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Investigating the Association of Genetic Admixture and Donor/Recipient Genetic Disparity with Transplant Outcomes Abeer Madbouly, Tao Wang, Michael Haagenson, Vanja Paunic, Cynthia Vierra-Green, Katharina Fleischhauer, Katharine C. Hsu, Michael R. Verneris, Navneet S. Majhail, Stephanie J. Lee, Stephen R. Spellman, Martin Maiers Biology of Blood and Marrow Transplantation Volume 23, Issue 6, Pages (June 2017) DOI: /j.bbmt Copyright © 2017 The American Society for Blood and Marrow Transplantation Terms and Conditions
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Figure 1 (A) Population clusters in the study cohort as output by the software Structure. Study populations are listed first (AFA, API, CAU, HIS, NAM, OTH, MLT, DEC, UNK) followed by the reference 1000 Genomes populations (GBR through TSI). Each vertical line represents an individual's combined admixture while each color represents a genetic admixture constituent (ie, genetic cluster). Population labels refer to self-identification. Orange, blue, green and purple clusters represent EUR, AFR, ASI and SE/A genetic admixture respectively. Notice the similarity in genetic admixture of some self-identified CAU and HIS individuals. (B) Same population clusters as in (A) but displaying only study populations. (C) Genetic clusters of study subjects via PCA, color coded by reported SIRE. The abscissa and ordinate show the first and second principal components respectively. Groups that self-identify similarly roughly cluster together. Some groups cluster more closely than others. For example, the study subset that self-identified as AFA are depicted by the red X's. The genetic admixture of individuals with relatively high AFR admixture formed the top right cluster. Physical distance between different points implies genetic distance. PCA indicates principal components analysis; SIRE, self-identified race/ethnicity; AFA, African-American; API, Asian/Pacific Islander; CAU, European Caucasian; HIS, Hispanic; NAM, Native American; MLT, multiple ethnicity; DEC, declined; OTH, other; UNK, unknown Genomes populations: GBR-British in England and Scotland, FIN-Finnish in Finland, CHS-Southern Han Chinese, PUR-Puerto Ricans from Puerto Rico, CLM-Colombians from Medellin, Colombia, IBS-Iberian Population in Spain, CEU-Utah Residents (CEPH) with Northern and Western European Ancestry, YRI-Yoruba in Ibadan and Nigeria, CHB-Han Chinese in Beijing, JPT-Japanese in Tokyo, LWK-Luhya in Webuye, Kenya, MXL-Mexican Ancestry from Los Angeles, ASW-Americans of African Ancestry in SW USA, TSI-Tuscany in Italy. EUR-European genetic admixture, AFR-African genetic admixture, ASI-Asian genetic admixture, SE/A-South European/Amerindian genetic admixture. (This figure is available in color online at Biology of Blood and Marrow Transplantation , DOI: ( /j.bbmt ) Copyright © 2017 The American Society for Blood and Marrow Transplantation Terms and Conditions
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Figure 2 Probability of overall survival (OS) by African (AFR) genetic admixture. The 5-year probability of OS for (A) recipients with AFR genetic admixture ≤14% and >14% after 10/10 HLA matched transplants was 46% (95% CI, 44 to 49) and 24% (95% CI, 10 to 40), P = .004 respectively. For recipients receiving transplants from (B) donors with AFR genetic admixture ≤23% and >23%, the same probability was 47% (95% CI, 44 to 49) and 13% (95% CI, 3 to 28), P < .001 respectively. Biology of Blood and Marrow Transplantation , DOI: ( /j.bbmt ) Copyright © 2017 The American Society for Blood and Marrow Transplantation Terms and Conditions
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Figure 3 Risk of Transplant related mortality (TRM) by African (AFR) genetic admixture. The 5-year risk of TRM for (A) recipients with AFR genetic admixture ≤14% and >14% after 10/10 HLA-matched transplants was 31% (95% CI, 28 to 33) and 51% (95% CI, 34 to 68), P = .023 respectively. For recipient receiving transplants from (B) donors with AFR genetic admixture ≤23% and >23%, risk of TRM was 30% (95% CI, 28 to 33) and 67% (95% CI, 47 to 84), P < .001, respectively. Biology of Blood and Marrow Transplantation , DOI: ( /j.bbmt ) Copyright © 2017 The American Society for Blood and Marrow Transplantation Terms and Conditions
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Figure 4 Kaplan-Meier disease-free survival (DFS) plots for recipients receiving transplants from donors with AFR genetic admixture ≤23% and >23%. Five-year probability of DFS for donor AFR admixture ≤23% and >23% were 40% (95% CI, 38 to 43) and 8% (95% CI, 1 to 22), P < .001, respectively. Biology of Blood and Marrow Transplantation , DOI: ( /j.bbmt ) Copyright © 2017 The American Society for Blood and Marrow Transplantation Terms and Conditions
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