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Chunk #23 — Results — Enrichment of brain cisSNPs in the AD GWAS from ADGC

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
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MAPT and LRRC37A4 cisSNPs, implicated in PSP [27] and PD [32] GWAS and which significantly influenced brain levels of these genes also had suggestive AD risk associations (pmeta = 8.82×10−4–1.53×10−5). CisSNP alleles associating with lower brain MAPT levels were associated with lower AD risk, similar to PD [32] and PSP [27] GWAS, which may suggest a common mechanism for these neurodegenerative diseases. ABCA7, identified recently as a novel LOAD risk locus [28], [47], had significant cerebellar cisSNPs. Further investigations of the other genes with evidence of brain transcript and AD risk association is warranted to understand their role in AD (Text S1).