Have questions? Visit https://www.reddit.com/r/SNPedia

rs12752888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1 Faster progression of mild cognitive impairment to Alzheimer’s disease.
(C;T) 1 Normal progression to Alzheimer’s disease from mild cognitive impairment.
(T;T) 1 Normal progression to Alzheimer’s disease from mild cognitive impairment.
ReferenceGRCh38 38.1/142
Chromosome1
Position54527266
is asnp
is mentioned by
dbSNPrs12752888
ebirs12752888
HLIrs12752888
Exacrs12752888
Varsomers12752888
Maprs12752888
PheGenIrs12752888
hapmaprs12752888
1000 genomesrs12752888
hgdprs12752888
ensemblrs12752888
gopubmedrs12752888
geneviewrs12752888
scholarrs12752888
googlers12752888
pharmgkbrs12752888
gwascentralrs12752888
openSNPrs12752888
23andMers12752888
23andMe allrs12752888
SNP Nexus

SNPshotrs12752888
SNPdbers12752888
MSV3drs12752888
GWAS Ctlgrs12752888
Max Magnitude1
? (C;C) (C;T) (T;T) 28
rs12752888 is a SNP on chromosome 1 upstream of the gene ACOT11. ACOT11 has been associated with obesity and is a member of a family of enzymes that help catalyze the de-esterification of fatty acids.

One study used genotyping information from 489 patients with mild cognitive impairment (MCI) from the Vitamin E trial. The GWAS employed used Alzheimer’s disease progression measured quantitatively from Clinical Dementia Rating-sum of boxes (CRD-SB) scores over time. Additionally, the study utilized information about 200 Alzheimer’s disease patients, 300 MCI patients, and 200 controls from the Alzheimer's Disease Neuroimaging Initiative (ADNI) consortium. Significance was assessed based on the interaction term between genotype and time in a Cox proportional hazards model. rs12752888 was among two SNPs in the GWAS study to reach genome-wide significance in the Vitamin E MCL trial with a false-positive rate of 0.05 adjusting for 1 million SNPs (p < 8.31 × 10^−9 ). Combining both datasets, rs12752888 reached significance of p = 3.08 x 10^-11. Overall with a hazard rate of 1.78, this suggests that the homozygous recessive genotype contributes to a faster rate of cognitive decline in mild cognitive impaired individuals in their progression to Alzheimer’s disease. [PMID 3309471]