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SNP analysis of genes related to cholesterol metabolism and associated with late-onset Alzheimer’s disease

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Abstract

Late onset Alzheimer’s disease (LOAD) is the most common type of dementia and is characterized by impaired cholesterol homeostasis. Genome-wide association studies (GWAS) have shown that APOE, TOMM40, CLU, SORL1, PICALM, and BIN1 are related to cholesterol metabolism. To characterize the association between single-nucleotide polymorphisms (SNPs) and LOAD, we sequenced the SNP regions of the identified genes in a total of 11 LOAD cases and 12 healthy case controls in the Korean population. The SNP data showed a relatively high frequency in LOAD samples compared to the control samples. LOAD samples showed an average of 2.9 SNPs, whereas normal controls showed an average of 1.5 SNPs in the genes. Taken together, six genes associated with cholesterol metabolism using SNP analysis have shown frequent genetic variations in LOAD.

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    Authors and Affiliations

    1. Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, 46241, South Korea

      Dong Hee Kim, Jeong-An Gim & Heui-Soo Kim

    2. Department of Psychiatry, Hyungju Hospital, Yangsan, 50509, South Korea

      Dong Hee Kim

    3. Genetic Engineering Institute, Pusan National University, Busan, 46241, South Korea

      Jeong-An Gim, Anshuman Mishra & Heui-Soo Kim

    4. Department of Statistics, College of Natural Sciences, Pusan National University, Busan, 46241, South Korea

      Kyeongjun Lee & Youngseuk Cho

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    1. Dong Hee Kim
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    Correspondence to Heui-Soo Kim.

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    DHK that he has no conflict of interest. J-AG that he has no conflict of interest. AM that he has no conflict of interest. KL that he has no conflict of interest. YC that he has no conflict of interest. H-SK that he has no conflict of interest.

    Ethical approval

    This study was performed in accordance with South Korean laws and the guidelines of the Ethics Committee at the Woosan Medical Foundation.

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    Dong Hee Kim, Jeong-An Gim and Anshuman Mishra have contributed equally to this work.

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    Kim, D.H., Gim, JA., Mishra, A. et al. SNP analysis of genes related to cholesterol metabolism and associated with late-onset Alzheimer’s disease. Genes Genom 39, 593–600 (2017). https://doi.org/10.1007/s13258-017-0524-9

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    • DOI: https://doi.org/10.1007/s13258-017-0524-9

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