Abstract
Little is known about genetic risk factors for idiopathic normal pressure hydrocephalus (iNPH). We examined whether a copy number loss in intron 2 of the SFMBT1 gene could be a genetic risk for shunt-responsive, definite iNPH. Quantitative and digital PCR analyses revealed that 26.0% of shunt-responsive definite iNPH patients (n = 50) had such a genetic change, as compared with 4.2% of the healthy elderly (n = 191) (OR = 7.94, 95%CI: 2.82-23.79, p = 1.8 x 10-5) and 6.3% of patients with Parkinson's disease (n = 32) (OR = 5.18, 95%CI: 1.1-50.8, p = 0.038). The present study demonstrates that a copy number loss within intron 2 of the SFMBT1 gene may be a genetic risk factor for shunt-responsive definite iNPH.
MeSH terms
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Aged
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Aged, 80 and over
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Case-Control Studies
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Cerebrospinal Fluid Shunts
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DNA Copy Number Variations*
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Female
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Genetic Association Studies*
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Genetic Predisposition to Disease*
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Humans
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Hydrocephalus, Normal Pressure / diagnosis
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Hydrocephalus, Normal Pressure / genetics*
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Hydrocephalus, Normal Pressure / surgery
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Introns
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Male
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Odds Ratio
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Repressor Proteins / genetics*
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Sequence Deletion*
Substances
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Repressor Proteins
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SFMBT1 protein, human
Grants and funding
This work was supported by the Research committee of idiopathic normal pressure hydrocephalus, studies on the etiology, diagnosis and therapy, supported by the Ministry of Health, Lobor and Welfare of Japan (2014-Nanchi-General-052). The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.