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P2‐147: POLYGENIC COMPOSITE SCORES IN ALZHEIMER'S DISEASE: A SYSTEMATIC REVIEW
Author(s) -
Chasioti Danai,
Yan Jingwen,
Nho Kwangsik,
Saykin Andrew J.
Publication year - 2019
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2019.06.2554
Subject(s) - disease , polygenic risk score , genome wide association study , genetic association , sample size determination , snp , selection (genetic algorithm) , population , medicine , bioinformatics , biology , single nucleotide polymorphism , genotype , computer science , genetics , machine learning , statistics , gene , mathematics , environmental health
hypothesis-driven search for protective variants in APOE4+ (n1⁄46) and causal variants in APOE4(n1⁄48) groups. Four SNPs displayed significant associations with CSF-Tau/Aß ratios, of which three in the APOE4+ groups were concordant with the hypothesis (Fig.3-5): rs13133064, near GUF1 and GNPDA2, rs675080, on an intron of NTM, and rs9598666, near NFYAP1 and LINC00355. These SNPs did not affect brain cis gene expression. Conclusions: Stratification of subjects into ethnic groups, at the sub-European ancestral level, may help elucidate the APOE4-specific genetic architecture in LOAD. Replication in another large LOAD dataset and additional functional validation is required to confirm the putative protective loci identified here.