Patients of stoma caused by the colorectal disease or trauma are increasing and most of the patients are keen to have their stoma closed as early as possible to lower the burdens in their life. However, stoma often associated with complications such as wound. The interval between constructing and closing of stoma is still controversial. This study will figure out a way to predict an appropriate timing of stoma closure to get better outcome by using NHI database, from January 1, 2007 to December 31, 2008, in Taiwan. In 463 stoma closure patients, mean age: 65.94 years, ratio of male to female: 1.66, 70.19% Colostomy, 29.81% Ileostomy, mean timing: 156.73 days, mean length of stay: 10.81 days, mean fees: 57,698.06 TWD, only one death in hospital, 35 readmission within 30 days after discharged; with £\ = 0.05 level, the timing is significant in comorbidity, primary diagnosis; the outcomes are associated with the timing of stoma closure, comorbidity, patients¡¦ age and gender, hospital ownership and physician annual volume. Through this study, a perfect timing of stoma closure should be determined by the characteristics of patient and physician. Physicians could predict the timing through the stratified analysis and well organize the resource of hospital to improve the quality of medical care.

Ankylosing spondylitis (AS) is a common inflammatory arthritis of the spine and other affected joints, which is highly heritable, being strongly influenced by the HLA-B27 status, as well as hundreds of mostly unknown genetic variants of smaller effect. The aim of my research was to confirm some of the previously observed genetic associations and to identify new associations, many of which are in biological pathways relevant to AS pathogenesis, most notably the IL-23/T_H17 axis (IL23R) and antigen presentation (ERAP1 and ERAP2). Studies presented in this thesis include replication and refinement of several potential associations initially identified by earlier GWAS (WTCCC-TASC, 2007 and TASC, 2010). I conducted an extended study of IL23R association with AS and undertook a meta-analysis, confirming the association between AS and IL23R (non-synonymous SNP rs11209026, p=1.5 x 10-9, OR=0.61). An extensive re-sequencing and fine mapping project, including a meta-analysis, to replicate and refine the association of TNFRSF1A with AS was also undertaken; a novel variant in intron 6 was identified and a weak association with a low frequency variant, rs4149584 (p=0.01, OR=1.58), was detected. Somewhat stronger associations were seen with rs4149577 (p=0.002, OR=0.91) and rs4149578 (p=0.015, OR=1.14) in the meta-analysis. Associations at several additional loci had been identified by a more recent GWAS (WTCCC2-TASC, 2011). I used in silico techniques, including imputation using a denser panel of variants from the 1000 Genomes Project, conditional analysis and rare/low frequency variant analysis, to refine these associations. Imputation analysis (1782 cases/5167 controls) revealed novel associations with ERAP2 (rs4869313, p=7.3 x 10-8, OR=0.79) and several additional candidate loci including IL6R, UBE2L3 and 2p16.3. Ten SNPs were then directly typed in an independent sample (1804 cases/1848 controls) to replicate selected associations and to determine the imputation accuracy. I established that imputation using the 1000 Genomes Project pilot data was largely reliable, specifically for common variants (genotype concordence~97%). However, more accurate imputation of low frequency variants may require larger reference populations, like the most recent 1000 Genomes reference panels. The results of my research provide a better understanding of the complex genetics of AS, and help identify future targets for genetic and functional studies.