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

• Published in: Genes & genomics Vol. 39; no. 6; pp. 593 - 600
• Main Authors: Kim, Dong Hee, Gim, Jeong-An, Mishra, Anshuman, Lee, Kyeongjun, Cho, Youngseuk, Kim, Heui-Soo
• Format: Journal Article
• Language: English
• Published: Seoul The Genetics Society of Korea 01.06.2017; Springer Nature B.V; 한국유전학회
• Subjects: Animal Genetics and Genomics; Apolipoprotein E; Bile; Biomedical and Life Sciences; Cholesterol; Dementia disorders; Genetic diversity; Genome-wide association studies; Genomes; Homeostasis; Human Genetics; Life Sciences; Lipid metabolism; Metabolism; Microbial Genetics and Genomics; Plant Genetics and Genomics; Polymorphism; Research Article; Single-nucleotide polymorphism; 생물학; Multi-locus genotype patterns; Single-nucleotide polymorphism; Aβ metabolism; Cholesterol homeostasis; Late-onset Alzheimer’s disease
• ISSN: 1976-9571; 2092-9293
• DOI: 10.1007/s13258-017-0524-9

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.