P1202 Genome wide association study result for inflammatory bowel disease: A single institute experience in Taiwan

Abstract

Abstract Background Inflammatory bowel disease (IBD) have two major subtype disease, including Crohn’s disease(CD) and Ulcerative colitis(UC). These two diseases of IBD in which abnormal reactions of the immune system induced inflammation and ulcers in any part of gastrointestinal tract from oral cavity to rectum, especially in colon and small intestine. Now, IBD still not have an identifiable cause and many articles that discussion about risk loci of IBD was published in recent years. Hence, we try to identify the risky locus related with IBD. Methods From January 1992 to December 2023, we retrospectively reviewed the medical records of patients diagnosed as inflammatory bowel disease at our hospital. We also use Phecode Map with ICD9 codes for finding out more pateints. Then, we used the our hospital’s genetic data warehouse to assay these patient’s genome for identifying the specific loci associated with inflammatory bowel disease. Results A total of 286 patients with inflammatory bowel disease from January 1992 to December 2023 was in medical record. The number of Crohn's disease and ulcerative colitis were 102 and 184 respectively. However, only 85 patient with CD and 145 patient with UC were in our hospital’s genetic data warehouse. In addition, we seek cooperation with our hospital’s artificial Intelligence Center for using Phecode Map with ICD9 codes for finding out more patients. Finally, 660 case was in genetic data warehouse.The our result of Genome-wide association study (GWAS) for inflammatory bowel disease that identified 15 potential SNPs, such as RTN4, EML6, CLHC1, MYO10, EFEMP1, ADCY2, TPD52 etc.. Two of 15 potential SNPs, NPAS3, DSCAM has been found to be a risky SNPs of IBD in past study and our result of GWAS for IBD. Another 13 SNPs was potential association with IBD in our result, but not well-known risky gene in past research. Only one genetic locus: CRY2 had statistically significant difference and vaule of -log10(p) is more than 6. But, no similar thesis was reported after we review other published papers about loci associated with inflammatory bowel disease. The relationship between CRY2 and inflammatory bowel disease is still pending investigation. Conclusion Although, around 200 genomic loci was considered to be associated with inflammatory bowel disease. But, the precise mechanism by which these loci contribute to IBD were still being investigated. However, more genetic loci associated with IBD was identified can lead us to approach the understanding of the underlying biology of the disease.