High Throughput Sequencing of Targeted Immune Genes in RA and SLE

RA 和 SLE 靶向免疫基因的高通量测序

• 批准号: 8524164
• 负责人: Andrey S. Shaw
• 金额: $ 6.95万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-01 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8524164
• 关键词: Accounting; Autoimmune Diseases; Disease; Genes; Genetic Risk; Genomics; Immune; Immune Targeting; Mutation; Patients; Population Analysis; Predisposition; Rheumatism; Rheumatoid Arthritis; Single Nucleotide Polymorphism; Systemic Lupus Erythematosus; Variant; cost; disease-causing mutation; exome; genetic variant; genome wide association study

Despite extensive large population analysis, genome-wide association studies of diseases with single nucleotide polymorphisms (SNPs) have been disappointing thus far because SNPs account for a small fraction of the genetic risk for disease. We hypothesize that rare genetic variants giving rise to functional mutations may account for susceptibility to certain rheumatic illnesses. Moreover, we propose a strategy to further accelerate decreases in costs of exome sequencing by establishing a high throughput platform to enrich analysis of immune related genes. These sequences will then be analyzed for potential disease causing mutations by computational approaches.

尽管进行了广泛的大群体分析，但迄今为止，对具有单核苷酸多态(SNPs)的疾病的全基因组关联研究一直令人失望，因为SNPs只占疾病遗传风险的一小部分。我们假设，导致功能突变的罕见基因变异可能是某些风湿病的易感性原因。此外，我们还提出了一种策略，通过建立一个高通量的平台来丰富免疫相关基因的分析，从而进一步加快外显子组测序成本的降低。然后将通过计算方法分析这些序列是否有可能导致疾病的突变。