Gespeichert in:
| Beteilige Person: | |
|---|---|
| Format: | Hochschulschrift/Dissertation Buch |
| Sprache: | Englisch |
| Veröffentlicht: |
2009
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| Schlagwörter: | |
| Links: | http://edoc.ub.uni-muenchen.de/9974/ https://nbn-resolving.org/urn:nbn:de:bvb:19-99742 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017382492&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| Umfang: | V, 106 S. Ill., graph. Darst. |
Internformat
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| adam_text | Titel: Genetic association analysis with survival phenotypes
Autor: Müller, Andrea Martina
Jahr: 2009
Table of Contents
Acknowledgements......................................................................................................i
Table of Contents.......................................................................................................iii
1 Introduction..........................................................................................................1
1.1 General Introduction.....................................................................................1
1.2 Epidemiologic studies...................................................................................2
1.2.1 Common study types in epidemiology...................................................2
1.2.2 Terminology..........................................................................................3
1.2.3 Statistical methods for analysis of association in epidemiologic studies 3
1.2.3.1 Methods for cross-sectional and case-control studies..............................................3
1.2.3.2 Methods for cohort studies........................................................................................5
1.3 Background in genetics..............................................................................11
1.3.1 The human genome............................................................................11
1.3.2 Single nucleotide polymorphisms........................................................14
1.3.2.1 Single nucleotide polymorphisms as genetic markers............................................14
1.3.2.2 Genotyping..............................................................................................................15
1.3.23 Quality control.........................................................................................................16
1.4 Genetic association studies........................................................................18
1.4.1 Localisation of phenotype-associated genetic variants.......................18
1.4.2 Genetic effect models.........................................................................19
1.4.2.1 Genetic effect model definition................................................................................19
1.4.2.2 Coding of SNP variables.........................................................................................21
1.4.3 Methods to quantify the genetic effect.................................................21
1.4.3.1 Estimation of genetic effect sizes............................................................................21
1.4.3.2 Quantification of the impact of genetic variants......................................................22
2 Impact of genetic variants on survival phenotypes.............................................26
2.1 Aim of the study..........................................................................................26
2.1.1 Genetic association analysis with survival phenotypes.......................26
2.1.2 Measures of the impact of genetic variants on survival phenotypes... 27
2.1.3 Aim of this thesis.................................................................................28
2.1.4 Literature search.................................................................................29
21.4.1 Overview of available criteria..................................................................................29
21.4.2 Criteria selection.....................................................................................................31
2.2 Methods.....................................................................................................31
2.2.1 The three selected criteria...................................................................31
2.2.1.1 Criterion based on cumulated hazard (Km**)........................................................31
2.2.1.2 Criteria based on variation of individual survival curves (V and V?).......................32
22.1.3 Criterion based on variation of Schoenfeld residuals (R _,)..................................34
2.2.2 Simulation studies...............................................................................35
2.2.2.1 Simulation of genetic variants.................................................................................35
2.2.2.2 Simulation of survival outcome...............................................................................36
2.2.2.3 Simulation of censoring times.................................................................................36
2.2.2.4 Extended simulation scenarios with continuous covariates....................................37
2.2.2.5 Bivariate simulations with genetic variants and a continuous covariate.................38
2.2.2.6 Statistical analysis and simulation summary...........................................................38
2.2.3 Real data analysis...............................................................................39
2.2.3.1 The KORA data S3/F3 for survival analysis............................................................39
2.2.3.2 Adding simulation of SNPs associated with mortality.............................................41
2.2.3.3 Statistical analysis and the impact of the genetic variants......................................42
2.3 Results.......................................................................................................43
2.3.1 Results from SNP simulation studies..................................................43
2.3.1.1 Overview.................................................................................................................43
2.3.1.2 Reasonable values in the range [0;1].....................................................................44
2.3.1.3 Dependence on the genetic effect size...................................................................5°
2.3.1.4 Dependence on censoring......................................................................................51
2.3.2 Results from simulations for a single continuous covariate.................54
2.3.3 Results from combining a SNP with a strong continuous predictor.....57
2.3.4 Results from real data analysis...........................................................60
2.3.4.1 KORA real SNP analysis........................................................................................60
23.4.2 Analysis of artificial SNPs in KORA........................................................................66
__________________________________________________________________y
3 Discussion..........................................................................................................68
3.1 Overview....................................................................................................68
3.2 Main results................................................................................................69
3.3 Criteria selection.........................................................................................72
3.4 Criteria characterisation.............................................................................73
3.4.1 Characteristics of ftdnorm......................................................................73
3.4.2 Characteristics of V.............................................................................75
3.4.3 Characteristics of R sct,........................................................................76
3.5 Outlook.......................................................................................................77
3.5.1 Strengths and limitations.....................................................................77
3.5.2 Possible applications and extensions of R2?*.....................................78
3.6 Conclusion.................................................................................................81
Summary...................................................................................................................83
Zusammenfassung....................................................................................................85
References................................................................................................................88
Appendix....................................................................................................................95
A1. List of publications and presentations.......................................................96
A2. Curriculum vitae.........................................................................................104
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| spellingShingle | Müller, Andrea Martina 1974- Genetic association analysis with survival phenotypes |
| subject_GND | (DE-588)4113937-9 |
| title | Genetic association analysis with survival phenotypes |
| title_auth | Genetic association analysis with survival phenotypes |
| title_exact_search | Genetic association analysis with survival phenotypes |
| title_full | Genetic association analysis with survival phenotypes by Andrea Martina Müller |
| title_fullStr | Genetic association analysis with survival phenotypes by Andrea Martina Müller |
| title_full_unstemmed | Genetic association analysis with survival phenotypes by Andrea Martina Müller |
| title_short | Genetic association analysis with survival phenotypes |
| title_sort | genetic association analysis with survival phenotypes |
| topic_facet | Hochschulschrift |
| url | http://edoc.ub.uni-muenchen.de/9974/ https://nbn-resolving.org/urn:nbn:de:bvb:19-99742 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017382492&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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