Genetic susceptibility to febrile seizures : case-control association studies
| Project/Area Number |
18591157
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kyushu University |
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Principal Investigator |
KIRA Ryutaro Kyushu University, Hospital, Research Associate (70304805)
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| Co-Investigator(Kenkyū-buntansha) |
TORISU Hiroyuki KYUSHU UNIVERSITY, Kyushu University Hospital, Research Associate (10398076)
ARINAMI Tadao University of Tsukuba, Graduate School of Comprehensive Human Sciences, Professor (10212648)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥4,010,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥510,000)
Fiscal Year 2007: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2006: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Keywords | febrile seizures / gene / polymorphism / cytokine / interleukin / association study / 脳炎 / UNC93B1 / Toll-like receptor / innate immunity / マウス |
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| Research Abstract |
A genetic predisposition to febrile seizures (FS) has long been recognized. The inheritance appears to be polygenic in small families or sporadic cases of FS encountered in daily clinical practice. To determine whether candidate genes are responsible for the susceptibility to FS, we have performed genetic association studies in FS patients and controls.
The single-nucleotide polymorphisms (SNPs) of genes involved in immune response (interleukin (IL) 1B), endocannabinoid signaling (CNR1), acid-base balance (SLC 4A3, SLC9A1, SLC9A3), gap junction channel (CX43), and GABAA receptor trafficking (PRIP1) were examined in 249 FS patients (186 simple and 63 complex FS) and 225 controls.
There were no significant differences in the allele frequencies of the SNPs between controls and all FS, simple FS, and complex FS patients. When the simple FS patients were divided into two groups according to either having (familial) or not having a family history of FS in near relatives (sporadic), there was a significant association between IL1B-592 SNP and sporadic simple FS (p=0.003).
These data suggest that cytokine genes may act as enhancers or attenuators of simple FS susceptibility. Genetic association study may be an effective approach to understanding the molecular basis of FS at least in a subgroup of patients.
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Report
(3 results)
Research Products
(28 results)
