Table 1.
Genome-wide linkage studies for diabetic nephropathy and retinopathy
| 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] |
1
Overlapped region. MLS: Maximum LOD score; DN: Diabetic nephropathy; ESRD: End-stage renal disease; GFR: Glomerular filtration rate; ACR: Albumin-to-creatinine ratio; DR: Diabetic retinopathy.