A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy

作者：Malik Talat H; Lavin Peter J; de Jorge Elena Goicoechea; Vernon Katherine A; Rose Kirsten L; Patel Mitali P; de Leeuw Marcel; Neary John J; Conlon Peter J; Winn Michelle P; Pickering Matthew C^*

来源：Journal of the American Society of Nephrology, 2012, 23(7): 1155-1160.

DOI：10.1681/ASN.2012020166

Controlled activation of the complement system, a key component of innate immunity, enables destruction of pathogens with minimal damage to host tissue. Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules. Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy. Here, we report an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3-1 gene. In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.

• 出版日期2012-7