FCGR3基因拷贝数变异与IgA肾病发生发展的关联研究及机制探讨

IgA肾病是全球最常见的原发性肾小球疾病，是终末期肾脏病的重要病因，遗传及免疫因素在其发生发展中起着至关重要的作用。FCGR3基因具有复杂的拷贝数变异，且在调控免疫细胞反应以及免疫复合物清除方面发挥重要作用。本研究拟在中国大样本IgA肾病队列中精确测量FCGR3基因拷贝数变异，探讨FCGR3基因拷贝数变异与IgA肾病易感性及临床表型的关联，明确FCGR3基因拷贝数变异对其基因表达的影响，为阐明IgA肾病的发病机制及寻找IgA肾病的药物干预靶点提供理论依据。

IgA nephropathy is the most common primary glomerulonephritis worldwide and the major cause of end-stage renal disease. Genetic and immunologic factors play important roles in the development of IgA nephropathy. FCGR3 gene, presenting with complex copy number variations, has important functions in the regulation of immune cell responses and critical for immune complexes clearance. This study is designed to accurately measure the copy number variations of FCGR3 gene in large Chinese IgA nephropathy cohort, to explore the association effect of FCGR3 gene copy number variations in the susceptibility and clinical phenotypes of IgA nephropathy, to exhibit the effect of FCGR3 gene copy number variations on the expression of the gene, to provide theoretical evidence for clarifying pathogenesis of IgA nephropathy and exploring target for drug intervention in IgA nephropathy.