Key variants via Alzheimer’s Disease Sequencing Project whole genome sequence data

Author:

Wang Yanbing,Sarnowski ChloéORCID,Lin HonghuangORCID,Pitsillides Achilleas NORCID,Heard-Costa Nancy L,Choi Seung Hoan,Wang Dongyu,Bis Joshua C,Blue Elizabeth E,Boerwinkle Eric,De Jager Philip LORCID,Fornage MyriamORCID,Wijsman Ellen M,Seshadri SudhaORCID,Dupuis JoséeORCID,Peloso Gina MORCID,DeStefano Anita LORCID, ,

Abstract

AbstractINTRODUCTIONGenome-wide association studies (GWAS) have identified loci associated with Alzheimer’s disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci.METHODSWe performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases=2,184, N controls=2,383) and targeted analyses in sub-populations using WGS data from the Alzheimer’s Disease Sequencing Project (ADSP). The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants.RESULTSSeventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses.DISCUSSIONThis study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.

Publisher

Cold Spring Harbor Laboratory

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Population Neuroscience: Principles and Advances;Current Topics in Behavioral Neurosciences;2024

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