Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: A case-control study

presenilin-2 is one of the causative genes for familial Alzheimer's disease, and the apolipoprotein E ε4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer's disease. Polymorphism of the regulatory region of presenilin-2 has recently been reported to be...

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Veröffentlicht in:Journal of the neurological sciences 2006-01, Vol.240 (1), p.71-75
Hauptverfasser: Quan, Wenxiang, Yasuda, Minoru, Hashimoto, Mamoru, Yamamoto, Yasuji, Ishii, Kazunari, Kazui, Hiroaki, Mori, Etsuro, Kakigi, Tatsuya, Maeda, Kiyoshi
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container_issue 1
container_start_page 71
container_title Journal of the neurological sciences
container_volume 240
creator Quan, Wenxiang
Yasuda, Minoru
Hashimoto, Mamoru
Yamamoto, Yasuji
Ishii, Kazunari
Kazui, Hiroaki
Mori, Etsuro
Kakigi, Tatsuya
Maeda, Kiyoshi
description presenilin-2 is one of the causative genes for familial Alzheimer's disease, and the apolipoprotein E ε4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer's disease. Polymorphism of the regulatory region of presenilin-2 has recently been reported to be associated with sporadic Alzheimer's disease in a Russian population. The purpose of this study was to determine whether Alzheimer's disease is associated with the presenilin-2 gene polymorphism and the apolipoprotein E genotype in an extended case-control study. We examined 230 patients with Alzheimer's disease, along with an equal number of age- and sex-matched controls from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis. The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer's disease patients (0.17) and younger controls (0.15), and in late-onset Alzheimer's disease (0.20) and elderly controls (0.20). We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E ε4 allele. Our results fail to support an association of presenilin-2 gene polymorphism with Alzheimer's disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.
doi_str_mv 10.1016/j.jns.2005.09.004
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Polymorphism of the regulatory region of presenilin-2 has recently been reported to be associated with sporadic Alzheimer's disease in a Russian population. The purpose of this study was to determine whether Alzheimer's disease is associated with the presenilin-2 gene polymorphism and the apolipoprotein E genotype in an extended case-control study. We examined 230 patients with Alzheimer's disease, along with an equal number of age- and sex-matched controls from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis. The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer's disease patients (0.17) and younger controls (0.15), and in late-onset Alzheimer's disease (0.20) and elderly controls (0.20). We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E ε4 allele. 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Prion diseases ; DNA Mutational Analysis - methods ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Medical sciences ; Membrane Proteins - genetics ; Middle Aged ; Neurology ; Odds Ratio ; Polymorphism ; Polymorphism, Genetic ; Presenilin-2 ; Regulatory region ; Regulatory Sequences, Nucleic Acid - genetics ; Retrospective Studies ; Tumors of the nervous system. 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Prion diseases</subject><subject>DNA Mutational Analysis - methods</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Odds Ratio</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Presenilin-2</subject><subject>Regulatory region</subject><subject>Regulatory Sequences, Nucleic Acid - genetics</subject><subject>Retrospective Studies</subject><subject>Tumors of the nervous system. 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Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Quan, Wenxiang</creatorcontrib><creatorcontrib>Yasuda, Minoru</creatorcontrib><creatorcontrib>Hashimoto, Mamoru</creatorcontrib><creatorcontrib>Yamamoto, Yasuji</creatorcontrib><creatorcontrib>Ishii, Kazunari</creatorcontrib><creatorcontrib>Kazui, Hiroaki</creatorcontrib><creatorcontrib>Mori, Etsuro</creatorcontrib><creatorcontrib>Kakigi, Tatsuya</creatorcontrib><creatorcontrib>Maeda, Kiyoshi</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Quan, Wenxiang</au><au>Yasuda, Minoru</au><au>Hashimoto, Mamoru</au><au>Yamamoto, Yasuji</au><au>Ishii, Kazunari</au><au>Kazui, Hiroaki</au><au>Mori, Etsuro</au><au>Kakigi, Tatsuya</au><au>Maeda, Kiyoshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: A case-control study</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>2006-01-15</date><risdate>2006</risdate><volume>240</volume><issue>1</issue><spage>71</spage><epage>75</epage><pages>71-75</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>presenilin-2 is one of the causative genes for familial Alzheimer's disease, and the apolipoprotein E ε4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer's disease. Polymorphism of the regulatory region of presenilin-2 has recently been reported to be associated with sporadic Alzheimer's disease in a Russian population. The purpose of this study was to determine whether Alzheimer's disease is associated with the presenilin-2 gene polymorphism and the apolipoprotein E genotype in an extended case-control study. We examined 230 patients with Alzheimer's disease, along with an equal number of age- and sex-matched controls from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis. The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer's disease patients (0.17) and younger controls (0.15), and in late-onset Alzheimer's disease (0.20) and elderly controls (0.20). We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E ε4 allele. Our results fail to support an association of presenilin-2 gene polymorphism with Alzheimer's disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>16233903</pmid><doi>10.1016/j.jns.2005.09.004</doi><tpages>5</tpages></addata></record>
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source MEDLINE; ScienceDirect Journals (5 years ago - present)
subjects Adult
Age Factors
Aged
Aged, 80 and over
Alzheimer Disease - genetics
Alzheimer's disease
Apolipoprotein E4
Apolipoproteins E - genetics
Biological and medical sciences
Case-Control Studies
Case-control study
Chi-Square Distribution
Confidence Intervals
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis - methods
Female
Gene Frequency
Genotype
Humans
Male
Medical sciences
Membrane Proteins - genetics
Middle Aged
Neurology
Odds Ratio
Polymorphism
Polymorphism, Genetic
Presenilin-2
Regulatory region
Regulatory Sequences, Nucleic Acid - genetics
Retrospective Studies
Tumors of the nervous system. Phacomatoses
title Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: A case-control study
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