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P3‐099: A KNOWN PSEN1 E184G MUTATION IN AN EOAD PATIENT FROM THAILAND
Author(s) -
Van Vo Giau,
Bagyinszky Eva,
Senanarong Vorapun,
Limwongse Chanin,
An Seong Soo,
Kim SangYun
Publication year - 2018
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.2018.06.1455
Subject(s) - psen1 , rna splicing , genetics , gene , mutation , presenilin , biology , dementia , alternative splicing , medicine , neuroscience , bioinformatics , exon , disease , alzheimer's disease , pathology , rna
shows low diversity is a risk factor for YOAD (Figure 2B, Chisquare test p1⁄40.04). After adjusting for APOE genotypes and gender, high SH (i.e. low heterozygosity) remained a significant risk factor for YOAD (p-value 1⁄4 0.04, O.R.1⁄4 5.1 for every 1% increase of SH). Two pathways with FDR < 0.1 were the Heterotrimeric G-protein signaling pathway (p-value1⁄40.0017) and the Notch signaling pathway (p-value1⁄4 0.0038), but genetic diversity of these two classical AD pathways was not associated with age of onset (p-value1⁄40.33 and 0.70, respectively). Conclusions: Lower genomic diversity (reduced heterozygosity) was associated with enhanced risk for nonfamilial YOAD.