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rs12053868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 2 possibly faster amyloid accumulation in older (70+) adults
(G;G) 2 possibly faster amyloid accumulation in older (70+) adults
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position190582215
GeneIL1RAP
is asnp
is mentioned by
dbSNPrs12053868
ebirs12053868
HLIrs12053868
Exacrs12053868
Varsomers12053868
Maprs12053868
PheGenIrs12053868
hapmaprs12053868
1000 genomesrs12053868
hgdprs12053868
ensemblrs12053868
gopubmedrs12053868
geneviewrs12053868
scholarrs12053868
googlers12053868
pharmgkbrs12053868
gwascentralrs12053868
openSNPrs12053868
23andMers12053868
23andMe allrs12053868
SNP Nexus

SNPshotrs12053868
SNPdbers12053868
MSV3drs12053868
GWAS Ctlgrs12053868
Max Magnitude2
? (A;A) (A;G) (G;G) 28
Carriers of the G allele of rs12053868 accumulated more amyloid as measured by PET scanning and were associated with accelerated cognitive decline in a GWAS of older adults (70+ years of age) compared to non-carriers. This result was confirmed in independent cohorts.[PMID 26268530]

Additional findings included:

  • No significant interactions were identified between rs12053868 and APOE ε4 status, baseline diagnosis, or age or gender;
  • The association of rs12053868 was genome-wide significant under both additive (P = 1.38 × 10−9) and dominant (P = 5.26 × 10−9) genetic models;
  • Controlling for age, gender, and TSPO rs6971 genotype, rs12053868(G) was associated with lower cortical microglial activation (P = 0.031);
  • Using structural MRI in a subset of the GWAS sample (n = 358), rs12053868(G) carriers exhibited greater declines in temporal cortex thickness compared to non-carriers (P = 0.035). This effect remained significant - but just barely - (P = 0.042) after the inclusion of diagnosis as an independent predictor variable.
  • Of 269 GWAS participants diagnosed with MCI at baseline who had diagnosis information at 2-year follow-up (incl. 42 who progressed to Alzheimer's Disease and 227 who did not), rs12053868(G) carriers were more likely to convert to Alzheimer’s disease within the follow-up period than non-carriers (P = 0.025, odds ratio 2.32, CI:1.11–4.87);
  • A meta-analysis of 579 participants from three independent cohorts showed that rs12053868(G) was associated with faster 2-year decline in verbal episodic memory performance (P = 7.72 × 10−4), with each copy of the G allele adding approximately one-quarter of a standard deviation to the rate of decline.