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Association of FOXP3 polymorphisms with clinical outcomes after allogenic hematopoietic stem cell transplantation : FOXP3 단일염기다형성과 동종 조혈모세포이식 성적과의 연관성

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dc.contributor.advisor송은영-
dc.contributor.author남민정-
dc.date.accessioned2018-11-12T00:54:00Z-
dc.date.available2018-11-12T00:54:00Z-
dc.date.issued2018-08-
dc.identifier.other000000151876-
dc.identifier.urihttps://hdl.handle.net/10371/143006-
dc.description학위논문 (박사)-- 서울대학교 대학원 : 의과대학 의학과, 2018. 8. 송은영.-
dc.description.abstractBackground: Forkhead box P3 (FOXP3) is an important marker of regulatory T cells. FOXP3 polymorphisms are associated with autoimmune diseases, cancers, and allograft outcome. 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 from April 2006 to August 2014 at Seoul National University Hospital. 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 (grade 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
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dc.description.tableofcontentsAbstract..........................................................................................i

Contents........................................................................................iii

List of tables...................................................................................v

List of figures.................................................................................vi

List of abbreviations......................................................................vii



1. Introduction...............................................................................1

2. Materials and Methods..............................................................5

2.1. Subjects..................................................................................5

2.2. SNP selection .........................................................................9

2.3. DNA preparation and FOXP3 SNP genotyping.......................13

2.4. Luciferase gene reporter assays.............................................16

2.5. Statistical analysis.................................................................18

3. Results....................................................................................19

3.1. Demographic profile and clinical characteristics of patients and donors........................................................................................19

3.2. Association of FOXP3 SNPs and acute GVHD (Grade II-IV).....20

3.3. Association of FOXP3 SNPs and post-HSCT infection.............27

3.4. Association of FOXP3 SNPs and relapse and patient survival..35

3.5. Luciferase gene reporter activity at SNP rs3761549...............42

4. Discussion..............................................................................44

References.................................................................................50

Abstract in Korean.....................................................................58
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dc.language.isoen-
dc.publisher서울대학교 대학원-
dc.subject.ddc610-
dc.titleAssociation of FOXP3 polymorphisms with clinical outcomes after allogenic hematopoietic stem cell transplantation-
dc.title.alternativeFOXP3 단일염기다형성과 동종 조혈모세포이식 성적과의 연관성-
dc.typeThesis-
dc.contributor.AlternativeAuthorNam, Minjeong-
dc.description.degreeDoctor-
dc.contributor.affiliation의과대학 의학과-
dc.date.awarded2018-08-
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