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Peer-reviewedCC BY 4.0Current Opinion in Organ Transplantation

GWAS studies and polygenic risk scores in organ transplantation

  • Sabrina Stimmeder1,2
  • Eleonora A.M. Festen3
  • Vincent E. de Meijer1,4
4 affiliations
  1. 1Department of Surgery, Section of Hepatobiliary Surgery and Liver Transplantation, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands
  2. 2Department of Surgery, Division of General, Visceral and Transplant Surgery, Medical University of Graz, Graz, Austria
  3. 3Department of Gastroenterology and Hepatology, University Medical Center Groningen and University of Groningen
  4. 4UMCG Comprehensive Transplant Center, University Medical Center Groningen, Groningen, The Netherlands
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Abstract

Purpose of review: To summarize recent developments published between 1 January 2024 and 15 August 2026 in genome-wide and polygenic analyses of solid organ transplantation, with a focus on kidney, heart, liver, and lung transplantation.

Recent findings: Recent studies demonstrate that posttransplant phenotypes can reflect distinct genetic contributions from the recipient, donor organ, and donor-recipient pair. Donor and recipient polygenic risk scores have been associated with graft function, graft survival, and posttransplant complications, although their incremental predictive value beyond clinical factors has generally been modest. Genome-wide analyses of donor-recipient mismatch have identified genetic differences outside the HLA region associated with rejection and graft loss. Emerging evidence suggests that the biological relevance of mismatch depends not only on the extent of genetic difference, but also on its functional nature and direction. However, most studies remain limited by small, highly selected cohorts, limited independent replication, and predominant European ancestry.

Summary: Genome-wide and polygenic approaches are expanding the conceptual framework of transplant genetics beyond individual variants and HLA matching. Current evidence provides stronger support for biological relevance than clinical utility. Larger, diverse, and deeply phenotyped donor-recipient cohorts are needed to determine whether genome-wide genetic measures can improve posttransplant risk prediction and donor-recipient matching.

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Cite

BibTeXRIS
BibTeX
@article{stimmeder2026gwas,
  title = {{GWAS studies and polygenic risk scores in organ transplantation}},
  author = {Sabrina Stimmeder and Eleonora A.M. Festen and Vincent E. de Meijer},
  journal = {Current Opinion in Organ Transplantation},
  year = {2026},
  month = sep,
  doi = {10.1097/mot.0000000000001316},
  url = {https://doi.org/10.1097/mot.0000000000001316},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - GWAS studies and polygenic risk scores in organ transplantation
AU  - Sabrina Stimmeder
AU  - Eleonora A.M. Festen
AU  - Vincent E. de Meijer
PY  - 2026
DA  - 2026/09/25
JO  - Current Opinion in Organ Transplantation
DO  - 10.1097/mot.0000000000001316
UR  - https://doi.org/10.1097/mot.0000000000001316
AB  - Purpose of review: To summarize recent developments published between 1 January 2024 and 15 August 2026 in genome-wide and polygenic analyses of solid organ transplantation, with a focus on kidney, heart, liver, and lung transplantation.  Recent findings: Recent studies demonstrate that posttransplant phenotypes can reflect distinct genetic contributions from the recipient, donor organ, and donor-recipient pair. Donor and recipient polygenic risk scores have been associated with graft function, graft survival, and posttransplant complications, although their incremental predictive value beyond clinical factors has generally been modest. Genome-wide analyses of donor-recipient mismatch have identified genetic differences outside the HLA region associated with rejection and graft loss. Emerging evidence suggests that the biological relevance of mismatch depends not only on the extent of genetic difference, but also on its functional nature and direction. However, most studies remain limited by small, highly selected cohorts, limited independent replication, and predominant European ancestry.  Summary: Genome-wide and polygenic approaches are expanding the conceptual framework of transplant genetics beyond individual variants and HLA matching. Current evidence provides stronger support for biological relevance than clinical utility. Larger, diverse, and deeply phenotyped donor-recipient cohorts are needed to determine whether genome-wide genetic measures can improve posttransplant risk prediction and donor-recipient matching.
SN  - 1087-2418
SN  - 1531-7013
ER  -