Table 1. Independent replication of loci associated with CKD identified from GWASs.
| Gene (chromosome) | SNP | Ethnicity of discovery cohort | Participants (cases) | Replication cohort | Reference |
|---|---|---|---|---|---|
| Population-based CKD | |||||
| UMOD (16p12.3) | rs12917707 | European | 19,877 (2,388) | European | Köttgen et al.35 |
| PRKAG2 (7q36.1) | rs7805747 | European | 62,237 (5,807) | European | Köttgen et al.15 |
| MYH9 (22q12.3) | rs4821480 | European | 13,133 (1,236) | European | O'Seaghdha et al.53 |
| Diabetic nephropathy | |||||
| SOD1 (21q22.11) | rs17880135 | White | 1,362 (212)* | European Asian‡ | Al-Kateb et al.,94 Lim et al.,95 Nomiyama et al.,96 Lee et al.,97 Möllsten et al.98 |
| ELMO1 (7p14) | rs741301 | Asian | 188 (94) | European African American | Leak et al.,58 Pezzolesi et al.,59 Shimazaki et al.60 |
| CNDP1/CNDP2 (18q22.3) | Trinucleotide repeat | European Arabian | 242 (135) | European African American§ | Janssen et al.,99 Freedman et al.,100 McDonough et al.101 |
| FRMD3 (9q21-22) | rs1888746; rs13289150 | European | 1,705 (820) | European | Pezzolesi et al.55 |
| GREM1 (15q13.3) | rs1129456 | European | 709 (267) | European | McKnight et al.102 |
| CARS (11p15.5) | rs739401; rs451041 | European | 1,705 (820) | European | Pezzolesi et al.55 |
| ACACB (12q24.1) | rs2268388 | Asian | 188 (94) | European | Maeda et al.62 |
| PVT1 (8q24.21) | rs2648875 | Pima Indian | 207 (105) | European | Millis et al.,103 Hanson et al.104 |
| eGFR | |||||
| ANXA9/LASS2 (1q21.3) | rs267734 | European | 67,093 | European African American | Köttgen et al.,15 Chambers et al.,40 Liu et al.43 |
| GCKR (2p23) | rs1260326 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| ALMS1/NAT8 (2p13) | rs13538 | European | 67,093 | European African American | Köttgen et al.,15 Chambers et al.,40 Liu et al.43 |
| TFDP2 (3q23) | rs347685 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| SHROOM3 (4q21.1) | rs17319721 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| DAB2 (5p13) | rs11959928 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| SLC34A1 (5q35) | rs6420094 | European | 67,093 | European | Köttgen et al.15 |
| VEGFA (6p12) | rs881858 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| PRKAG2 (7q36.1) | rs7805747 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| PIP5K1B (9q13) | rs4744712 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| ATXN2/SH2B3 (12q24.1) | rs653178 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| DACH1 (13q22) | rs626277 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| UBE2Q2 (15q24.2) | rs1394125 | European | 67,093 | European African American | Köttgen et al.,15 Liu et al.43 |
| SLC7A9 (19q13.1) | rs12460876 | European | 67,093 | European African American | Köttgen et al.,15 Chambers et al.,40 Liu et al.43 |
| KCNQ1 (11p15.5) | rs7111394 | African American | 8,110 | European | Liu et al.43 |
| Albuminuria | |||||
| CUBN (10p12.31) | rs1801239 | European | 31,580 | European African American | Böger et al.65 |
*
No P value for replication of <0.05 in three cross-sectional studies.
§
Did not replicate in one study of European individuals.107
Abbreviations: CKD, chronic kidney disease; eGFR, estimated glomerular filtration rate; GWAS, genome-wide association study; SNP, single nucleotide polymorphism.