作者
Samantha L Strickland, Joseph S Reddy, Mariet Allen, Aurelie N'songo, Jeremy D Burgess, Morgane M Corda, Travis Ballard, Xue Wang, Minerva M Carrasquillo, Joanna M Biernacka, Gregory D Jenkins, Shubhabrata Mukherjee, Kevin Boehme, Paul Crane, John S Kauwe, Nilüfer Ertekin‐Taner, Alzheimer's Disease Genetics Consortium
发表日期
2020/7
期刊
Alzheimer's & Dementia
卷号
16
期号
7
页码范围
983-1002
简介
Introduction
MAPT H1 haplotype is implicated as a risk factor for neurodegenerative diseases including Alzheimer's disease (AD).
Methods
Using Alzheimer's Disease Genetics Consortium (ADGC) genome‐wide association study (GWAS) data (n = 18,841), we conducted a MAPT H1/H2 haplotype–stratified association to discover MAPT haplotype–specific AD risk loci.
Results
We identified 11 loci—5 in H2‐non‐carriers and 6 in H2‐carriers—although none of the MAPT haplotype–specific associations achieved genome‐wide significance. The most significant H2 non‐carrier–specific association was with a NECTIN2 intronic (P = 1.33E‐07) variant, and that for H2 carriers was near NKX6‐1 (P = 1.99E‐06). The GABRG2 locus had the strongest epistasis with MAPT H1/H2 variant rs8070723 (P = 3.91E‐06). Eight of the 12 genes at these loci had transcriptome‐wide significant differential expression in AD versus …
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SL Strickland, JS Reddy, M Allen, A N'songo… - Alzheimer's & Dementia, 2020