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O1‐03‐01: Integrative Analysis of Gwas Summary Data and Functional Annotations Highlights Signal Enrichment in Immune‐Related DNA Elements for Late‐Onset Alzheimer’s Disease
Author(s) -
Lu Qiongshi,
Mukherjee Shubhabrata,
Crane Paul K.,
Zhao Hongyu
Publication year - 2016
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.2016.06.304
Subject(s) - genome wide association study , epigenomics , heritability , computational biology , biology , genomics , genome , genetic association , functional genomics , genetics , bioinformatics , dna methylation , gene , single nucleotide polymorphism , genotype , gene expression
Background:Despite the success of late-onset Alzheimer’s disease (LOAD) genome-wide association studies (GWAS), our understanding of its genetic architecture and disease etiology is still far from complete. Recent advancements in integrative genomic functional annotations, coupled with statistical techniques to partition heritability by these annotations, have provided insights to human complex diseases. Here we apply state-of-the-art methods to identify tissueand cell type-specific functional DNA elements enriched for LOAD GWAS signals. Methods:We analyzed Stage I genome-wide meta-analysis Figure 1. Enrichment results for seven tissue types. The grey line marks the p-value cutoff 0.05. Figure 2. Enrichment results for 23 immune cells. Details of each cell are listed in Table 1. The grey line marks the p-value cutoff 0.05.