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rs72824905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 Moderate decrease (~0.6x) in risk for Alzheimer's disease as well as FTD and DLB
(G;G) 3 Moderate decrease (~0.6x) in risk for Alzheimer's disease as well as FTD and DLB
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position81908423
GenePLCG2
is asnp
is mentioned by
dbSNPrs72824905
dbSNP (classic)rs72824905
ClinGenrs72824905
ebirs72824905
HLIrs72824905
Exacrs72824905
Gnomadrs72824905
Varsomers72824905
LitVarrs72824905
Maprs72824905
PheGenIrs72824905
Biobankrs72824905
1000 genomesrs72824905
hgdprs72824905
ensemblrs72824905
geneviewrs72824905
scholarrs72824905
googlers72824905
pharmgkbrs72824905
gwascentralrs72824905
openSNPrs72824905
23andMers72824905
SNPshotrs72824905
SNPdbers72824905
MSV3drs72824905
GWAS Ctlgrs72824905
Max Magnitude3

The minor allele of this variant, rs72824905 (p.Pro522Arg), found in the PLCG2 gene, is reported to somewhat reduce risk for Alzheimer's disease (OR 0.68, p = 5.38 × 10e-10). This protein is highly expressed in microglia and demonstrates immune interactions associated with AD.[PMID 28714976OA-icon.png]

In a 2019 study including 4,985 patients with Alzheimer's (AD), 2,437 with frontotemporal demential (FTD), and 1,446 with dementia with Lewy bodies (DLB), the rs72824905-G allele was also found to reduce risk (by about half) not only for AD but also for FTD and DLB. Perhaps for this reason (or some related reason?) rs72824905-G carriers were also more likely to live to age 90, and there was even greater prevalence of the allele among centenarians. An AlzForum post about this finding is here.[PMID 31131421OA-icon.png]