biostudies-literaturePetersdorf EWNIAID NIH HHSNHLBI NIH HHSNCI NIH HHS2524-2531https://www.ebi.ac.uk/biostudies/studies/S-EPMC6097831biostudies-literatureUnknown36(24)Purpose HLA mismatching increases mortality after unrelated donor hematopoietic cell transplantation. The role of the patient's germline variation on survival is not known. Patients and Methods We previously identified 12 single nucleotide polymorphisms within the HLA region as markers of transplantation determinants and tested these in an independent cohort of 1,555 HLA-mismatched unrelated transplants. Linkage disequilibrium mapping across class II identified candidate susceptibility features. The candidate gene was confirmed in an independent cohort of 3,061 patients. Results Patient rs429916AA/AC was associated with increased transplantation-related mortality compared with rs429916CC (hazard ratio [HR], 1.39; 95% CI, 1.12 to 1.73; P = .003); rs429916A positivity was a proxy for DOA*01:Journal of clinical oncology : official journal of the American Society of Clinical OncologyPatient HLA Germline Variation and Transplant Survivorship.PMC6097831R01 CA100019U01 AI069197P01 CA018029U24 CA076518R01 AI121242U01 CA162194U01 HL069294Strong RKMalkki MHaagenson MDHorowitz MMWang TPetersdorf EWStevenson PSpellman SRGooley TfalsePatient HLA Germline Variation and Transplant Survivorship.Purpose HLA mismatching increases mortality after unrelated donor hematopoietic cell transplantation. The role of the patient's germline variation on survival is not known. Patients and Methods We previously identified 12 single nucleotide polymorphisms within the HLA region as markers of transplantation determinants and tested these in an independent cohort of 1,555 HLA-mismatched unrelated transplants. Linkage disequilibrium mapping across class II identified candidate susceptibility features. The candidate gene was confirmed in an independent cohort of 3,061 patients. Results Patient rs429916AA/AC was associated with increased transplantation-related mortality compared with rs429916CC (hazard ratio [HR], 1.39; 95% CI, 1.12 to 1.73; P = .003); rs429916A positivity was a proxy for DOA*01:2018-01-01T00:00:00Z2018 Aug2025-04-19T04:38:26.737Z2019-08-23T07:00:22ZS-EPMC60978312990210610.1200/JCO.2017.77.653410.1200/jco.2017.77.6534