Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr19:44905086_44905089 CTTT>-
Position: (GRCh37/hg19):Chr19:45408343_45408346 CTTT>-
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs538385866
Coding/Non-Coding: Non-Coding
DNA Change: Deletion
Reference Isoform: APOE Isoform 1
Genomic Region: 2kb upstream

Findings

This deletion mutation located upstream of the APOE transcription start site was reported in a study in which the APOE genes of 257 Southern Chinese individuals, including 69 AD patients, 83 subjects with mild cognitive impairment (MCI), and 105 cognitively healthy controls, were sequenced (Yee et al., 2021). The variant was found in one AD patient (0.7%) and one control (0.5%).

In the gnomAD variant database, the variant was reported at a global frequency of 0.00023, with all seven reported carriers being of East Asian ancestry (gnomAD v2.1.1, Oct 2022).

Biological Effect

The biological effect of this variant is unknown. Its location in the APOE promoter region suggests it could affect gene expression (see e.g., Maloney et al., 2007).

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References

Paper Citations

1. Yee A, Tsui NB, Kwan RY, Leung AY, Lai CK, Chung T, Lau JY, Fok M, Dai DL, Lau LT. Apolipoprotein E Gene Revisited: Contribution of Rare Variants to Alzheimer's Disease Susceptibility in Southern Chinese. Curr Alzheimer Res. 2021 Mar 24; PubMed.
2. Maloney B, Ge YW, Alley GM, Lahiri DK. Important differences between human and mouse APOE gene promoters: limitation of mouse APOE model in studying Alzheimer's disease. J Neurochem. 2007 Nov;103(3):1237-57. PubMed.

Further Reading

No Available Further Reading