| Geno
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Mag
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Summary
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| (C;C)
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|
normal risk
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| (C;G)
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normal risk
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| (G;G)
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2
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2x increased ALZ risk in ApoE4 carriers
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rs638405, a SNP also known as Val262, is located in exon 5 of the BACE1 gene, and is associated in some studies (but not others) with increased risk for late-onset Alzheimer's disease. The only statistically robust associations with increased risk for Alzheimer's disease appear to be seen in individuals who are also ApoE4 carriers.
For example, a meta-analysis pooling 4 Chinese and 1 Korean study found a significant association between the (G;G) - in orientation to dbSNP, not as published - genotype and Alzheimer's disease in ApoE4+ groups with an odds ratio of 1.99 (CI: 1.319-3.018, p=0.0044).[PMID 18182766]
[PMID 16251468
] Survey of allelic expression using EST mining.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 23341828] Association of BACE1 Gene Polymorphism with Cerebellar Volume but Not Cognitive Function in Normal Individuals
[PMID 26828303] Meta-Analysis of BACE1 Gene rs638405 Polymorphism and the risk of Alzheimer's Disease in Caucasion and Asian population.
[PMID 26846559] Relationship between the polymorphism in exon 5 of BACE1 gene and Alzheimer's disease.
[PMID 29595667] Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.
] Survey of allelic expression using EST mining.
