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

激素抵抗型肾病综合征(SRNS)是儿童终末期肾病的主要原因。到目前为止，已经报道了10多个SRNS疾病基因。然而，这些基因的流行率存在相当大的种族差异。特别是，亚洲儿童早期SRNS的分子基础仍然很大程度上是未知的。这项研究的目的是通过国际合作确定亚洲人高度特异的疾病基因。对16个隐性遗传的亚洲SRNS家系进行了连锁定位，发现了多个HLOD评分为3.0的候选基因座，提示可能是多基因作用，而不是单个主效基因作用。在4个常染色体显性的SRNS家系中，我们发现了INF2突变，据报道，在高加索人和非裔美国人中，INF2突变占显性SRN的10%-20%。整个外显子组分析目前正在进行中，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