2016 Fiscal Year Final Research Report
Epidemiology and pathology of lipoprotein glomerulopathy
Project/Area Number |
25461616
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Yamagata University |
Principal Investigator |
|
Project Period (FY) |
2013-04-01 – 2017-03-31
|
Keywords | リポ蛋白糸球体症 / ApoE-Sendai / 創始者効果 |
Outline of Final Research Achievements |
We determined the haplotype structure of APOE-Sendai in 13 patients from 9 unrelated families with LPG, and found that the haplotype of all APOE-Sendai mutations was identical, suggesting that APOE-Sendai mutation is common in Japanese patients probably through a founder effect. We also studied the gene frequency of APOE-Sendai in 2023 control subjects and 418 patients receiving hemodialysis in Yamagata prefecture using the TaqMan method, but did not identify any subjects carrying the mutation, indicating that it is very rare in the general population even in the eastern part of Japan. We examined 21 SNPs reported to be associated with triglyceride metabolism in 13 patients from 9 unrelated families with LPG, but SNPs common to onset were not detected. The second factor of LPG did not turn out.
|
Free Research Field |
小児腎臓疾患
|