Ann Lab Med 2018; 38(6): 591-598
Association of FOXP3 Single Nucleotide Polymorphisms With Clinical Outcomes After Allogenic Hematopoietic Stem Cell Transplantation
Minjeong Nam, M.D.1, Sue Shin, M.D.1, Kyoung Un Park, M.D.1, Inho Kim, M.D.2, Sung-Soo Yoon, M.D.2, Tack-Kyun Kwon, M.D.3, and Eun Young Song, M.D.1
Departments of 1Laboratory Medicine, 2Internal Medicine, and 3Otorhinolaryngology, Seoul National University College of Medicine, Seoul, Korea
Corresponding author: Eun Young Song
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel: +82-2-2072-2548
Fax: +82-2-747-0359
Co-corresponding author: Tack-Kyun Kwon
Department of Otorhinolaryngology, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel: +82-2-870-2445
Fax: +82-2-870-2459
Received: November 27, 2017; Revised: January 16, 2018; Accepted: June 22, 2018; Published online: November 1, 2018.
© Korean Society for Laboratory Medicine. All rights reserved.

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Background: Forkhead box P3 (FOXP3) is an important marker of regulatory T cells. FOXP3 polymorphisms are associated with autoimmune diseases, cancers, and allograft outcomes. We examined whether single nucleotide polymorphisms (SNPs) at the FOXP3 locus are associated with clinical outcomes after allogenic hematopoietic stem cell transplantation (HSCT).
Methods: Five FOXP3 SNPs (rs5902434, rs3761549, rs3761548, rs2232365, and rs2280883) were analyzed by PCR-sequencing of 172 DNA samples from allogenic HSCT patients. We examined the relationship between each SNP and the occurrence of graft-versus-host disease (GVHD), post-HSCT infection, relapse, and patient survival.
Results: Patients with acute GVHD (grades II-IV) showed higher frequencies of the rs3761549 T/T genotype, rs5902434 ATT/ATT genotype, and rs2232365 G/G genotype than did patients without acute GVHD (P=0.017, odds ratio [OR]=5.3; P=0.031, OR=2.4; and P=0.023, OR=2.6, respectively). Multivariate analysis showed that the TT genotype of rs3761549 was an independent risk factor for occurrence of acute GVHD (P=0.032, hazard ratio=5.6). In contrast, the genotype frequencies of rs3761549 T/T, rs5902434 ATT/ATT, and rs2232365 G/G were lower in patients with post-HSCT infection than in patients without infection (P=0.026, P=0.046, and P=0.031, respectively).
Conclusions: rs3761549, rs5902434, and rs2232365 are associated with an increased risk of acute GVHD and decreased risk of post-HSCT infection.
Keywords: Allogenic hematopoietic stem cell transplantation, FOXP3, Graft-versus-host disease, Infection, Polymorphism

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