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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/s00106-011-2359-z

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1435-232X

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Dynamin 2 gene is a novel susceptibility gene for

Authors: Nuripa Jenishbekovna Aidaralieva Kouzin Kamino Ryo Kimura Mitsuko Yamamoto Takeshi Morihara Hiroaki Kazui Ryota Hashimoto Toshihisa Tanaka Takashi Kudo Tomoyuki Kida JunIchiro Okuda Takeshi Uema Hidehisa Yamagata Tetsuro Miki Hiroyasu Akatsu Kenji Kosaka Masatoshi Takeda
Publish Date: 2008/04
Volume: 53, Issue: 4, Pages: 296-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptAlzheimer disease AD is characterized by progressive cognitive decline caused by synaptic dysfunction and neurodegeneration in the brain and lateonset AD LOAD genetically classified as a polygenetic disease is the major form of dementia in the elderly It has been shown that β amyloid deposited in the AD brain interacts with dynamin 1 and that the dynamin 2 DNM2 gene homologous to the dynamin 1 gene is encoded at chromosome 19p132 where a susceptibility locus has been detected by linkage analysis To test the genetic association of LOAD with the DNM2 gene we performed a case–control study of 429 patients with LOAD and 438 sex and agematched control subjects in a Japanese population We found a significant association of LOAD with single nucleotide polymorphism markers of the DNM2 gene especially in noncarriers of the apolipoprotein Eε4 allele Even though subjects with the genotype homozygous for the risk allele at rs892086 showed no mutation in exons of the DNM2 gene expression of DNM2 mRNA in the hippocampus was decreased in the patients compared to nondemented controls We propose that the DNM2 gene is a novel susceptibility gene for LOAD

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