International collaborative research on the etiology for intractable kidney disease children in East Asia

类固醇抵抗性肾病综合征（SRNS）是儿童终末期肾病的主要原因。迄今为止已报道了10多种SRNS疾病基因。然而，在基因的流行程度上存在相当大的种族差异。特别是，亚洲儿童早期发病的SRNS的分子基础在很大程度上仍然未知。本研究的目的是通过国际合作确定亚洲人高度特异性的疾病基因。对16个亚洲SRNS家族隐性遗传的连锁图谱显示了多个HLOD评分为>3.0的候选位点，提示可能涉及多个基因而不是单个主基因。在4个常染色体显性SRNS家族中，我们发现了INF2突变，据报道，该突变占白种人和非裔美国人显性SRNS的10- 20%。目前正在进行全外显子组分析，以澄清其他家族中尚未确定基因的基因

Steroid-resistant nephrotic syndrome (SRNS) is a major cause of end-stage renal disease in children. More than 10 SRNS disease genes have been reported to date. However, there is a considerable ethnic difference in the prevalence of the genes. In particular, the molecular basis of early childhood onset SRNS in Asian is still largely unknown. The aim of this study was to identify the disease genes highly specific to Asians through international collaboration. The linkage mapping 16 Asian SRNS families of recessive inheritance revealed several candidate loci with HLOD scores>3.0, suggesting that multiple genes rather than a single major gene may be involved. In 4 autosomal-dominant types of SRNS families, we found INF2 mutations, which are reported to account for 10- 20 % of dominant SRNS in Caucasians and African Americans. Whole exome analysis is now being on progress to clarify the genes in other families in which genes are yet to be determined