TABLE 2.
Summaries of genome-wide association studies in the solid organ transplantation.
| Study | Gene | Variants | Outcome | Sample size | Graft | Ethnicity |
|---|---|---|---|---|---|---|
| O’Brien et al54 | ZNF516, TRA | rs6565887, rs3811321 | 5-y creatinine variance and long-term allograft function | 326 transplant recipients | Kidney | Irish |
| McCaughan et al86 | ATP5F1P6, DNAJC16, CELA2B, AGMAT, CASP9, NOX4, NPPA, INPP5A | rs10484821, rs7533125, rs2861484, rs11580170, rs2020902, rs1836882, rs198372, rs4394754 | New-onset diabetes after transplantation | 529 individuals consisting 57 NODAT patients | Kidney | United Kingdom |
| Sanders et al40 | CACNA1D, CSMD1 | rs3774611, rs13270945 | Cutaneous squamous cell carcinoma developed after transplantation | 71 kidney- and 17 heart- recipients as discovery; 265 kidney- and 35 heart-recipients as controls | Kidney and heart | American |
| Oetting et al34 | CYP3A5*6, CYP3A5*7 | rs10264272, rs41303343 | Tacrolimus trough concentrations in blood | 197 adult transplant recipients and 160 recipients for validation | Kidney | African American |
| Ghisdal et al31 | PTPRO, CCDC67 | rs7976329, rs10765602 | Acute renal rejection | 275 cases and 503 controls as discovery, 313 cases and 531 controls as replication | Kidney | European |
| Hernandez-Fuentes et al33 | – | None donor or recipient genetic variant | Long- or short-term allograft survival | 2094 transplant pairs as discovery and 5866 pairs as replication | Kidney | United Kingdom |
| Oetting et al35 | CYP3A4*22 | rs35599367 | TAC concentrations | 1345 adult recipients | Kidney | European American |
| Pihlstrøm et al41 | 27-SNP genetic risk score | rs9818870, rs17609940, rs4977574, rs4773144 | Cardiovascular diseases | 1640 participants | Kidney | European |
| Liu et al87 | – | rs1927321, rs1057192 (donors) | Tacrolimus concentration in convalescence period | 115 donors and 115 matched recipients | Liver | Chinese |
| Liu et al87 | CYP3A5 | rs776746, rs2667662, rs7980521, rs4903096 (donors) and rs7828796, rs776746 (recipients) | Tacrolimus concentration in stabilizing period | 115 donors and 115 matched recipients | Liver | Chinese |
| Stapleton et al42 | Polygenic risk scores | eGFR at 1-y posttransplant | 10 844 donors and recipients from 5 cohorts | Kidney | European | |
| Stapleton et al88 | Polygenic risk scores | Squamous cell carcinoma, basal cell carcinoma and nonmelanoma skin cancer | 889 transplant recipients, 239 developed NMSC with 106 developed BCC and 150 developed SCC | Kidney | European | |
| Zhang et al89 | Proportion of genome-shared identity-by-descent | Death-censored allograft loss | 385 donor-recipient pair transplants | Kidney | United States | |
| Li et al44 | AK4, RGS5 | rs11208611-T, rs10917696-C | Thrombosis after transplantation | 1085 donors of 775 for adult recipients and 310 for paediatric recipients | Liver | European |
BCC, basal cell carcinoma; eGFR, estimated glomerular filtration rate; NMSC, nonmelanoma skin cancer; NODAT, New-onset diabetes after transplantation; SCC, squamous cell carcinoma; TAC, tacrolimus.