SNPs in LD with rs1476679 produce eQTL with PILRB in control brains (GSE15745)
eQTLs of IGAP GWAS SNPs in control brains (UKBEC).
SNPs in LD with rs1476679 produce eQTL with PILRB in control brains (GSE15745).
Expression of IGAP GWAS loci is associated with disease status in GSE5281.
Correlation between expression of genes within the CELF1 locus is lost in AD brains.
Expression of MTCH2, NDUFS3, PTPMT1, PSMC3, and NUP160 are highly correlated in laser micro-dissected neurons. Correlation is lost in AD brains. Gene expression in all brain samples (A, D, G, J, M, P, S). Control only (B, E, H, K, N, Q, T). AD only (C, F, I, L, O, R, U).
APOEε4 is the strongest genetic risk factor for LOAD: carrying one copy of APOEε4 increases AD risk by 3 fold and carrying two copies of APOEε4 increases AD risk by 8–10 fold. However, only 50% of LOAD cases carry an APOEε4 allele, suggesting that other genetic factors contribute to risk for LOAD.
These significant eQTLs and expression differences in LOAD brains were observed in genes that occur within the IGAP GWAS loci but not the named IGAP GWAS gene. Together, our findings demonstrate that several LOAD risk variants modify expression of nearby genes and may contribute to LOAD risk.
A recent IGAP GWAS in 74,046 individuals revealed 21 loci that are significantly associated with altered AD risk, 12 of which are novel: ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, EPHA1, FERMT2, HLA-DRB5/DRB1, INPP5D, MEF2C, MS4A6A, NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1.
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