: 4.55), 7p21.1 (3.59), 18q22.11 (3.72) | [22] |
691 West African | 2 | GFR | 7p12.2 (LOD: 1.84), 16q24.1 (3.56), 17p13.2 (2.08) | [20] |
Diabetic retinopathy | ||||
282 Mexican American sibling pairs | 2 | Non-proliferative DR and proliferative DR | 3q12.3 (LOD: 2.41), 12p13.31 (2.47), 20q13.12 (4.47), 6p24.1 (2.28), 15q26.3 (2.53), 19q13.42 (2.21) | [45] |
725 Pima Indian sibling pairs | 2 | Worse eye score | 1p36.13 (LOD: 3.1) | [46] |
210 Pima Indian sibling pairs | 2 | Hemorrhage, microaneurysm, and proliferative DR | 3q26.31 (LOD: 1.36), 9q22.33 (1.46) | [18] |
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] |
- Citation: Chang YC, Chang EYC, Chuang LM. Recent progress in the genetics of diabetic microvascular complications. World J Diabetes 2015; 6(5): 715-725
- URL: https://www.wjgnet.com/1948-9358/full/v6/i5/715.htm
- DOI: https://dx.doi.org/10.4239/wjd.v6.i5.715