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KMID : 1034820210170030233
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Molecular & Cellular Toxicology
2021 Volume.17 No. 3 p.233 ~ p.244
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Importance of GWAS in finding un-targeted genetic association of sporadic Alzheimer’s disease
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Bagaria Jaya
Nho Kwang-Sik
An Seong-Soo A.
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Abstract
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Background: Patients with sporadic Alzheimer’s do not possess an identified causative variant and hold an estimated heritability of 92?100%. Majority of disease causing, or protective mutations were uncommon in a generic group of the population, whereas dominant variants were well identified. Development of next-generation sequencing along with genome-wide association studies allowed to accurately identify the lesser-known disease-causing variants essential for the early detection of AD in sporadic patients to provide genetic counsel and prophylactic treatment.
Objective: The objective of the review is to bring the focus to the potentiality of large-scale GWAS (Genome-Wide Association Studies) analysis for the detection of novel genes for the sporadic Alzheimer’s disease.
Results: Identification of infrequently studied genes like LILRB2, LIPC, ITGAX, HLA-A, CASP8, ABCA7, ADAM10, BIN1, CD33, CLU, EPHA1, GAB2, PICALM, TREM2, SORL1, MAPT, HLA for the sporadic AD, that interact with predominant AD genes and engages in pathways mediating disease progression.
Conclusion: A multi-population large-scale un-targeted whole-genome GWAS or WES (whole exome sequencing) analysis is needed to identify several genes and variants besides the predominantly studied APOE for the sporadic case of Alzheimer’s.
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KEYWORD
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Alzheimer’s disease, Sporadic early onset Alzheimer’s disease, GWAS, GATK, NGS, Bioinformatics
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