2014-01-012024-05-13https://scholars.lib.ntu.edu.tw/handle/123456789/650422摘要：在未來的四年計畫期間，我們有信心要完成全世界葛瑞夫茲氏病研究領域內的第一個具有高檢力（2,000病人，2,000對照組）又有完整涵蓋性的全基因體規模關連研究。兩階段性全基因體規模關連研究已被明顯證明可以節省大量支出卻仍能保有幾乎所有的檢力，而因為我們已經有了246病人以及1,000對照組的所有基因型，我們可以在第一階段全基因體規模關連分析再額外節省超過百分之六十以上的支出。我們也將整合HLA以及套數變異的資料進入所有的分析，而且將測試HLA 和其他所有基因的可能交互作用。一旦發現了可能的致病基因以及致病對偶基因型，我們將進行最合適的實驗來測試它們可能造成的功能影響，進而找出真正的致病基因。而最直接在臨床上馬上可以獲益的研究成果則會是我們建立的疾病危險性預估模型。<br> Abstract: In the upcoming new 4-year project period, we have confidence to perform the first statistically wellpoweredtwo-stage GWAS (2,000 GD cases and 2,000 controls) for GD, with unbiased genome coverage.A two-stage GWAS will substantially save the cost while maintaining the power. Because of theavailability of genome-wide SNP genotypes from 246 GD cases and 1,000 controls, we can further savegreater than 60% cost for first-stage GWAS. HLA genotypes and CNVs will also be incorporate inGWAS, and interaction of HLA with other SNPs will be tested. We will then perform functional assays toidentify and verify the genuine causative variants. The immediate clinically relevant aim is to build a GDrisk prediction model based on genetic information.Identification of susceptibility genes will pave the road to better scientific research. Discovery ofpopulation-specific risk alleles/genes will be invaluable because this kind of knowledge can never begenerated from other populations. A good disease risk prediction model has the potential for personalizedmedicine. Furthermore, breakthrough in GD study might even shed light on research of other autoimmunediseases.葛瑞夫茲氏病自體免疫疾病全基因體規模關連研究人類白血球抗原疾病危險性預估Greaves diseaseautoimmune diseasegenome-wide association study (GWAS)Human Leukocyte Antigen (HLA)risk prediction model