2012 Fiscal Year Final Research Report
International collaborative research on the etiology for intractable kidney disease children in East Asia
| Project/Area Number |
22406027
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 海外学術 |
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| Research Field |
Pediatrics
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| Research Institution | Kansai Medical University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2012
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| Keywords | 腎不全 / 疾患遺伝子 / ネフローゼ / ポドサイト / シークエンス |
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| Research Abstract |
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
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Research Products
(13 results)
